2025
Vincke L, Van Schil K, Ahmadieh H, Moghaddasi A, Sabbaghi H, Daftarian N, Motevasseli T, Javanparast Sheykhani L, Dehghani M, Vahidi Mehrjardi MY, De Zaeytijd J, De Bruyne M, Mahieu Q, Al-Hajj E, Del Pozo-Valero M, Rosseel T, Van Heetvelde M, Maroofian R, Suri F, Bauwens M, De Baere E. Uncovering the genetic architecture of inherited retinal disease in a consanguineous Iranian cohort. NPJ Genom Med. 2025 Mar 7;10(1):19. doi: 10.1038/s41525-025-00473-9. PMID: 40055385.
Corral-Serrano JC, Vaclavik V, Van de Sompele S, Kaminska K, Jovanovic K, Escher P, Van den Broeck F, Cancellieri F, Toulis V, Leroy BP, de Zaeytijd J, You Z, Ottaviani D, Quinodoz M, Bordeanu G, Hardcastle AJ, Coppieters F, Tran VH, Cheetham ME, Rivolta C, De Baere E. A novel recurrent ARL3 variant c.209G > A p.(Gly70Glu) causes variable non-syndromic dominant retinal dystrophy with defective lipidated protein transport in human retinal stem cell models. Hum Mol Genet. 2025 Mar 3. doi: 10.1093/hmg/ddaf029. PMID: 40037334.
Abramowicz S, Meunier A, Draganova D, Caspers L, De Bruyne M, Van de Sompele S, De Baere E, Leroy BP, Postelmans L, Willermain F. Inherited retinal disease gene panel in posterior or panuveitis with dystrophic features. Retina. 2025 Mar 1;45(3):509-521. doi: 10.1097/IAE.0000000000004329. PMID: 39964824.
Pantiru AD, Van de Sompele S, Ligneul C, Chatelain C, Barrea C, Lerch JP, Filippi BM, Alkan S, De Baere E, Johnston J, Clapcote SJ. Autistic behavior is a common outcome of biallelic disruption of PDZD8 in humans and mice. Mol Autism. 2025 Feb 27;16(1):14. doi: 10.1186/s13229-025-00650-8. PMID: 40016860.
Moekotte L, de Boer JH, Hiddingh S, de Ligt A, Nguyen XTA, Hoyng CB, Inglehearn CF, McKibbin M, Lamey TM, Thompson JA, Chen FK, Lamey TL, AlTalbishi A, Panneman DM, Boonen EGM, Banfi S, Bocquet B, Meunier I, De Baere E, Koenekoop R, Oldak M, Rivolta C, van den Born LI, den Hollander AI, Cremers FPM, Bax NM, van Genderen MM, Klevering BJ, Boon CJF, van der Lelij A, van Hagen PM, Kuiper JJ. Elevated plasma complement factors in CRB1-associated inherited retinal dystrophies. Invest Ophthalmol Vis Sci. 2025 Feb 3;66(2):55. doi: 10.1167/iovs.66.2.55. PMID: 39982393.
Quinodoz M, Rodenburg K, Cvackova Z, Kaminska K, de Bruijn SE, Iglesias-Romero AB, Boonen EGM, Ullah M, Zomer N, Folcher M, Bijon J, Holtes LK, Tsang SH, Corradi Z, Freund KB, Shliaga S, Panneman DM, Hitti-Malin RJ, Ali M, AlTalbishi Aa, Andreasson S, Ansari G, Arno G, Astuti GDN, Ayuso C, Ayyagari R, Banfi S, Banin E, Barboni MTS, Bauwens M, Ben-Yosef T, Birch DG, Biswas P, Blanco-Kelly F, Bocquet B, Boon CJF, Branham K, Britten-Jones AC, Bujakowska KM, Cadena EL, Calzetti G, Cancellieri F, Cattaneo L, Charbel Issa P, Chadderton N, Coutinho-Santos L, Daiger SP, De Baere E, de la Cerda B, De Roach JN, De Zaeytijd J, Derks R, Dhaenens C-M, Dudakova L, Duncan JL, Farrar GJ, Feltgen N, Fernandez-Caballero L, Ferraz Sallum JM, Gana S, Garanto A, Gardner JC, Gilissen C, Goto K, Gonzalez-Duarte R, Griffiths-Jones S, Haack TB, Haer-Wigman L, Hardcastle AJ, Hayashi T, Heon E, Hoischen A, Holtan JP, Hoyng CB, Ibanez IV MBB, Inglehearn CF, Iwata T, Jones K, Kalatzis V, Kamakari S, Karali M, Kellner U, Knezy K, Klaver CCW, Koenekoop RK, Kohl S, Kominami T, Kuhlewein L, Lamey TM, Leroy BP, Martin-Gutierrez MP, Martins N, Mauring L, Leibu R, Lin S, Liskova P, Lopez I, Lopez-Rodriguez VR de J, Mahroo OA, Manes G, McKibbin M, McLaren TL, Meunier I, Michaelides M, Millan JM, Mizobuchi K, Mukherjee R, Nagy ZZ, Neveling K, O?dak M, Oorsprong M, Pan Y, Papachristou A, Percesepe A, Pfau M, Pierce EA, Place E, Ramesar R, Rasquin FA, Rice GI, Roberts L, Rodriguez-Hidalgo M, Ruiz-Eddera J, Sabir AH, Sajiki AF, Sanchez-Barbero AI, Sarma AS, Sangermano R, Santos CM, Scarpato M, Scholl HPN, Sharon D, Signorini SG, Simonelli F, Sousa AB, Stefaniotou M, Stingl K, Suga A, Sullivan LS, Szabo V, Szaflik JP, Taurina G, Toomes C, Tran VH, Tsilimbaris MK, Tsoka P, Vaclavik V, Vajter M, Valeina S, Valente EM, Valentine C, Valero R, van Aerschot J, van den Born LI, Webster AR, Whelan L, Wissinger B, Yioti GG, Yoshitake K, Zenteno JC, Zeuli R, Zuleger T, Landau C, Jacob AI, Cremers FPM, Lee W, Ellingford JM, Stanek D, Rivolta C, Roosing S. De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa. medRxiv. 2025 Jan 6. doi: 10.1101/2025.01.06.24317169v1. PMID: 39830270.
Corral-Serrano JC, Vaclavik V, Van de Sompele S, Kaminska K, Jovanovic K, Escher P, Van den Broeck F, Cancellieri F, Toulis V, Leroy BP, de Zaeytijd J, You Z, Ottaviani D, Quinodoz M, Bordeanu G, Hardcastle AJ, Coppieters F, Tran VH, Cheetham ME, Rivolta C, De Baere E. A novel recurrent ARL3 variant c.209G > A p.(Gly70Glu) causes variable non-syndromic dominant retinal dystrophy with defective lipidated protein transport in human retinal stem cell models. Hum Mol Genet. 2025 Mar 3. doi: 10.1093/hmg/ddaf029. PMID: 40037334.
Abramowicz S, Meunier A, Draganova D, Caspers L, De Bruyne M, Van de Sompele S, De Baere E, Leroy BP, Postelmans L, Willermain F. Inherited retinal disease gene panel in posterior or panuveitis with dystrophic features. Retina. 2025 Mar 1;45(3):509-521. doi: 10.1097/IAE.0000000000004329. PMID: 39964824.
Pantiru AD, Van de Sompele S, Ligneul C, Chatelain C, Barrea C, Lerch JP, Filippi BM, Alkan S, De Baere E, Johnston J, Clapcote SJ. Autistic behavior is a common outcome of biallelic disruption of PDZD8 in humans and mice. Mol Autism. 2025 Feb 27;16(1):14. doi: 10.1186/s13229-025-00650-8. PMID: 40016860.
Moekotte L, de Boer JH, Hiddingh S, de Ligt A, Nguyen XTA, Hoyng CB, Inglehearn CF, McKibbin M, Lamey TM, Thompson JA, Chen FK, Lamey TL, AlTalbishi A, Panneman DM, Boonen EGM, Banfi S, Bocquet B, Meunier I, De Baere E, Koenekoop R, Oldak M, Rivolta C, van den Born LI, den Hollander AI, Cremers FPM, Bax NM, van Genderen MM, Klevering BJ, Boon CJF, van der Lelij A, van Hagen PM, Kuiper JJ. Elevated plasma complement factors in CRB1-associated inherited retinal dystrophies. Invest Ophthalmol Vis Sci. 2025 Feb 3;66(2):55. doi: 10.1167/iovs.66.2.55. PMID: 39982393.
Quinodoz M, Rodenburg K, Cvackova Z, Kaminska K, de Bruijn SE, Iglesias-Romero AB, Boonen EGM, Ullah M, Zomer N, Folcher M, Bijon J, Holtes LK, Tsang SH, Corradi Z, Freund KB, Shliaga S, Panneman DM, Hitti-Malin RJ, Ali M, AlTalbishi Aa, Andreasson S, Ansari G, Arno G, Astuti GDN, Ayuso C, Ayyagari R, Banfi S, Banin E, Barboni MTS, Bauwens M, Ben-Yosef T, Birch DG, Biswas P, Blanco-Kelly F, Bocquet B, Boon CJF, Branham K, Britten-Jones AC, Bujakowska KM, Cadena EL, Calzetti G, Cancellieri F, Cattaneo L, Charbel Issa P, Chadderton N, Coutinho-Santos L, Daiger SP, De Baere E, de la Cerda B, De Roach JN, De Zaeytijd J, Derks R, Dhaenens C-M, Dudakova L, Duncan JL, Farrar GJ, Feltgen N, Fernandez-Caballero L, Ferraz Sallum JM, Gana S, Garanto A, Gardner JC, Gilissen C, Goto K, Gonzalez-Duarte R, Griffiths-Jones S, Haack TB, Haer-Wigman L, Hardcastle AJ, Hayashi T, Heon E, Hoischen A, Holtan JP, Hoyng CB, Ibanez IV MBB, Inglehearn CF, Iwata T, Jones K, Kalatzis V, Kamakari S, Karali M, Kellner U, Knezy K, Klaver CCW, Koenekoop RK, Kohl S, Kominami T, Kuhlewein L, Lamey TM, Leroy BP, Martin-Gutierrez MP, Martins N, Mauring L, Leibu R, Lin S, Liskova P, Lopez I, Lopez-Rodriguez VR de J, Mahroo OA, Manes G, McKibbin M, McLaren TL, Meunier I, Michaelides M, Millan JM, Mizobuchi K, Mukherjee R, Nagy ZZ, Neveling K, O?dak M, Oorsprong M, Pan Y, Papachristou A, Percesepe A, Pfau M, Pierce EA, Place E, Ramesar R, Rasquin FA, Rice GI, Roberts L, Rodriguez-Hidalgo M, Ruiz-Eddera J, Sabir AH, Sajiki AF, Sanchez-Barbero AI, Sarma AS, Sangermano R, Santos CM, Scarpato M, Scholl HPN, Sharon D, Signorini SG, Simonelli F, Sousa AB, Stefaniotou M, Stingl K, Suga A, Sullivan LS, Szabo V, Szaflik JP, Taurina G, Toomes C, Tran VH, Tsilimbaris MK, Tsoka P, Vaclavik V, Vajter M, Valeina S, Valente EM, Valentine C, Valero R, van Aerschot J, van den Born LI, Webster AR, Whelan L, Wissinger B, Yioti GG, Yoshitake K, Zenteno JC, Zeuli R, Zuleger T, Landau C, Jacob AI, Cremers FPM, Lee W, Ellingford JM, Stanek D, Rivolta C, Roosing S. De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa. medRxiv. 2025 Jan 6. doi: 10.1101/2025.01.06.24317169v1. PMID: 39830270.
2024
Ceroni F, Cicekdal MB, Holt R, Sorokina E, Chassaing N, Clokie S, Naert T, Talbot LV, Muheisen S, Bax DA, Kesim Y, Kivuva EC, Vincent-Delorme C, Lienkamp SS, Plaisancié J, De Baere E, Calvas P, Vleminckx K, Semina EV, Ragge NK. Deletion upstream of MAB21L2 highlights the importance of evolutionarily conserved non-coding sequences for eye development. Nat Commun. 2024 Oct 26;15(1):9245. doi: 10.1038/s41467-024-53553-2. PMID: 39455595.
Segers A, Gilis J, Van Heetvelde M, Risso D, De Baere E, Clement L. saseR: Juggling offsets unlocks RNA-seq tools for fast and Scalable differential usage, Aberrant Splicing and Expression Retrieval. bioRxiv. 2024 Oct 16:2023.06.29.547014. doi: 10.1101/2023.06.29.547014. PMID: 39464066.
de Muijnck C, Haer-Wigman L, van Everdingen JAM, Lushchyk T, Heutinck PAT, van Dooren MF, Kievit AJA, Verhoeven VJM, Simon MEH, Wasmann RA, Notting IC, De Baere E, Walraedt S, De Zaeytijd J, Van den Broeck F, Leroy BP, Boon CJF, van Genderen MM. Characteristics of autosomal dominant WFS1-associated optic neuropathy and its comparability to OPA1-associated autosomal dominant optic atrophy. Sci Rep. 2024 Oct 3;14(1):22956. doi: 10.1038/s41598-024-74364-x. PMID: 39363032.
Syryn H, Van de Velde J, De Clercq G, Verdin H, Dheedene A, Peelman F, Sinclair A, Ayers KL, Bathgate RAD, Cools M, De Baere E. Biallelic RXFP2 variants lead to congenital bilateral cryptorchidism and male infertility, supporting a role of RXFP2 in spermatogenesis. Hum Reprod. 2024 Oct 1;39(10):2353-2363. doi: 10.1093/humrep/deae195. PMID: 39222519.
Riepe TV, Stemerdink M, Salz R, Rey AD, de Bruijn SE, Boonen E, Tomkiewicz TZ, Kwint M, Gloerich J, Wessels HJCT, Delanote E, De Baere E, van Nieuwerburgh F, De Keulenaer S, Ferrari B, Ferrari S, Coppieters F, Cremers FPM, van Wyk E, Roosing S, de Vrieze E, 't Hoen PAC. A proteogenomic atlas of the human neural retina. Front Genet. 2024 Sep 19;15:1451024. doi: 10.3389/fgene.2024.1451024. eCollection 2024. PMID: 39371417.
Abramowicz S, Meunier A, Postelmans L, Caspers L, Corazza F, De Bruyne M, Van de Sompele S, De Baere E, Leroy BP, Willermain F, Draganova D. Diagnostic yield of an inherited retinal disease gene panel in retinopathy of unknown origin. Retina. 2024 Sep 1;44(9):1597-1607. doi: 10.1097/IAE.0000000000004155. PMID: 39167581.
Bauwens M, De Man V, Audo I, Balikova I, Zein WM, Smirnov V, Held S, Vermeer S, Loos E, Jacob J, Casteels I, Désir J, Depasse F, Van de Sompele S, Van Heetvelde M, De Bruyne M, Andrieu C, Condroyer C, Antonio A, Hufnagel R, Luísa Carvalho A, Pedro Marques J, Zeitz C, De Baere E, Damme M. Expanding the genetic landscape of Usher syndrome type IV caused by pathogenic ARSG variants. Clin Gen. 2024 Aug 28. doi: 10.1111/cge.14614. PMID: 39199020.
Brachet C, Laemmle A, Cools M, Sauter KS, De Baere E, Vanlander A, Pandey AV, du Toit T, Voegel CD, Heinrichs C, Verdin H, Flück CE. Insight into the role of TXNRD2 in steroidogenesis through a novel homozygous TXNRD2 splice variant. Eur J Endocrinol. 2024 Aug 5;191(2):144-155. doi: 10.1093/ejendo/lvae090. PMID: 39097530.
Igelman AD, White E, Tayyib A, Everett L, Vincent A, Heon E, Zeitz C, Michaelides M, Mahroo OA, Katta M, Webster A, Preising M, Lorenz B, Khateb S, Banin E, Sharon D, Luski S, Van Den Broeck F, Leroy BP, De Baere E, Walraedt S, Stingl K, Kuehlewein L, Kohl S, Reith M, Fulton A, Raghuram A, Meunier I, Dollfus H, Aleman TS, Bedoukian EC, O'Neil EC, Krauss E, Vincent A, Jordan C, Iannaccone A, Sen P, Sundaramurthy S, Nagasamy S, Balikova I, Casteels I, Borooah S, Yassin S, Nagiel A, Schwartz H, Zanlonghi X, Gottlob I, McLean RJ, Munier FL, Stephenson A, Sisk R, Koenekoop R, Wilson LB, Fredrick D, Choi D, Yang P, Pennesi ME. Characterising the refractive error in paediatric patients with congenital stationary night blindness: a multicentre study. Br J Ophthalmol. 2024 Jul 30:bjo-2023-323747. doi: 10.1136/bjo-2023-323747. PMID: 39079892.
Calzetti G, Schwarzwälder K, Ottonelli G, Kaminska K, Strauss RW, Baere E, Leroy BP, Audo I, Zeitz C, Cursiefen C, Stingl K, Boon CJF, Marques JP, Santos C, Ayuso Garcia C, Escher P, Cordeiro MF, D'Esposito F, Charbel Issa P, Lotery A, Lin S, Michaelides M, Rivolta C, Scholl HPN. Genetic Testing of Patients with Inherited Retinal Diseases in the European Countries: An International Survey by the European Vision Institute. Ophthalmic Res. 2024 Jul 30;67(1):448-457. doi: 10.1159/000540607. PMID: 39079514.
Osaer M, Terryn W, De Baere E, De Vriendt C, Haerynck F, Kerre T, Kreps EO. Intermediate uveitis in common variable immunodefiency (CVID) associated with a heterozygous variant in the TNFRSF13B gene. Retin Cases Brief Rep. 2024 Jul 19. doi: 10.1097/ICB.0000000000001632. Online ahead of print. PMID: 39029109.
D'haene E, López-Soriano V, Martínez-García PM, Kalayanamontri S, Rey AD, Sousa-Ortega A, Naranjo S, Van de Sompele S, Vantomme L, Mahieu Q, Vergult S, Neto A, Gómez-Skarmeta JL, Martínez-Morales JR, Bauwens M, Tena JJ, De Baere E. Comparative 3D genome analysis between neural retina and retinal pigment epithelium reveals differential cis-regulatory interactions at retinal disease loci. Genome Biol. 2024 May 17;25(1):123. doi: 10.1186/s13059-024-03250-6. PMID: 38760655.
Hitti-Malin RJ, Panneman DM, Corradi Z, Boonen EGM, Astuti G, Dhaenens CM, Stöhr H, Weber BHF, Sharon D, Banin E, Karali M, Banfi S, Ben-Yosef T, Glavač D, Farrar GJ, Ayuso C, Liskova P, Dudakova L, Vajter M, Ołdak M, Szaflik JP, Matynia A, Gorin MB, Kämpjärvi K, Bauwens M, De Baere E, Hoyng CB, Li CHZ, Klaver CCW, Inglehearn CF, Fujinami K, Rivolta C, Allikmets R, Zernant J, Lee W, Podhajcer OL, Fakin A, Sajovic J, AlTalbishi A, Valeina S, Taurina G, Vincent AL, Roberts L, Ramesar R, Sartor G, Luppi E, Downes SM, van den Born LI, McLaren TL, De Roach JN, Lamey TM, Thompson JA, Chen FK, Tracewska AM, Kamakari S, Sallum JMF, Bolz HJ, Kayserili H, Roosing S, Cremers FPM. Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes. Biomolecules. 2024 Mar 19;14(3):367. doi: 10.3390/biom14030367. PMID: 38540785.
Carron M, Sachslehner AP, Cicekdal MB, Bruggeman I, Demuynck S, Golabi B, De Baere E, Declercq W, Tschachler E, Vleminckx K, Eckhart L. Evolutionary origin of Hoxc13-dependent skin appendages in amphibians. Nat Commun. 2024 Mar 18;15(1):2328. doi: 10.1038/s41467-024-46373-x. PMID: 38499530.
Del Pozo Valero M, Almoallem B, Dueñas Rey A, Mahieu Q, Van Heetvelde M, Jeddawi L, Bauwens M, De Baere E. Autozygome-guided exome-first study in a consanguineous cohort with early-onset retinal disease uncovers an isolated RIMS2 phenotype and a retina-enriched RIMS2 isoform. Clin Genet. 2024 Mar 11. doi: 10.1111/cge.14517. PMID: 38468396.
Suárez-Herrera N, Riswick IB, Vázquez-Domínguez I, Duijkers L, Karjosukarso DW, Piccolo D, Bauwens M, De Baere E, Cheetham ME, Garanto A, Collin RWJ. Proof-of-concept for multiple AON delivery by a single U7snRNA vector to restore splicing defects in ABCA4. Mol Ther. 2024 Jan 18:S1525-0016(24)00019-4. doi: 10.1016/j.ymthe.2024.01.019. PMID: 38243599.
López Soriano V, Dueñas Rey A, Mukherjee R, Genomics England Research Consortium, Coppieters F, Bauwens M, Willaert A, De Baere E. Multi-omics analysis in human retina uncovers ultraconserved cis-regulatory elements at rare eye disease loci. Nat Commun. 2024 Feb 21;15(1):1600. doi: 10.1038/s41467-024-45381-1. PMID: 38383453.
Bauwens M, Celik E, Zur D, Lin S, Quinodoz M, Michaelides M, Webster AR, Van Den Broeck F, Leroy BP, Rizel L, Moye AR, Meunier A, Tran HV, Moulin AP, Mahieu Q, Van Heetvelde M, Arno G, Rivolta C, De Baere E, Ben-Yosef T. Mutations in SAMD7 cause autosomal-recessive macular dystrophy with or without cone dysfunction. Am J Hum Genet. 2024 Feb 1;111(2):393-402. doi: 10.1016/j.ajhg.2024.01.001. Epub 2024 Jan 24. PMID: 38272031.
Dueñas Rey A, Del Pozo Valero M, Bouckaert M, Wood KA, Van den Broeck F, Varela MD, Thomas HB, Van Heetvelde M, De Bruyne M, Van de Sompele S, Bauwens M, Lenaerts H, Mahieu Q, Josifova D; Genomics England Research Consortium; Rivolta C, O'Keefe RT, Ellingford J, Webster AR, Arno G, Ayuso G, De Zaeytijd J, Leroy BP, De Baere E, Coppieters F. Combining a prioritization strategy and functional studies nominates 5’UTR variants underlying inherited retinal disease. Genome Medicine. 2024 Jan 6;16(1):7. doi: 10.1186/s13073-023-01277-1. PMID: 38184646.
Cools M, Grijp C, Neirinck J, J Tavernier SJ, Schelstraete P, Van De Velde J, Morbée8 L, De Baere E, Bonroy C, van Bever Y, Bruggenwirth H, Vermont C, Hannema SE, De Rijke Y, Abdulhadi-Atwan M, Zangen D, Verdin H, Haerynck F. Spleen function is reduced in individuals with NR5A1 variants with or without a difference of sex development: a cross-sectional study. Eur J Endocrinol. 2024 Jan 3;190(1):34-43. doi: 10.1093/ejendo/lvad174. PMID: 38128121.
Segers A, Gilis J, Van Heetvelde M, Risso D, De Baere E, Clement L. saseR: Juggling offsets unlocks RNA-seq tools for fast and Scalable differential usage, Aberrant Splicing and Expression Retrieval. bioRxiv. 2024 Oct 16:2023.06.29.547014. doi: 10.1101/2023.06.29.547014. PMID: 39464066.
de Muijnck C, Haer-Wigman L, van Everdingen JAM, Lushchyk T, Heutinck PAT, van Dooren MF, Kievit AJA, Verhoeven VJM, Simon MEH, Wasmann RA, Notting IC, De Baere E, Walraedt S, De Zaeytijd J, Van den Broeck F, Leroy BP, Boon CJF, van Genderen MM. Characteristics of autosomal dominant WFS1-associated optic neuropathy and its comparability to OPA1-associated autosomal dominant optic atrophy. Sci Rep. 2024 Oct 3;14(1):22956. doi: 10.1038/s41598-024-74364-x. PMID: 39363032.
Syryn H, Van de Velde J, De Clercq G, Verdin H, Dheedene A, Peelman F, Sinclair A, Ayers KL, Bathgate RAD, Cools M, De Baere E. Biallelic RXFP2 variants lead to congenital bilateral cryptorchidism and male infertility, supporting a role of RXFP2 in spermatogenesis. Hum Reprod. 2024 Oct 1;39(10):2353-2363. doi: 10.1093/humrep/deae195. PMID: 39222519.
Riepe TV, Stemerdink M, Salz R, Rey AD, de Bruijn SE, Boonen E, Tomkiewicz TZ, Kwint M, Gloerich J, Wessels HJCT, Delanote E, De Baere E, van Nieuwerburgh F, De Keulenaer S, Ferrari B, Ferrari S, Coppieters F, Cremers FPM, van Wyk E, Roosing S, de Vrieze E, 't Hoen PAC. A proteogenomic atlas of the human neural retina. Front Genet. 2024 Sep 19;15:1451024. doi: 10.3389/fgene.2024.1451024. eCollection 2024. PMID: 39371417.
Abramowicz S, Meunier A, Postelmans L, Caspers L, Corazza F, De Bruyne M, Van de Sompele S, De Baere E, Leroy BP, Willermain F, Draganova D. Diagnostic yield of an inherited retinal disease gene panel in retinopathy of unknown origin. Retina. 2024 Sep 1;44(9):1597-1607. doi: 10.1097/IAE.0000000000004155. PMID: 39167581.
Bauwens M, De Man V, Audo I, Balikova I, Zein WM, Smirnov V, Held S, Vermeer S, Loos E, Jacob J, Casteels I, Désir J, Depasse F, Van de Sompele S, Van Heetvelde M, De Bruyne M, Andrieu C, Condroyer C, Antonio A, Hufnagel R, Luísa Carvalho A, Pedro Marques J, Zeitz C, De Baere E, Damme M. Expanding the genetic landscape of Usher syndrome type IV caused by pathogenic ARSG variants. Clin Gen. 2024 Aug 28. doi: 10.1111/cge.14614. PMID: 39199020.
Brachet C, Laemmle A, Cools M, Sauter KS, De Baere E, Vanlander A, Pandey AV, du Toit T, Voegel CD, Heinrichs C, Verdin H, Flück CE. Insight into the role of TXNRD2 in steroidogenesis through a novel homozygous TXNRD2 splice variant. Eur J Endocrinol. 2024 Aug 5;191(2):144-155. doi: 10.1093/ejendo/lvae090. PMID: 39097530.
Igelman AD, White E, Tayyib A, Everett L, Vincent A, Heon E, Zeitz C, Michaelides M, Mahroo OA, Katta M, Webster A, Preising M, Lorenz B, Khateb S, Banin E, Sharon D, Luski S, Van Den Broeck F, Leroy BP, De Baere E, Walraedt S, Stingl K, Kuehlewein L, Kohl S, Reith M, Fulton A, Raghuram A, Meunier I, Dollfus H, Aleman TS, Bedoukian EC, O'Neil EC, Krauss E, Vincent A, Jordan C, Iannaccone A, Sen P, Sundaramurthy S, Nagasamy S, Balikova I, Casteels I, Borooah S, Yassin S, Nagiel A, Schwartz H, Zanlonghi X, Gottlob I, McLean RJ, Munier FL, Stephenson A, Sisk R, Koenekoop R, Wilson LB, Fredrick D, Choi D, Yang P, Pennesi ME. Characterising the refractive error in paediatric patients with congenital stationary night blindness: a multicentre study. Br J Ophthalmol. 2024 Jul 30:bjo-2023-323747. doi: 10.1136/bjo-2023-323747. PMID: 39079892.
Calzetti G, Schwarzwälder K, Ottonelli G, Kaminska K, Strauss RW, Baere E, Leroy BP, Audo I, Zeitz C, Cursiefen C, Stingl K, Boon CJF, Marques JP, Santos C, Ayuso Garcia C, Escher P, Cordeiro MF, D'Esposito F, Charbel Issa P, Lotery A, Lin S, Michaelides M, Rivolta C, Scholl HPN. Genetic Testing of Patients with Inherited Retinal Diseases in the European Countries: An International Survey by the European Vision Institute. Ophthalmic Res. 2024 Jul 30;67(1):448-457. doi: 10.1159/000540607. PMID: 39079514.
Osaer M, Terryn W, De Baere E, De Vriendt C, Haerynck F, Kerre T, Kreps EO. Intermediate uveitis in common variable immunodefiency (CVID) associated with a heterozygous variant in the TNFRSF13B gene. Retin Cases Brief Rep. 2024 Jul 19. doi: 10.1097/ICB.0000000000001632. Online ahead of print. PMID: 39029109.
D'haene E, López-Soriano V, Martínez-García PM, Kalayanamontri S, Rey AD, Sousa-Ortega A, Naranjo S, Van de Sompele S, Vantomme L, Mahieu Q, Vergult S, Neto A, Gómez-Skarmeta JL, Martínez-Morales JR, Bauwens M, Tena JJ, De Baere E. Comparative 3D genome analysis between neural retina and retinal pigment epithelium reveals differential cis-regulatory interactions at retinal disease loci. Genome Biol. 2024 May 17;25(1):123. doi: 10.1186/s13059-024-03250-6. PMID: 38760655.
Hitti-Malin RJ, Panneman DM, Corradi Z, Boonen EGM, Astuti G, Dhaenens CM, Stöhr H, Weber BHF, Sharon D, Banin E, Karali M, Banfi S, Ben-Yosef T, Glavač D, Farrar GJ, Ayuso C, Liskova P, Dudakova L, Vajter M, Ołdak M, Szaflik JP, Matynia A, Gorin MB, Kämpjärvi K, Bauwens M, De Baere E, Hoyng CB, Li CHZ, Klaver CCW, Inglehearn CF, Fujinami K, Rivolta C, Allikmets R, Zernant J, Lee W, Podhajcer OL, Fakin A, Sajovic J, AlTalbishi A, Valeina S, Taurina G, Vincent AL, Roberts L, Ramesar R, Sartor G, Luppi E, Downes SM, van den Born LI, McLaren TL, De Roach JN, Lamey TM, Thompson JA, Chen FK, Tracewska AM, Kamakari S, Sallum JMF, Bolz HJ, Kayserili H, Roosing S, Cremers FPM. Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes. Biomolecules. 2024 Mar 19;14(3):367. doi: 10.3390/biom14030367. PMID: 38540785.
Carron M, Sachslehner AP, Cicekdal MB, Bruggeman I, Demuynck S, Golabi B, De Baere E, Declercq W, Tschachler E, Vleminckx K, Eckhart L. Evolutionary origin of Hoxc13-dependent skin appendages in amphibians. Nat Commun. 2024 Mar 18;15(1):2328. doi: 10.1038/s41467-024-46373-x. PMID: 38499530.
Del Pozo Valero M, Almoallem B, Dueñas Rey A, Mahieu Q, Van Heetvelde M, Jeddawi L, Bauwens M, De Baere E. Autozygome-guided exome-first study in a consanguineous cohort with early-onset retinal disease uncovers an isolated RIMS2 phenotype and a retina-enriched RIMS2 isoform. Clin Genet. 2024 Mar 11. doi: 10.1111/cge.14517. PMID: 38468396.
Suárez-Herrera N, Riswick IB, Vázquez-Domínguez I, Duijkers L, Karjosukarso DW, Piccolo D, Bauwens M, De Baere E, Cheetham ME, Garanto A, Collin RWJ. Proof-of-concept for multiple AON delivery by a single U7snRNA vector to restore splicing defects in ABCA4. Mol Ther. 2024 Jan 18:S1525-0016(24)00019-4. doi: 10.1016/j.ymthe.2024.01.019. PMID: 38243599.
López Soriano V, Dueñas Rey A, Mukherjee R, Genomics England Research Consortium, Coppieters F, Bauwens M, Willaert A, De Baere E. Multi-omics analysis in human retina uncovers ultraconserved cis-regulatory elements at rare eye disease loci. Nat Commun. 2024 Feb 21;15(1):1600. doi: 10.1038/s41467-024-45381-1. PMID: 38383453.
Bauwens M, Celik E, Zur D, Lin S, Quinodoz M, Michaelides M, Webster AR, Van Den Broeck F, Leroy BP, Rizel L, Moye AR, Meunier A, Tran HV, Moulin AP, Mahieu Q, Van Heetvelde M, Arno G, Rivolta C, De Baere E, Ben-Yosef T. Mutations in SAMD7 cause autosomal-recessive macular dystrophy with or without cone dysfunction. Am J Hum Genet. 2024 Feb 1;111(2):393-402. doi: 10.1016/j.ajhg.2024.01.001. Epub 2024 Jan 24. PMID: 38272031.
Dueñas Rey A, Del Pozo Valero M, Bouckaert M, Wood KA, Van den Broeck F, Varela MD, Thomas HB, Van Heetvelde M, De Bruyne M, Van de Sompele S, Bauwens M, Lenaerts H, Mahieu Q, Josifova D; Genomics England Research Consortium; Rivolta C, O'Keefe RT, Ellingford J, Webster AR, Arno G, Ayuso G, De Zaeytijd J, Leroy BP, De Baere E, Coppieters F. Combining a prioritization strategy and functional studies nominates 5’UTR variants underlying inherited retinal disease. Genome Medicine. 2024 Jan 6;16(1):7. doi: 10.1186/s13073-023-01277-1. PMID: 38184646.
Cools M, Grijp C, Neirinck J, J Tavernier SJ, Schelstraete P, Van De Velde J, Morbée8 L, De Baere E, Bonroy C, van Bever Y, Bruggenwirth H, Vermont C, Hannema SE, De Rijke Y, Abdulhadi-Atwan M, Zangen D, Verdin H, Haerynck F. Spleen function is reduced in individuals with NR5A1 variants with or without a difference of sex development: a cross-sectional study. Eur J Endocrinol. 2024 Jan 3;190(1):34-43. doi: 10.1093/ejendo/lvad174. PMID: 38128121.
2023
Chan HW, Van den Broeck F, Cools A, Walraedt S, Joniau I, Verdin H, Balikova I, Van Nuffel S, Delbeke P, De Baere E, Leroy BP, Nerinckx F. Pediatric cataract surgery with 27G vitrectomy instrumentation: the Ghent University Hospital experience. Front Med (Lausanne). 2023 Aug 3;10:1197984. doi: 10.3389/fmed.2023.1197984. eCollection 2023. PMID: 37601772.
Beyens A, Lietaer C, Claes K, De Baere E, Goeteyn M, Lerut B, Syryn H, Vanakker O, Van der Meulen J, Vanwalleghem L, Callewaert B. HRAS-related epidermal nervus syndromes: Expansion of the spectrum with first brachial arch defects. Clin Genet. 2023 Jun;103(6):709-713. doi: 10.1111/cge.14323. Epub 2023 Mar 10. PMID: 36896710.
Vockley J, Brunetti-Pierri N , Chung WK, Clarke AJ , Gold N, Green RC, Kagan S, Moroz T, Schaaf CP, Schulz M, De Baere E. Response to Beretich and Beretich. Genet Med. 2023 Oct;25(10):100903. doi: 10.1016/j.gim.2023.100903. Epub 2023 May 25. PMID: 37245089.
Vockley J, Brunetti-Pierri N, Chung WK, Clarke AJ, Gold N, Green RC, Kagan S, Moroz T, Schaaf CP, Schulz M, De Baere E. The evolving role of medical genetics in the era of gene therapy: An urgency to prepare. Genet Med. 2023 Apr;25(4):100022. doi: 10.1016/j.gim.2023.100022. Epub 2023 Jan 19. PMID: 36681872.
Nuzhat N, Van Schil K, Liakopoulos S, Bauwens M, Dueñas Rey A, Käseberg S, Jäger M, Willer JR, Winter J, Truong HM, Gruartmoner N, Van Heetvelde M, Wolf J, Merget R, Grasshoff-Derr S , Van Dorpe J, Hoorens A, Stöhr H, Mansard L, Roux AF , Langmann T, Dannhausen K , Rosenkranz D, Wissing KM, Van Lint M, Rossmann H, Häuser F , Nürnberg P, Thiele H, Zechner U, Pearring JN , De Baere E, Bolz HJ. CEP162 deficiency causes human retinal degeneration and reveals a dual role in ciliogenesis and neurogenesis. J Clin Invest. 2023 Apr 17;133(8):e161156. doi: 10.1172/JCI161156. PMID: 36862503.
Panneman DM, Hitti-Malin RJ, Holtes LK, de Bruijn SE, Reurink J, Boonen EGM, Khan MI, Ali M, Andréasson S, De Baere E, Banfi S, Bauwens M, Ben-Yosef T, Bocquet B, De Bruyne M, de la Cerda B, Coppieters F, Farinelli P, Guignard T, Inglehearn CF, Karali M, Kjellström U, Koenekoop R, de Koning B, Leroy BP, McKibbin M, Meunier I, Nikopoulos K, Nishiguchi KM, Poulter JA, Rivolta C, Rodríguez de la Rúa E, Saunders P, Simonelli F, Tatour Y, Testa F, Thiadens AAHJ, Toomes C, Tracewska AM, Tran HV, Ushida H, Vaclavik V, Verhoeven VJM, van de Vorst M, Gilissen C, Hoischen A, Cremers FPM, Roosing S. Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis. Front Cell Dev Biol. 2023 Feb 3;11:1112270. doi: 10.3389/fcell.2023.1112270. eCollection 2023. PMID: 36819107.
Potorac I, Laterre M, Malaise O, Nechifor V, Fasquelle C, Colleye O, Detrembleur N, Verdin H, Symoens S, De Baere E, Daly AF, Bours V, Pétrossians P, Pintiaux A. The role of MCM9 in the Etiology of Sertoli Cell-Only Syndrome and Premature Ovarian Insufficiency. J Clin Med. 2023 Jan 28;12(3):990. doi: 10.3390/jcm12030990. PMID: 36769638.
Small KW, Van de Sompele S, Avetisjan J, Udar N, Agemy S, De Baere E, Shaya FS. New noncoding base pair mutation at the identical locus as the original NCMD/MCDR1 in a mexican family, suggesting a mutational hotspot. J Vitreoretin Dis. 2023 Jan 2;7(1):33-42. doi: 10.1177/24741264221129432. eCollection 2023 Jan-Feb. PMID: 37008391.
Beyens A, Lietaer C, Claes K, De Baere E, Goeteyn M, Lerut B, Syryn H, Vanakker O, Van der Meulen J, Vanwalleghem L, Callewaert B. HRAS-related epidermal nervus syndromes: Expansion of the spectrum with first brachial arch defects. Clin Genet. 2023 Jun;103(6):709-713. doi: 10.1111/cge.14323. Epub 2023 Mar 10. PMID: 36896710.
Vockley J, Brunetti-Pierri N , Chung WK, Clarke AJ , Gold N, Green RC, Kagan S, Moroz T, Schaaf CP, Schulz M, De Baere E. Response to Beretich and Beretich. Genet Med. 2023 Oct;25(10):100903. doi: 10.1016/j.gim.2023.100903. Epub 2023 May 25. PMID: 37245089.
Vockley J, Brunetti-Pierri N, Chung WK, Clarke AJ, Gold N, Green RC, Kagan S, Moroz T, Schaaf CP, Schulz M, De Baere E. The evolving role of medical genetics in the era of gene therapy: An urgency to prepare. Genet Med. 2023 Apr;25(4):100022. doi: 10.1016/j.gim.2023.100022. Epub 2023 Jan 19. PMID: 36681872.
Nuzhat N, Van Schil K, Liakopoulos S, Bauwens M, Dueñas Rey A, Käseberg S, Jäger M, Willer JR, Winter J, Truong HM, Gruartmoner N, Van Heetvelde M, Wolf J, Merget R, Grasshoff-Derr S , Van Dorpe J, Hoorens A, Stöhr H, Mansard L, Roux AF , Langmann T, Dannhausen K , Rosenkranz D, Wissing KM, Van Lint M, Rossmann H, Häuser F , Nürnberg P, Thiele H, Zechner U, Pearring JN , De Baere E, Bolz HJ. CEP162 deficiency causes human retinal degeneration and reveals a dual role in ciliogenesis and neurogenesis. J Clin Invest. 2023 Apr 17;133(8):e161156. doi: 10.1172/JCI161156. PMID: 36862503.
Panneman DM, Hitti-Malin RJ, Holtes LK, de Bruijn SE, Reurink J, Boonen EGM, Khan MI, Ali M, Andréasson S, De Baere E, Banfi S, Bauwens M, Ben-Yosef T, Bocquet B, De Bruyne M, de la Cerda B, Coppieters F, Farinelli P, Guignard T, Inglehearn CF, Karali M, Kjellström U, Koenekoop R, de Koning B, Leroy BP, McKibbin M, Meunier I, Nikopoulos K, Nishiguchi KM, Poulter JA, Rivolta C, Rodríguez de la Rúa E, Saunders P, Simonelli F, Tatour Y, Testa F, Thiadens AAHJ, Toomes C, Tracewska AM, Tran HV, Ushida H, Vaclavik V, Verhoeven VJM, van de Vorst M, Gilissen C, Hoischen A, Cremers FPM, Roosing S. Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis. Front Cell Dev Biol. 2023 Feb 3;11:1112270. doi: 10.3389/fcell.2023.1112270. eCollection 2023. PMID: 36819107.
Potorac I, Laterre M, Malaise O, Nechifor V, Fasquelle C, Colleye O, Detrembleur N, Verdin H, Symoens S, De Baere E, Daly AF, Bours V, Pétrossians P, Pintiaux A. The role of MCM9 in the Etiology of Sertoli Cell-Only Syndrome and Premature Ovarian Insufficiency. J Clin Med. 2023 Jan 28;12(3):990. doi: 10.3390/jcm12030990. PMID: 36769638.
Small KW, Van de Sompele S, Avetisjan J, Udar N, Agemy S, De Baere E, Shaya FS. New noncoding base pair mutation at the identical locus as the original NCMD/MCDR1 in a mexican family, suggesting a mutational hotspot. J Vitreoretin Dis. 2023 Jan 2;7(1):33-42. doi: 10.1177/24741264221129432. eCollection 2023 Jan-Feb. PMID: 37008391.
2022
Papadimitriou S, Gravel B, Nachtegael C, De Baere E, Loeys B, Vikkula M, Smits G, Lenaerts T. Toward reporting standards for the pathogenicity of variant combinations involved in multilocus/oligogenic diseases. HGG Adv 2022 Dec 2;4(1):100165. doi: 10.1016/j.xhgg.2022.100165. eCollection 2023 Jan 12. PMID: 36578772.
Marziali E, Van Den Broeck F, Bargiacchi S, Fortunato P, Caputo R, Sodi A, De Zaeytijd J, Murro V, Mucciolo DP, Giorgio D, Passerini I, Palazzo V, Francesca P, De Baere E, Zeitz C, Leroy B, Secci J, Bacci GM. Optic nerve involvement in CACNA1F-related disease: observations from a multicentric case series. Ophthalmic Genet. 2022 Dec 5:1-11. doi: 10.1080/13816810.2022.2132514. PMID: 36469668.
Naesens L, Muppala S, Acharya D, Nemegeer J, Bogaert D, Lee JH, Staes K, Debacker V, De Bleser P, De Bruyne M, De Baere E, van Gent M, Liu G, Lambrecht BN, Staal J, Kerre T, Beyaert R, Maelfait J, Tavernier SJ, Gack MU, Haerynck F. GFT3A mutations predispose to herpses simplex encephalitis by disrupting biogenesis of the host-derived RIG-I ligand RNA5SP141. Sci Immunol. 2022 Nov 25;7(77):eabq4531.doi: 10.1126/sciimmunol.abq4531. Epub 2022 Nov 18. PMID: 36399538.
Persani L, Cools M, Ioakim S, Faisal Ahmed S, Andonova S, Avbelj-Stefanija M, Baronio F, Bouligand J, Bruggenwirth HT, Davies JH, De Baere E, Dzivite-Krisane I, Fernandez-Alvarez P, Gheldof A, Giavoli C, Gravholt CH, Hiort O, Holterhus PM, Juul A, Krausz C, Lagerstedt-Robinson K, McGowan R, Neumann U, Novelli A, Peyrassol X, Phylactou LA, Rohayem J, Touraine P, Westra D, Vezzoli V, Rossetti R. The genetic diagnosis of rare endocrine disorders of sex development and maturation: a survey among Endo-ERN centres. Endocr Connect. 2022 Nov 14;11(12):e220367. doi: 10.1530/EC-22-0367. Print 2022 Dec 1. PMID: 36228316.
Van de Sompele S, Small KW, Cicekdal MB, Soriano VL, D'Haene E, Shaya FS, Agemy S, Van der Snickt T, Dueñas Rey A, Rosseel T, Van Heetvelde M, Vergult S, Balikova I, Bergen AA, Boon CJF, De Zaeytijd J, Inglehearn CF, Kousal B, Leroy BP, Rivolta C, Vaclavik V, van den Ende J, van Schooneveld MJ, Gómez-Skarmeta JL, Tena JJ, Martinez-Morales JR, Liskova P, Vleminckx K, De Baere E. Multi-omics approach dissects cis-regulatory mechanisms underlying North Carolina macular dystrophy, a retinal enhanceropathy. Am J Hum Genet 2022 Nov 3;109(11):2029-2048. Epub 2022 Oct 14. doi: 10.1016/j.ajhg.2022.09.013. PMID: 36243009.
Faizi N, Casteels I , Termote B, Coucke P, De Baere E, De Bruyne M, Balikova I. High myopia and vitreal veils in a patient with Poretti- Boltshauser syndrome due to a novel homozygous LAMA1 mutation. Ophthalmic Genet. 2022 Oct;43(5):653-657. doi: 10.1080/13816810.2022.2068045. Epub 2022 May 10. PMID: 35535551.
Hahn LC, Georgiou M, Almushattat H, van Schooneveld MJ, de Carvalho ER, Wesseling NL, Ten Brink JB , Florijn RJ, Lissenberg-Witte BI , Strubbe I, van Cauwenbergh C , de Zaeytijd J , Walraedt S, De Baere E, Mukherjee R, McKibbin M, Meester-Smoor MA, Thiadens AAHJ , Al-Khuzaei S , Akyol E, Lotery AJ, van Genderen MM, Ossewaarde-van Norel J , van den Born IL , Hoyng CB, Klaver CCW , Downes SM, Bergen AA, Leroy BP, Michaelides M, Boon CJF. The Natural History of Leber Congenital Amaurosis and Cone-Rod Dystrophy Associated with Variants in the GUCY2D Gene. Ophthalmol Retina. 2022 Aug;6(8):711-722. doi: 10.1016/j.oret.2022.03.008. Epub 2022 Mar 18. PMID: 35314386.
Souche E, Beltran S, Brosens E, Belmont JW, Fossum M, Riess O, Gilissen C, Ardeshirdavani A, Houge G, van Gijn M, Clayton-Smith J, Synofzik M, de Leeuw N, Deans ZC, Dincer Y, Eck SH, van der Crabben S , Balasubramanian M, Graessner H, Sturm M, Firth H, Ferlini A , Nabbout R, De Baere E, Liehr T, Macek M, Matthijs G , Scheffer H, Bauer P, Yntema HG, Weiss MM. Recommendations for whole genome sequencing in diagnostics for rare diseases. Eur J Hum Genet. 2022 Sep;30(9):1017-1021. doi: 10.1038/s41431-022-01113-x. Epub 2022 May 16. PMID: 35577938.
Solaki M, Baumann B, Reuter P, Andreasson S, Audo I, Ayuso C, Balousha G, Benedicenti B, Birch D, Bitoun P, Blain D, Bocquet B, Branham K, Català-Mora J, De Baere E, Dollfus H, Falana M, Giorda R, Golovleva I, Gottlob I, Heckenlively JR, Jacobson SG, Jones K, Jägle H, Janecke AR, Kellner U, Liskova P, Lorenz B, Martorell-Sampol L, Messias A, Meunier I, Belga Ottoni Porto F, Papageorgiou E, Plomp AS, de Ravel TJL, Reiff CM, Renner AB, Rosenberg T, Rudolph G, Salati R, Cumhur Sener E, Sieving PA, Stanzial F, Traboulsi EI, Tsang SH, Varsanyi B, Weleber RG, Zobor D, Stingl K, Wissinger B, Kohl S. Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia. Human Mutation 2022 July; 43:7, 832-858. doi: 10.1002/humu.24371. PMID: 35332618.
Tack LJW, Spinoit AF , Hoebeke P, Riedl S, Springer A , Tonnhofer U, Hiess M, Weninger J, Mahmoud A, Tilleman K, Van Laecke E , Juul A, Albrethsen J, De Baere E, Van De Velde J, Verdin H, Cools M. Endocrine outcome and seminal parameters in young adult men born with hypospadias: A cross-sectional cohort study. EBioMedicine. 2022 Jul:81:104119. doi: 10.1016/j.ebiom.2022.104119. Epub 2022 Jun 24. PMID: 35759917.
Naesens L, Nemegeer J, Roelens F, Vallaeys L, Meuwissen M, Janssens K, Verloo P, Ogunjimi B, Hemelsoet D, Program for Undiagnosed Rare Diseases (UD-PrOZA), Hoste L , Roels L, De Bruyne M, De Baere E, Van Dorpe J, Dendooven A, Sieben A, Rice GI, Kerre T, Beyaert R, Uggenti C, Crow YJ, Tavernier SJ, Maelfait J, Haerynck F. Mutations in RNU7-1 weaken secondary RNA structure, induce MCP-1 and CXCL10 in CSF, and result in Aicardi-Goutières syndrome with severe end-organ involvement. Journal of Clinical Immunology 2022 March; Epub ahead of print. doi: 10.1007/s10875-022-01209-5. PMID: 35320431.
Cornelis S, Runhart EH, Bauwens M, Zelia Corradi, De Baere E, Roosing S, Haer-Wigman L, Dhaenens CM, Vulto-van Silfhout AT and Cremers FPM. Personalized genetic counseling for Stargardt disease: offspring risk estimates based on variant severity. American Journal of Human Genetics 2022 March; 109:3, 498-507. doi: 10.1016/j.ajhg.2022.01.008. PMID: 35120629.
Verdin H, Matton C, De Baere E. Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome. 2004 Jul 8 [updated 2022 Mar 10]. Adam MP, Everman DB, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017. Available from http://www.ncbi.nlm.nih.gov/books/NBK1441/. PMID: 20301614.
Hahn LC, van Schooneveld MJ, Wesseling NL, Florijn RJ, ten Brink BAS JB, Lissenberg-Witte BI, Strubbe I, Meester-Smoor MA, Thiadens AA, Diederen RM, van Cauwenbergh C, de Zaeytijd J, Walraedt S, De Baere E, Klaver CCW, Ossewaarde-van Norel J, van den Born LI, Hoyng CB, Boon CJF. X-Linked Retinoschisis: Novel Clinical Observations and Genetic Spectrum in 340 Patients. Ophthalmology 2022 February; 129:2, 191-202. doi: 10.1016/j.ophtha.2021.09.021. PMID: 34624300.
Marziali E, Van Den Broeck F, Bargiacchi S, Fortunato P, Caputo R, Sodi A, De Zaeytijd J, Murro V, Mucciolo DP, Giorgio D, Passerini I, Palazzo V, Francesca P, De Baere E, Zeitz C, Leroy B, Secci J, Bacci GM. Optic nerve involvement in CACNA1F-related disease: observations from a multicentric case series. Ophthalmic Genet. 2022 Dec 5:1-11. doi: 10.1080/13816810.2022.2132514. PMID: 36469668.
Naesens L, Muppala S, Acharya D, Nemegeer J, Bogaert D, Lee JH, Staes K, Debacker V, De Bleser P, De Bruyne M, De Baere E, van Gent M, Liu G, Lambrecht BN, Staal J, Kerre T, Beyaert R, Maelfait J, Tavernier SJ, Gack MU, Haerynck F. GFT3A mutations predispose to herpses simplex encephalitis by disrupting biogenesis of the host-derived RIG-I ligand RNA5SP141. Sci Immunol. 2022 Nov 25;7(77):eabq4531.doi: 10.1126/sciimmunol.abq4531. Epub 2022 Nov 18. PMID: 36399538.
Persani L, Cools M, Ioakim S, Faisal Ahmed S, Andonova S, Avbelj-Stefanija M, Baronio F, Bouligand J, Bruggenwirth HT, Davies JH, De Baere E, Dzivite-Krisane I, Fernandez-Alvarez P, Gheldof A, Giavoli C, Gravholt CH, Hiort O, Holterhus PM, Juul A, Krausz C, Lagerstedt-Robinson K, McGowan R, Neumann U, Novelli A, Peyrassol X, Phylactou LA, Rohayem J, Touraine P, Westra D, Vezzoli V, Rossetti R. The genetic diagnosis of rare endocrine disorders of sex development and maturation: a survey among Endo-ERN centres. Endocr Connect. 2022 Nov 14;11(12):e220367. doi: 10.1530/EC-22-0367. Print 2022 Dec 1. PMID: 36228316.
Van de Sompele S, Small KW, Cicekdal MB, Soriano VL, D'Haene E, Shaya FS, Agemy S, Van der Snickt T, Dueñas Rey A, Rosseel T, Van Heetvelde M, Vergult S, Balikova I, Bergen AA, Boon CJF, De Zaeytijd J, Inglehearn CF, Kousal B, Leroy BP, Rivolta C, Vaclavik V, van den Ende J, van Schooneveld MJ, Gómez-Skarmeta JL, Tena JJ, Martinez-Morales JR, Liskova P, Vleminckx K, De Baere E. Multi-omics approach dissects cis-regulatory mechanisms underlying North Carolina macular dystrophy, a retinal enhanceropathy. Am J Hum Genet 2022 Nov 3;109(11):2029-2048. Epub 2022 Oct 14. doi: 10.1016/j.ajhg.2022.09.013. PMID: 36243009.
Faizi N, Casteels I , Termote B, Coucke P, De Baere E, De Bruyne M, Balikova I. High myopia and vitreal veils in a patient with Poretti- Boltshauser syndrome due to a novel homozygous LAMA1 mutation. Ophthalmic Genet. 2022 Oct;43(5):653-657. doi: 10.1080/13816810.2022.2068045. Epub 2022 May 10. PMID: 35535551.
Hahn LC, Georgiou M, Almushattat H, van Schooneveld MJ, de Carvalho ER, Wesseling NL, Ten Brink JB , Florijn RJ, Lissenberg-Witte BI , Strubbe I, van Cauwenbergh C , de Zaeytijd J , Walraedt S, De Baere E, Mukherjee R, McKibbin M, Meester-Smoor MA, Thiadens AAHJ , Al-Khuzaei S , Akyol E, Lotery AJ, van Genderen MM, Ossewaarde-van Norel J , van den Born IL , Hoyng CB, Klaver CCW , Downes SM, Bergen AA, Leroy BP, Michaelides M, Boon CJF. The Natural History of Leber Congenital Amaurosis and Cone-Rod Dystrophy Associated with Variants in the GUCY2D Gene. Ophthalmol Retina. 2022 Aug;6(8):711-722. doi: 10.1016/j.oret.2022.03.008. Epub 2022 Mar 18. PMID: 35314386.
Souche E, Beltran S, Brosens E, Belmont JW, Fossum M, Riess O, Gilissen C, Ardeshirdavani A, Houge G, van Gijn M, Clayton-Smith J, Synofzik M, de Leeuw N, Deans ZC, Dincer Y, Eck SH, van der Crabben S , Balasubramanian M, Graessner H, Sturm M, Firth H, Ferlini A , Nabbout R, De Baere E, Liehr T, Macek M, Matthijs G , Scheffer H, Bauer P, Yntema HG, Weiss MM. Recommendations for whole genome sequencing in diagnostics for rare diseases. Eur J Hum Genet. 2022 Sep;30(9):1017-1021. doi: 10.1038/s41431-022-01113-x. Epub 2022 May 16. PMID: 35577938.
Solaki M, Baumann B, Reuter P, Andreasson S, Audo I, Ayuso C, Balousha G, Benedicenti B, Birch D, Bitoun P, Blain D, Bocquet B, Branham K, Català-Mora J, De Baere E, Dollfus H, Falana M, Giorda R, Golovleva I, Gottlob I, Heckenlively JR, Jacobson SG, Jones K, Jägle H, Janecke AR, Kellner U, Liskova P, Lorenz B, Martorell-Sampol L, Messias A, Meunier I, Belga Ottoni Porto F, Papageorgiou E, Plomp AS, de Ravel TJL, Reiff CM, Renner AB, Rosenberg T, Rudolph G, Salati R, Cumhur Sener E, Sieving PA, Stanzial F, Traboulsi EI, Tsang SH, Varsanyi B, Weleber RG, Zobor D, Stingl K, Wissinger B, Kohl S. Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia. Human Mutation 2022 July; 43:7, 832-858. doi: 10.1002/humu.24371. PMID: 35332618.
Tack LJW, Spinoit AF , Hoebeke P, Riedl S, Springer A , Tonnhofer U, Hiess M, Weninger J, Mahmoud A, Tilleman K, Van Laecke E , Juul A, Albrethsen J, De Baere E, Van De Velde J, Verdin H, Cools M. Endocrine outcome and seminal parameters in young adult men born with hypospadias: A cross-sectional cohort study. EBioMedicine. 2022 Jul:81:104119. doi: 10.1016/j.ebiom.2022.104119. Epub 2022 Jun 24. PMID: 35759917.
Naesens L, Nemegeer J, Roelens F, Vallaeys L, Meuwissen M, Janssens K, Verloo P, Ogunjimi B, Hemelsoet D, Program for Undiagnosed Rare Diseases (UD-PrOZA), Hoste L , Roels L, De Bruyne M, De Baere E, Van Dorpe J, Dendooven A, Sieben A, Rice GI, Kerre T, Beyaert R, Uggenti C, Crow YJ, Tavernier SJ, Maelfait J, Haerynck F. Mutations in RNU7-1 weaken secondary RNA structure, induce MCP-1 and CXCL10 in CSF, and result in Aicardi-Goutières syndrome with severe end-organ involvement. Journal of Clinical Immunology 2022 March; Epub ahead of print. doi: 10.1007/s10875-022-01209-5. PMID: 35320431.
Cornelis S, Runhart EH, Bauwens M, Zelia Corradi, De Baere E, Roosing S, Haer-Wigman L, Dhaenens CM, Vulto-van Silfhout AT and Cremers FPM. Personalized genetic counseling for Stargardt disease: offspring risk estimates based on variant severity. American Journal of Human Genetics 2022 March; 109:3, 498-507. doi: 10.1016/j.ajhg.2022.01.008. PMID: 35120629.
Verdin H, Matton C, De Baere E. Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome. 2004 Jul 8 [updated 2022 Mar 10]. Adam MP, Everman DB, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017. Available from http://www.ncbi.nlm.nih.gov/books/NBK1441/. PMID: 20301614.
Hahn LC, van Schooneveld MJ, Wesseling NL, Florijn RJ, ten Brink BAS JB, Lissenberg-Witte BI, Strubbe I, Meester-Smoor MA, Thiadens AA, Diederen RM, van Cauwenbergh C, de Zaeytijd J, Walraedt S, De Baere E, Klaver CCW, Ossewaarde-van Norel J, van den Born LI, Hoyng CB, Boon CJF. X-Linked Retinoschisis: Novel Clinical Observations and Genetic Spectrum in 340 Patients. Ophthalmology 2022 February; 129:2, 191-202. doi: 10.1016/j.ophtha.2021.09.021. PMID: 34624300.
2021
Nguyen XTA, Almushattat H, Strubbe I, Georgiou M, Li CHZ, van Schooneveld MJ, Joniau I, De Baere E, Florijn RJ, Bergen AA, Hoyng CB, Michaelides M, Leroy BP, Boon CJF. The Phenotypic Spectrum of Patients with PHARC Syndrome Due to Variants in ABHD12: An Ophthalmic Perspective. Genes 2021, 12, 1404. https://doi.org/10.3390/genes12091404. PMID: 34573385.
Van Hoorde T, Nerinckx F, Kreps E, Roels D, Huyghe P, Van Heetvelde M, Verdin H, De Baere E, Balikova I, Leroy BP. Expanding the clinical spectrum and management of Traboulsi syndrome: report on two siblings homozygous for a novel pathogenic variant in ASPH. Ophthalmic Genetics 2021 42:4, 493-499. doi: 10.1080/13816810.2021.1923039. PMID: 34018898.
Small KW, Van de Sompele S, Nuytemans K, Vincent A, Yuregir OO, Ciloglu E, Sariyildiz C, Rosseel T, Avetisjan J, Udar N, Vance JM, Pericak-Vance MA, De Baere E, Shaya FS. A novel duplication involving PRDM13 in a Turkish family supports its role in North Carolina macular dystrophy (NCMD/MCDR1). Mol Vis 2021 Sep 1;27:518-527. eCollection 2021. PMID: 34526759.
Saelaert M, Mertes H, Moerenhout T, Van Cauwenbergh C, Leroy BP, Devisch I, De Baere E. A qualitative study among patients with an inherited retinal disease on the meaning of genomic unsolicited findings. Sci Rep. 2021 Aug 4;11(1):15834. doi: 10.1038/s41598-021-95258-2. PMID: 34349199.
De Zaeytijd J, Coppieters F, De Bruyne M, Van Royen J, Roels D, Six R, Van Cauwenbergh C, De Baere E, Leroy BP. Longitudinal phenotypic study of late-onset retinal degeneration due to a founder variant c.562C>A p.(Pro188Thr) in the C1QTNF5 gene. Ophtalmic Genet. 2021 May 5:1-12. doi: 10.1080/13816810.2021.1923041. Epub ahead of print. PMID: 33949280.
Ascari G, Rendtorff ND, De Bruyne M, De Zaeytijd J, Van Lint M, Bauwens M, Van Heetvelde M, Arno G, Jacob J, Creytens D, Van Dorpe J, Van Laethem T, Rosseel T, De Pooter T, De Rijk P, De Coster W, Menten B, Dueñas Rey A, Strazisar M, Bertelsen M, Tranebjarg L, Elfride De Baere. Long-read sequencing to unravel complex strucutral variants of CEP78 leading to Cone-Rod Dystrophy and Hearing Loss. Front. Cell Dev. Biol. 2021 Apr 21;9:664317. doi: 10.3389/fcell.2021.664317. eCollection 2021. PMID: 33968938.
Vandeputte J, Van Heetvelde M, Van Cauwenbergh C, Seneca S, De Baere E, Leroy BP, De Zaeytijd J. Mild Leber hereditary optic neuropathy (LHON) in a Western European family due to the rare Asian m.14502T>C vairant in the MT-ND6 gene. Opthalmic Genet. 2021 Apr 16:1-6. doi: 10.1080/13816810.2021.1913611. Epub ahead of print. PMID: 33858285.
Black GC, Sergouniotis P, Sodi A, Leroy BP, Van Cauwenbergh C, Liskova P, Grønskov K, Klett A, Kohl S, Taurina G, Sukys M, Haer-Wigman L, Nowomiejska K, Marques JP, Leroux D, Cremers FPM, De Baere E, Dollfus H; ERN-EYE study group. The need for widely available genomic testing in rare eye diseases: an ERN-EYE position statement. Orphanet J Rare Dis. 2021 Mar 20;16(1):142. doi: 10.1186/s13023-021-01756-x. PMID: 33743793.
Talib M, Van Cauwenbergh C, De Zaeytijd J, Van Wynsberghe D, De Baere E, Boon CJF, Leroy BP. CRB1-associated retinal dystrophies in a Belgian cohort: genetic characteristics and long-term clinical follow-up. Br J Ophthalmol. 2021 Feb 12:bjophthalmol-2020-316781. doi: 10.1136/bjophthalmol-2020-316781. Epub ahead of print.. PMID: 33579689.
Perea-Romero I, Gordo G, Iancu IF, Del Pozo-Valero M, Almoguera B, Blanco-Kelly F, Carreño E, Jimenez-Rolando B, Lopez-Rodriguez R, Lorda-Sanchez I, Martin-Merida I, Pérez de Ayala L, Riveiro-Alvarez R, Rodriguez-Pinilla E, Tahsin-Swafiri S, Trujillo-Tiebas MJ; ESRETNET Study Group; ERDC Study Group; Associated Clinical Study Group, Garcia-Sandoval B, Minguez P, Avila-Fernandez A, Corton M, Ayuso C. Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications. Sci Rep. 2021 Jan 15;11(1):1526. doi: 10.1038/s41598-021-81093-y. PMID: 33452396.
Strubbe I, Van Cauwenbergh C, De Zaeytijd J, De Jaegere S, De Bruyne M, Rosseel T, Van de Sompele S, De Baere E, Leroy BP. Phenocopy of a heterozygous carrier of X-linked retinitis pigmentosa due to mosaicism for a RHO variant. Sci Rep. 2021 Jan 8;11(1):117. doi: 10.1038/s41598-020-80400-3. PMID: 33420188.
Van Hoorde T, Nerinckx F, Kreps E, Roels D, Huyghe P, Van Heetvelde M, Verdin H, De Baere E, Balikova I, Leroy BP. Expanding the clinical spectrum and management of Traboulsi syndrome: report on two siblings homozygous for a novel pathogenic variant in ASPH. Ophthalmic Genetics 2021 42:4, 493-499. doi: 10.1080/13816810.2021.1923039. PMID: 34018898.
Small KW, Van de Sompele S, Nuytemans K, Vincent A, Yuregir OO, Ciloglu E, Sariyildiz C, Rosseel T, Avetisjan J, Udar N, Vance JM, Pericak-Vance MA, De Baere E, Shaya FS. A novel duplication involving PRDM13 in a Turkish family supports its role in North Carolina macular dystrophy (NCMD/MCDR1). Mol Vis 2021 Sep 1;27:518-527. eCollection 2021. PMID: 34526759.
Saelaert M, Mertes H, Moerenhout T, Van Cauwenbergh C, Leroy BP, Devisch I, De Baere E. A qualitative study among patients with an inherited retinal disease on the meaning of genomic unsolicited findings. Sci Rep. 2021 Aug 4;11(1):15834. doi: 10.1038/s41598-021-95258-2. PMID: 34349199.
De Zaeytijd J, Coppieters F, De Bruyne M, Van Royen J, Roels D, Six R, Van Cauwenbergh C, De Baere E, Leroy BP. Longitudinal phenotypic study of late-onset retinal degeneration due to a founder variant c.562C>A p.(Pro188Thr) in the C1QTNF5 gene. Ophtalmic Genet. 2021 May 5:1-12. doi: 10.1080/13816810.2021.1923041. Epub ahead of print. PMID: 33949280.
Ascari G, Rendtorff ND, De Bruyne M, De Zaeytijd J, Van Lint M, Bauwens M, Van Heetvelde M, Arno G, Jacob J, Creytens D, Van Dorpe J, Van Laethem T, Rosseel T, De Pooter T, De Rijk P, De Coster W, Menten B, Dueñas Rey A, Strazisar M, Bertelsen M, Tranebjarg L, Elfride De Baere. Long-read sequencing to unravel complex strucutral variants of CEP78 leading to Cone-Rod Dystrophy and Hearing Loss. Front. Cell Dev. Biol. 2021 Apr 21;9:664317. doi: 10.3389/fcell.2021.664317. eCollection 2021. PMID: 33968938.
Vandeputte J, Van Heetvelde M, Van Cauwenbergh C, Seneca S, De Baere E, Leroy BP, De Zaeytijd J. Mild Leber hereditary optic neuropathy (LHON) in a Western European family due to the rare Asian m.14502T>C vairant in the MT-ND6 gene. Opthalmic Genet. 2021 Apr 16:1-6. doi: 10.1080/13816810.2021.1913611. Epub ahead of print. PMID: 33858285.
Black GC, Sergouniotis P, Sodi A, Leroy BP, Van Cauwenbergh C, Liskova P, Grønskov K, Klett A, Kohl S, Taurina G, Sukys M, Haer-Wigman L, Nowomiejska K, Marques JP, Leroux D, Cremers FPM, De Baere E, Dollfus H; ERN-EYE study group. The need for widely available genomic testing in rare eye diseases: an ERN-EYE position statement. Orphanet J Rare Dis. 2021 Mar 20;16(1):142. doi: 10.1186/s13023-021-01756-x. PMID: 33743793.
Talib M, Van Cauwenbergh C, De Zaeytijd J, Van Wynsberghe D, De Baere E, Boon CJF, Leroy BP. CRB1-associated retinal dystrophies in a Belgian cohort: genetic characteristics and long-term clinical follow-up. Br J Ophthalmol. 2021 Feb 12:bjophthalmol-2020-316781. doi: 10.1136/bjophthalmol-2020-316781. Epub ahead of print.. PMID: 33579689.
Perea-Romero I, Gordo G, Iancu IF, Del Pozo-Valero M, Almoguera B, Blanco-Kelly F, Carreño E, Jimenez-Rolando B, Lopez-Rodriguez R, Lorda-Sanchez I, Martin-Merida I, Pérez de Ayala L, Riveiro-Alvarez R, Rodriguez-Pinilla E, Tahsin-Swafiri S, Trujillo-Tiebas MJ; ESRETNET Study Group; ERDC Study Group; Associated Clinical Study Group, Garcia-Sandoval B, Minguez P, Avila-Fernandez A, Corton M, Ayuso C. Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications. Sci Rep. 2021 Jan 15;11(1):1526. doi: 10.1038/s41598-021-81093-y. PMID: 33452396.
Strubbe I, Van Cauwenbergh C, De Zaeytijd J, De Jaegere S, De Bruyne M, Rosseel T, Van de Sompele S, De Baere E, Leroy BP. Phenocopy of a heterozygous carrier of X-linked retinitis pigmentosa due to mosaicism for a RHO variant. Sci Rep. 2021 Jan 8;11(1):117. doi: 10.1038/s41598-020-80400-3. PMID: 33420188.
2020
Poulter JA, Gravett MSC, Taylor RL, Fujinami K, De Zaeytijd J, Bellingham J, Rehman AU, Hayashi T, Kondo M, Rehman A, Ansar M, Donnelly D, Toomes C, Ali M; UK Inherited Retinal Disease Consortium, Genomics England Research Consortium, De Baere E, Leroy BP, Davies NP, Henderson RH, Webster AR, Rivolta C, Zeitz C, Mahroo OA, Arno G, Black GCM, McKibbin M, Harris SA, Khan KN, Inglehearn CF. New variants and in silico analyses in GRK1 associated Oguchi disease. Hum Mutat. 2021 Feb;42(2):164-176. doi: 10.1002/humu.24140. Epub ahead of print. PMID: 33252155.
Mechaussier S., Almoallem B, Zeitz C., Van Schil K, Jeddawi L, Van Dorpe J, Dueñas Rey A, Condroyer C, Pelle O, Polak M, Boddaert N, Bahi-Buisson N, Cavallin M, Bacquet JL, Mouallem-Beziere A, Zambrowski O, Sahel JA, Audo I, Kaplan J, Rozet JM, De Baere E, and Perrault I. Loss of Function of RIMS2 Causes a Syndromic Congenital Cone-Rod Synaptic Disease with Neurodevelopmental and Pancreatic Involvement. AM. J. Hum. Genet. 2020 Jun 4. doi: 106 (6): 859–871. doi:10.1016/j.ajhg.2020.04.018. PMID: 32470375.
Khan M, Cornelis SS, Pozo-Valero MD, Whelan L, Runhart EH, Mishra K, Bults F, AlSwaiti Y, AlTalbishi A, De Baere E, Banfi S, Banin E, Bauwens M, Ben-Yosef T, Boon CJF, van den Born LI, Defoort S, Devos A, Dockery A, Dudakova L, Fakin A, Farrar GJ, Sallum JMF, Fujinami K, Gilissen C, Glavač D, Gorin MB, Greenberg J, Hayashi T, Hettinga YM, Hoischen A, Hoyng CB, Hufendiek K, Jägle H, Kamakari S, Karali M, Kellner U, Klaver CCW, Kousal B, Lamey TM, MacDonald IM, Matynia A, McLaren TL, Mena MD, Meunier I, Miller R, Newman H, Ntozini B, Oldak M, Pieterse M, Podhajcer OL, Puech B, Ramesar R, Rüther K, Salameh M, Salles MV, Sharon D, Simonelli F, Spital G, Steehouwer M, Szaflik JP, Thompson JA, Thuillier C, Tracewska AM, van Zweeden M, Vincent AL, Zanlonghi X, Liskova P, Stöhr H, Roach JN, Ayuso C, Roberts L, Weber BHF, Dhaenens CM, Cremers FPM. Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics. Genet Med. 2020 Apr 20. doi: 10.1038/s41436-020-0787-4. Epub ahead of print. PMID: 32307445.
Bever YV, Brüggenwirth HT, Wolffenbuttel KP, Dessens AB, Groenenberg IAL, Knapen MFCM, De Baere E, Cools M, van Ravenswaaij-Arts CMA, Sikkema-Raddatz B, Claahsen-van der Grinten H, Kempers M, Rinne T, Hersmus R, Looijenga L, Hannema SE. Under-reported aspects of diagnosis and treatment addressed in the Dutch-Flemish guideline for comprehensive diagnostics in disorders/differences of sex development. J Med Genet. 2020 Apr 17. pii: jmedgenet-2019-106354. doi: 10.1136/jmedgenet-2019-106354. Review. PMID: 32303604.
Nguyen XT, Talib M, van Cauwenbergh C, van Schooneveld MJ, Fiocco M, Wijnholds J, Ten Brink JB, Florijn RJ, Schalij-Delfos NE, Dagnelie G, van Genderen MM, De Baere E, Meester-Smoor MA, De Zaeytijd J, Balikova I, Thiadens AA, Hoyng CB, Klaver CC, van den Born LI, Bergen AA, Leroy BP, Boon CJF. CLINICAL CHARACTERISTICS AND NATURAL HISTORY OF RHO-ASSOCIATED RETINITIS PIGMENTOSA: A Long-Term Follow-Up Study. Retina. 2020 Apr 15. doi: 10.1097/IAE.0000000000002808. PMID: 32301896.
Pozza E, Verdin H, Deconinck H, Dheedene A, Menten B, De Baere E, Balikova I. Microcoria due to first duplication of 13q32.1 including the GPR180 gene and maternal mosaicism. Eur J Med Genet. 2020 Mar 19:103918. doi: 10.1016/j.ejmg.2020.103918. PMID: 32200002.
Balikova I, Sanak NS, Fanny D, Smits G, Soblet J, De Baere E, Cordonnier M. Three cases of molecularly confirmed Knobloch syndrome. Ophthalmic Genet. 2020 Feb;41(1):83-87. doi: 10.1080/13816810.2020.1737948. Epub 2020 Mar 17. PMID: 32178553.
Yan K, Rousseau J, Machol K, Cross LA, Agre KE, Gibson CF, Goverde A, Engleman KL, Verdin H, De Baere E, Potocki L, Zhou D, Cadieux-Dion M, Bellus GA, Wagner MD, Hale RJ, Esber N, Riley AF, Solomon BD, Cho MT, McWalter K, Eyal R, Hainlen MK, Mendelsohn BA, Porter HM, Lanpher BC, Lewis AM, Savatt J, Thiffault I, Callewaert B, Campeau PM, Yang XJ. Deficient histone H3 propionylation by BRPF1-KAT6 complexes in neurodevelopmental disorders and cancer. Sci Adv. 2020 Jan 22;6(4):eaax0021. doi: 10.1126/sciadv.aax0021. eCollection 2020 Jan. PMID: 32010779.
Saelaert M, Mertes H, Moerenhout T, De Baere E, Devisch I. Ethical values supporting the disclosure of incidental and secondary findings in clinical genomic testing: a qualitative study. BMC Med Ethics. 2020 Jan 30;21(1):9. doi: 10.1186/s12910-020-0452-0. PMID: 32000764.
Cherry TJ, Yang MG, Harmin DA, Tao P, Timms AE, Bauwens M, Allikmets R, Jones EM, Chen R, De Baere E, Greenberg ME. Mapping the cis-regulatory architecture of the human retina reveals noncoding genetic variation in disease. Proc Natl Acad Sci U S A. 2020 Apr 7:201922501. doi: 10.1073/pnas.1922501117. Epub ahead of print. PMID: 32265282.
Ascari G, Peelman F, Farinelli P, Rosseel T, Lambrechts N, Wunderlich KA, Wagner M, Nikopoulos K, Martens P, Balikova I, Derycke L, Holtappels G, Krysko O, Van Laethem T, De Jaegere S, Guillemyn B, De Rycke R, De Bleecker J, Creytens D, Van Dorpe J, Gerris J, Bachert C, Neuhofer C, Walraedt S, Bischoff A, Pedersen LB, Klopstock T, Rivolta C, Leroy BP, De Baere E, Coppieters F. Functional characterization of the first missense variant in CEP78, a founder allele associated with cone-rod dystrophy, hearing loss, and reduced male fertility. Hum Mutat. 2020 Jan 30. doi: 10.1002/humu.23993. Epub ahead of print. PMID: 31999394.
Almoallem B, Arno G, De Zaeytijd J, Verdin H, Balikova I, Casteels I, de Ravel T, Hull S, Suzani M, Destrée A, Peng M, Williams D, Ainsworth JR, Webster AR, Leroy BP, Moore AT, De Baere E. The majority of autosomal recessive nanophthalmos and posterior microphthalmia can be attributed to biallelic sequence and structural variants in MFRP and PRSS56. Sci Rep. 2020 Jan 28;10(1):1289. doi: 10.1038/s41598-019-57338-2. PMID: 31992737.
Bauwens M, Storch S, Weisschuh N, Ceuterick-de Groote C, De Rycke R, Guillemyn B, De Jaegere S, Coppieters F, Van Coster R, Leroy BP, De Baere E. Functional characterization of novel MFSD8 pathogenic variants anticipates neurological involvement in juvenile isolated maculopathy. Clin Genet. 2020 Mar;97(3):426-436. doi: 10.1111/cge.13673. Epub 2019 Dec 12. PMID: 31721179.
Mechaussier S., Almoallem B, Zeitz C., Van Schil K, Jeddawi L, Van Dorpe J, Dueñas Rey A, Condroyer C, Pelle O, Polak M, Boddaert N, Bahi-Buisson N, Cavallin M, Bacquet JL, Mouallem-Beziere A, Zambrowski O, Sahel JA, Audo I, Kaplan J, Rozet JM, De Baere E, and Perrault I. Loss of Function of RIMS2 Causes a Syndromic Congenital Cone-Rod Synaptic Disease with Neurodevelopmental and Pancreatic Involvement. AM. J. Hum. Genet. 2020 Jun 4. doi: 106 (6): 859–871. doi:10.1016/j.ajhg.2020.04.018. PMID: 32470375.
Khan M, Cornelis SS, Pozo-Valero MD, Whelan L, Runhart EH, Mishra K, Bults F, AlSwaiti Y, AlTalbishi A, De Baere E, Banfi S, Banin E, Bauwens M, Ben-Yosef T, Boon CJF, van den Born LI, Defoort S, Devos A, Dockery A, Dudakova L, Fakin A, Farrar GJ, Sallum JMF, Fujinami K, Gilissen C, Glavač D, Gorin MB, Greenberg J, Hayashi T, Hettinga YM, Hoischen A, Hoyng CB, Hufendiek K, Jägle H, Kamakari S, Karali M, Kellner U, Klaver CCW, Kousal B, Lamey TM, MacDonald IM, Matynia A, McLaren TL, Mena MD, Meunier I, Miller R, Newman H, Ntozini B, Oldak M, Pieterse M, Podhajcer OL, Puech B, Ramesar R, Rüther K, Salameh M, Salles MV, Sharon D, Simonelli F, Spital G, Steehouwer M, Szaflik JP, Thompson JA, Thuillier C, Tracewska AM, van Zweeden M, Vincent AL, Zanlonghi X, Liskova P, Stöhr H, Roach JN, Ayuso C, Roberts L, Weber BHF, Dhaenens CM, Cremers FPM. Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics. Genet Med. 2020 Apr 20. doi: 10.1038/s41436-020-0787-4. Epub ahead of print. PMID: 32307445.
Bever YV, Brüggenwirth HT, Wolffenbuttel KP, Dessens AB, Groenenberg IAL, Knapen MFCM, De Baere E, Cools M, van Ravenswaaij-Arts CMA, Sikkema-Raddatz B, Claahsen-van der Grinten H, Kempers M, Rinne T, Hersmus R, Looijenga L, Hannema SE. Under-reported aspects of diagnosis and treatment addressed in the Dutch-Flemish guideline for comprehensive diagnostics in disorders/differences of sex development. J Med Genet. 2020 Apr 17. pii: jmedgenet-2019-106354. doi: 10.1136/jmedgenet-2019-106354. Review. PMID: 32303604.
Nguyen XT, Talib M, van Cauwenbergh C, van Schooneveld MJ, Fiocco M, Wijnholds J, Ten Brink JB, Florijn RJ, Schalij-Delfos NE, Dagnelie G, van Genderen MM, De Baere E, Meester-Smoor MA, De Zaeytijd J, Balikova I, Thiadens AA, Hoyng CB, Klaver CC, van den Born LI, Bergen AA, Leroy BP, Boon CJF. CLINICAL CHARACTERISTICS AND NATURAL HISTORY OF RHO-ASSOCIATED RETINITIS PIGMENTOSA: A Long-Term Follow-Up Study. Retina. 2020 Apr 15. doi: 10.1097/IAE.0000000000002808. PMID: 32301896.
Pozza E, Verdin H, Deconinck H, Dheedene A, Menten B, De Baere E, Balikova I. Microcoria due to first duplication of 13q32.1 including the GPR180 gene and maternal mosaicism. Eur J Med Genet. 2020 Mar 19:103918. doi: 10.1016/j.ejmg.2020.103918. PMID: 32200002.
Balikova I, Sanak NS, Fanny D, Smits G, Soblet J, De Baere E, Cordonnier M. Three cases of molecularly confirmed Knobloch syndrome. Ophthalmic Genet. 2020 Feb;41(1):83-87. doi: 10.1080/13816810.2020.1737948. Epub 2020 Mar 17. PMID: 32178553.
Yan K, Rousseau J, Machol K, Cross LA, Agre KE, Gibson CF, Goverde A, Engleman KL, Verdin H, De Baere E, Potocki L, Zhou D, Cadieux-Dion M, Bellus GA, Wagner MD, Hale RJ, Esber N, Riley AF, Solomon BD, Cho MT, McWalter K, Eyal R, Hainlen MK, Mendelsohn BA, Porter HM, Lanpher BC, Lewis AM, Savatt J, Thiffault I, Callewaert B, Campeau PM, Yang XJ. Deficient histone H3 propionylation by BRPF1-KAT6 complexes in neurodevelopmental disorders and cancer. Sci Adv. 2020 Jan 22;6(4):eaax0021. doi: 10.1126/sciadv.aax0021. eCollection 2020 Jan. PMID: 32010779.
Saelaert M, Mertes H, Moerenhout T, De Baere E, Devisch I. Ethical values supporting the disclosure of incidental and secondary findings in clinical genomic testing: a qualitative study. BMC Med Ethics. 2020 Jan 30;21(1):9. doi: 10.1186/s12910-020-0452-0. PMID: 32000764.
Cherry TJ, Yang MG, Harmin DA, Tao P, Timms AE, Bauwens M, Allikmets R, Jones EM, Chen R, De Baere E, Greenberg ME. Mapping the cis-regulatory architecture of the human retina reveals noncoding genetic variation in disease. Proc Natl Acad Sci U S A. 2020 Apr 7:201922501. doi: 10.1073/pnas.1922501117. Epub ahead of print. PMID: 32265282.
Ascari G, Peelman F, Farinelli P, Rosseel T, Lambrechts N, Wunderlich KA, Wagner M, Nikopoulos K, Martens P, Balikova I, Derycke L, Holtappels G, Krysko O, Van Laethem T, De Jaegere S, Guillemyn B, De Rycke R, De Bleecker J, Creytens D, Van Dorpe J, Gerris J, Bachert C, Neuhofer C, Walraedt S, Bischoff A, Pedersen LB, Klopstock T, Rivolta C, Leroy BP, De Baere E, Coppieters F. Functional characterization of the first missense variant in CEP78, a founder allele associated with cone-rod dystrophy, hearing loss, and reduced male fertility. Hum Mutat. 2020 Jan 30. doi: 10.1002/humu.23993. Epub ahead of print. PMID: 31999394.
Almoallem B, Arno G, De Zaeytijd J, Verdin H, Balikova I, Casteels I, de Ravel T, Hull S, Suzani M, Destrée A, Peng M, Williams D, Ainsworth JR, Webster AR, Leroy BP, Moore AT, De Baere E. The majority of autosomal recessive nanophthalmos and posterior microphthalmia can be attributed to biallelic sequence and structural variants in MFRP and PRSS56. Sci Rep. 2020 Jan 28;10(1):1289. doi: 10.1038/s41598-019-57338-2. PMID: 31992737.
Bauwens M, Storch S, Weisschuh N, Ceuterick-de Groote C, De Rycke R, Guillemyn B, De Jaegere S, Coppieters F, Van Coster R, Leroy BP, De Baere E. Functional characterization of novel MFSD8 pathogenic variants anticipates neurological involvement in juvenile isolated maculopathy. Clin Genet. 2020 Mar;97(3):426-436. doi: 10.1111/cge.13673. Epub 2019 Dec 12. PMID: 31721179.
2019
Bogaert DJ, Laureys G, Naesens L, Mazure D, De Bruyne M, Hsu AP, Bordon V, Wouters E, Tavernier SJ, Lambrecht BN, De Baere E, Haerynck F, Kerre T. GATA2 deficiency and haematopoietic stem cell transplantation: challenges for the clinical practitioner. Br J Haematol. 2019 Nov 11. doi: 10.1111/bjh.16247. PMID: 31710708.
Tavernier SJ, Athanasopoulos V, Verloo P, Behrens G, Staal J, Bogaert DJ, Naesens L, De Bruyne M, Van Gassen S, Parthoens E, Ellyard J, Cappello J, Morris LX, Van Gorp H, Van Isterdael G, Saeys Y, Lamkanfi M, Schelstraete P, Dehoorne J, Bordon V, Van Coster R, Lambrecht BN, Menten B, Beyaert R, Vinuesa CG, Heissmeyer V, Dullaers M, Haerynck F. A human immune dysregulation syndrome characterized by severe hyperinflammation with a homozygous nonsense Roquin-1 mutation. Nat Commun. 2019 Oct 21;10(1):4779. doi: 10.1038/s41467-019-12704-6. PMID: 31636267.
Saelaert M, Mertes H, Moerenhout T, De Baere E, Devisch I. Criteria for reporting incidental findings in clinical exome sequencing - a focus group study on professional practices and perspectives in Belgian genetic centres. BMC Med Genomics. 2019 Aug 20;12(1):123. doi: 10.1186/s12920-019-0561-0. PMID: 31429751.
Talib M, van Schooneveld MJ, van Duuren RJG, Van Cauwenbergh C, Ten Brink JB, De Baere E, Florijn RJ, Schalij-Delfos NE, Leroy BP, Bergen AA, Boon CJF. Long-Term Follow-Up of Retinal Degenerations Associated With LRAT Mutations and Their Comparability to Phenotypes Associated With RPE65 Mutations. Transl Vis SciTechnol. 2019 Aug 19;8(4):24. doi: 10.1167/tvst.8.4.24. eCollection 2019 Jul. PMID: 31448181.
Zeitz C, Michiels C, Neuillé M, Friedburg C, Condroyer C, Boyard F, Antonio A, Bouzidi N, Milicevic D, Veaux R, Tourville A, Zoumba A, Seneina I, Foussard M, Andrieu C, N Preising M, Blanchard S, Saraiva JP, Mesrob L, Le Floch E, Jubin C,
Meyer V, Blanché H, Boland A, Deleuze JF, Sharon D, Drumare I, Defoort-Dhellemmes S, De Baere E, Leroy BP, Zanlonghi X, Casteels I, de Ravel TJ, Balikova I, K Koenekoop R, Laffargue F, McLean R, Gottlob I, Bonneau D, Schorderet DF, L Munier F, McKibbin M, Prescott K, Pelletier V, Dollfus H, Perdomo-Trujillo Y, Faure C, Reiff C, Wissinger B, Meunier I, Kohl S, Banin E, Zrenner E, Jurklies B, Lorenz B, Sahel JA, Audo I. Where are the missing gene defects in inherited retinal disorders? Intronic and synonymous variants contribute at least to 4% of CACNA1F-mediated inherited retinal disorders. Hum Mutat. 2019 Jun;40(6):765-787. doi: 10.1002/humu.23735. Epub 2019 Mar 28. PMID: 30825406.
Mayer AK, Mahajnah M, Thomas MG, Cohen Y, Habib A, Schulze M, Maconachie GDE, AlMoallem B, De Baere E, Lorenz B, Traboulsi EI, Kohl S, Azem A, Bauer P, Gottlob I, Sharkia R, Wissinger B. Homozygous stop mutation in AHR causes autosomal recessive foveal hypoplasia and infantile nystagmus. Brain. 2019 Jun 1;142(6):1528-1534. doi: 10.1093/brain/awz098. PMID: 31009037.
Del Pozo-Valero M, Martin-Merida I, Jimenez-Rolando B, Arteche A, Avila-Fernandez A, Blanco-Kelly F, Riveiro-Alvarez R, Van Cauwenbergh C, De Baere E, Rivolta C, Garcia-Sandoval B, Corton M, Ayuso C. Expanded phenotypic spectrum of retinopathies associated with autosomal recessive and dominant mutations in PROM1. Am J Ophthalmol. 2019 May 23. pii: S0002-9394(19)30244-2. doi: 10.1016/j.ajo.2019.05.014. Epub ahead of print. PMID: 31129250.
Naessens S, Ruysschaert L, Lefever S, Coppieters F, De Baere E. Antisense Oligonucleotide-Based Downregulation of the G56R Pathogenic Variant Causing NR2E3-Associated Autosomal Dominant Retinitis Pigmentosa. Genes (Basel). 2019 May 10;10(5). pii: E363. doi: 10.3390/genes10050363. PMID: 31083481.
Baetens D, Verdin H, De Baere E, Cools M. Update on the genetics of differences of sex development (DSD). Best Pract Res Clin Endocrinol Metab. 2019 Apr 13. pii: S1521-690X(19)30014-4. doi: 10.1016/j.beem.2019.04.005. [Epub ahead of print] Review. PMID: 31005504.
Acosta-Herrera M, Kerick M, González-Serna D; Myositis Genetics Consortium; Scleroderma Genetics Consortium, Wijmenga C, Franke A, Gregersen PK, Padyukov L, Worthington J, Vyse TJ, Alarcón-Riquelme ME, Mayes MD, Martin J. Genome-wide meta-analysis reveals shared new loci in systemic seropositive rheumatic diseases. Ann Rheum Dis. 2019 Mar;78(3):311-319. doi: 10.1136/annrheumdis-2018-214127. Epub 2018 Dec 20. PMID: 30573655.
Bauwens M, Garanto A, Sangermano R, Naessens S, Weisschuh N, De Zaeytijd J, Khan M, Sadler F, Balikova I, Van Cauwenbergh C, Rosseel T, Bauwens J, De Leeneer K, De Jaegere S, Van Laethem T, De Vries M, Carss K, Arno G, Fakin A, Webster AR, de Ravel de l'Argentière TJL, Sznajer Y, Vuylsteke M, Kohl S, Wissinger B, Cherry T, Collin RWJ, Cremers FPM, Leroy BP, De Baere E. ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders: novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variants. Genet Med. 2019 Jan 23. doi: 10.1038/s41436-018-0420-y. Epub ahead of print. PMID: 30670881.
Sangermano R, Garanto A, Khan M, Runhart EH, Bauwens M, Bax NM, van den Born LI, Khan MI, Cornelis SS, Verheij JBGM, Pott JR, Thiadens AAHJ, Klaver CCW, Puech B, Meunier I, Naessens S, Arno G, Fakin A, Carss KJ, Raymond FL, Webster AR, Dhaenens CM, Stöhr H, Grassmann F, Weber BHF, Hoyng CB, De Baere E, Albert S, Collin RWJ, Cremers FPM. Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides. Genet Med. 2019 Jan 15. doi: 10.1038/s41436-018-0414-9. Epub ahead of print. PMID: 30643219.
Tavernier SJ, Athanasopoulos V, Verloo P, Behrens G, Staal J, Bogaert DJ, Naesens L, De Bruyne M, Van Gassen S, Parthoens E, Ellyard J, Cappello J, Morris LX, Van Gorp H, Van Isterdael G, Saeys Y, Lamkanfi M, Schelstraete P, Dehoorne J, Bordon V, Van Coster R, Lambrecht BN, Menten B, Beyaert R, Vinuesa CG, Heissmeyer V, Dullaers M, Haerynck F. A human immune dysregulation syndrome characterized by severe hyperinflammation with a homozygous nonsense Roquin-1 mutation. Nat Commun. 2019 Oct 21;10(1):4779. doi: 10.1038/s41467-019-12704-6. PMID: 31636267.
Saelaert M, Mertes H, Moerenhout T, De Baere E, Devisch I. Criteria for reporting incidental findings in clinical exome sequencing - a focus group study on professional practices and perspectives in Belgian genetic centres. BMC Med Genomics. 2019 Aug 20;12(1):123. doi: 10.1186/s12920-019-0561-0. PMID: 31429751.
Talib M, van Schooneveld MJ, van Duuren RJG, Van Cauwenbergh C, Ten Brink JB, De Baere E, Florijn RJ, Schalij-Delfos NE, Leroy BP, Bergen AA, Boon CJF. Long-Term Follow-Up of Retinal Degenerations Associated With LRAT Mutations and Their Comparability to Phenotypes Associated With RPE65 Mutations. Transl Vis SciTechnol. 2019 Aug 19;8(4):24. doi: 10.1167/tvst.8.4.24. eCollection 2019 Jul. PMID: 31448181.
Zeitz C, Michiels C, Neuillé M, Friedburg C, Condroyer C, Boyard F, Antonio A, Bouzidi N, Milicevic D, Veaux R, Tourville A, Zoumba A, Seneina I, Foussard M, Andrieu C, N Preising M, Blanchard S, Saraiva JP, Mesrob L, Le Floch E, Jubin C,
Meyer V, Blanché H, Boland A, Deleuze JF, Sharon D, Drumare I, Defoort-Dhellemmes S, De Baere E, Leroy BP, Zanlonghi X, Casteels I, de Ravel TJ, Balikova I, K Koenekoop R, Laffargue F, McLean R, Gottlob I, Bonneau D, Schorderet DF, L Munier F, McKibbin M, Prescott K, Pelletier V, Dollfus H, Perdomo-Trujillo Y, Faure C, Reiff C, Wissinger B, Meunier I, Kohl S, Banin E, Zrenner E, Jurklies B, Lorenz B, Sahel JA, Audo I. Where are the missing gene defects in inherited retinal disorders? Intronic and synonymous variants contribute at least to 4% of CACNA1F-mediated inherited retinal disorders. Hum Mutat. 2019 Jun;40(6):765-787. doi: 10.1002/humu.23735. Epub 2019 Mar 28. PMID: 30825406.
Mayer AK, Mahajnah M, Thomas MG, Cohen Y, Habib A, Schulze M, Maconachie GDE, AlMoallem B, De Baere E, Lorenz B, Traboulsi EI, Kohl S, Azem A, Bauer P, Gottlob I, Sharkia R, Wissinger B. Homozygous stop mutation in AHR causes autosomal recessive foveal hypoplasia and infantile nystagmus. Brain. 2019 Jun 1;142(6):1528-1534. doi: 10.1093/brain/awz098. PMID: 31009037.
Del Pozo-Valero M, Martin-Merida I, Jimenez-Rolando B, Arteche A, Avila-Fernandez A, Blanco-Kelly F, Riveiro-Alvarez R, Van Cauwenbergh C, De Baere E, Rivolta C, Garcia-Sandoval B, Corton M, Ayuso C. Expanded phenotypic spectrum of retinopathies associated with autosomal recessive and dominant mutations in PROM1. Am J Ophthalmol. 2019 May 23. pii: S0002-9394(19)30244-2. doi: 10.1016/j.ajo.2019.05.014. Epub ahead of print. PMID: 31129250.
Naessens S, Ruysschaert L, Lefever S, Coppieters F, De Baere E. Antisense Oligonucleotide-Based Downregulation of the G56R Pathogenic Variant Causing NR2E3-Associated Autosomal Dominant Retinitis Pigmentosa. Genes (Basel). 2019 May 10;10(5). pii: E363. doi: 10.3390/genes10050363. PMID: 31083481.
Baetens D, Verdin H, De Baere E, Cools M. Update on the genetics of differences of sex development (DSD). Best Pract Res Clin Endocrinol Metab. 2019 Apr 13. pii: S1521-690X(19)30014-4. doi: 10.1016/j.beem.2019.04.005. [Epub ahead of print] Review. PMID: 31005504.
Acosta-Herrera M, Kerick M, González-Serna D; Myositis Genetics Consortium; Scleroderma Genetics Consortium, Wijmenga C, Franke A, Gregersen PK, Padyukov L, Worthington J, Vyse TJ, Alarcón-Riquelme ME, Mayes MD, Martin J. Genome-wide meta-analysis reveals shared new loci in systemic seropositive rheumatic diseases. Ann Rheum Dis. 2019 Mar;78(3):311-319. doi: 10.1136/annrheumdis-2018-214127. Epub 2018 Dec 20. PMID: 30573655.
Bauwens M, Garanto A, Sangermano R, Naessens S, Weisschuh N, De Zaeytijd J, Khan M, Sadler F, Balikova I, Van Cauwenbergh C, Rosseel T, Bauwens J, De Leeneer K, De Jaegere S, Van Laethem T, De Vries M, Carss K, Arno G, Fakin A, Webster AR, de Ravel de l'Argentière TJL, Sznajer Y, Vuylsteke M, Kohl S, Wissinger B, Cherry T, Collin RWJ, Cremers FPM, Leroy BP, De Baere E. ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders: novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variants. Genet Med. 2019 Jan 23. doi: 10.1038/s41436-018-0420-y. Epub ahead of print. PMID: 30670881.
Sangermano R, Garanto A, Khan M, Runhart EH, Bauwens M, Bax NM, van den Born LI, Khan MI, Cornelis SS, Verheij JBGM, Pott JR, Thiadens AAHJ, Klaver CCW, Puech B, Meunier I, Naessens S, Arno G, Fakin A, Carss KJ, Raymond FL, Webster AR, Dhaenens CM, Stöhr H, Grassmann F, Weber BHF, Hoyng CB, De Baere E, Albert S, Collin RWJ, Cremers FPM. Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides. Genet Med. 2019 Jan 15. doi: 10.1038/s41436-018-0414-9. Epub ahead of print. PMID: 30643219.
2018
De Bruyne M, Hoste L, Bogaert DJ, Van den Bossche L, Tavernier SJ, Parthoens E, Migaud M, Konopnicki D, Yombi JC, Lambrecht BN, van Daele S, Alves de Medeiros AK, Brochez L, Beyaert R, De Baere E, Puel A, Casanova JL, Goffard JC, Savvides SN, Haerynck F, Staal J, Dullaers M. A CARD9 Founder Mutation Disrupts NF-κB Signaling by Inhibiting BCL10 and MALT1 Recruitment and Signalosome Formation. Front Immunol. 2018 Oct 31;9:2366. doi: 10.3389/fimmu.2018.02366. eCollection 2018. PMID: 30429846.
Van de Sompele S, Smith C, Karali M, Corton M, Van Schil K, Peelman F, Cherry T, Rosseel T, Verdin H, Derolez J, Van Laethem T, Khan KN, McKibbin M, Toomes C, Ali M, Torella A, Testa F, Jimenez B, Simonelli F, De Zaeytijd J, Van den Ende J, Leroy BP, Coppieters F, Ayuso C, Inglehearn CF, Banfi S, De Baere E. Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease. Genet Med. 2018 Oct 31. doi: 10.1038/s41436-018-0345-5. PMID: 30377383.
Timothy J. Cherry, Marty G. Yang, David A. Harmin, Peter Tao, Andrew E. Timms, Miriam Bauwens, Rando Allikmets, Evan M. Jones, Rui Chen, Elfride De Baere, Michael E. Greenberg. Epigenomic Profiling and Single-Nucleus-RNA-Seq Reveal Cis-Regulatory Elements in Human Retina, Macula and RPE and Non-Coding Genetic Variation, bioRxiv Sep 2018. doi.:10.1101/412361.
De Bruyne M, Bogaert DJ, Venken K, Van den Bossche L, Bonroy C, Roels L, Tavernier SJ, van de Vijver E, Driessen A, van Gijn M, Gámez-Diaz L, Elewaut D, Grimbacher B, Haerynck F, Moes N, Dullaers M. A novel LPS-responsive beige-like
anchor protein (LRBA) mutation presents with normal cytotoxic T lymphocyte-associated protein 4 (CTLA-4) and overactive T(H)17 immunity. J Allergy Clin Immunol. 2018 Sep 5. pii: S0091-6749(18)31270-3. doi:10.1016/j.jaci.2018.08.026. PMID: 30193839
Talib M, van Schooneveld MJ, Van Cauwenbergh C, Wijnholds J, Ten Brink JB, Florijn RJ, Schalij-Delfos NE, Dagnelie G, van Genderen MM, De Baere E, Meester-Smoor MA, De Zaeytijd J, Cremers FPM, van den Born LI, Thiadens AA, Hoyng
CB, Klaver CC, Leroy BP, Bergen AA, Boon CJF. The Spectrum of Structural and Functional Abnormalities in Female Carriers of Pathogenic Variants in the RPGR Gene. Invest Ophthalmol Vis Sci. 2018 Aug 1;59(10):4123-4133. doi:10.1167/iovs.17-23453. PMID: 30105367.
Weisschuh N, Stingl K, Audo I, Biskup S, Bocquet B, Branham K, Burstedt MS, De Baere E, De Vries MJ, Golovleva I, Green A, Heckenlively J, Leroy BP, Meunier I, Traboulsi E, Wissinger B, Kohl S. Mutations in the gene PDE6C encoding the catalytic subunit of the cone photoreceptor phosphodiesterase in patients with achromatopsia. Hum Mutat. 2018 Oct;39(10):1366-1371. doi: 10.1002/humu.23606. Epub 2018 Aug 22. PMID: 30080950.
Rosain J, Oleaga-Quintas C, Deswarte C, Verdin H, Marot S, Syridou G, Mansouri M, Mahdaviani SA, Venegas-Montoya E, Tsolia M, Mesdaghi M, Chernyshova L, Stepanovskiy Y, Parvaneh N, Mansouri D, Pedraza-Sánchez S, Bondarenko A, Espinosa-Padilla SE, Yamazaki-Nakashimada MA, Nieto-Patlán A, Kerner G, Lambert N, Jacques C, Corvilain E, Migaud M, Grandin V, Herrera MT, Jabot-Hanin F, Boisson-Dupuis S, Picard C, Nitschke P, Puel A, Tores F, Abel L, Blancas-Galicia L, De Baere E, Bole-Feysot C, Casanova JL, Bustamante J. A Variety of Alu-Mediated Copy Number Variations Can Underlie IL-12Rβ1 Deficiency. J Clin Immunol. 2018 Jul 11. doi: 10.1007/s10875-018-0527-6. [Epub ahead of print] PMID: 29995221.
Saelaert M, Mertes H, De Baere E, Devisch I. Incidental or secondary findings: an integrative and patient-inclusive approach to the current debate. Eur J Hum Genet. 2018 Oct;26(10):1424-1431. doi: 10.1038/s41431-018-0200-9. Epub 2018 Jul 3. PMID: 29970927; PMCID: PMC6138744.
Van de Sompele S, Smith C, Karali M, Corton M, Van Schil K, Peelman F, Cherry T, Rosseel T, Verdin H, Derolez J, Van Laethem T, Khan KN, McKibbin M, Toomes C, Ali M, Torella A, Testa F, Jimenez B, Simonelli F, De Zaeytijd J, Van den Ende J, Leroy BP, Coppieters F, Ayuso C, Inglehearn CF, Banfi S, De Baere E. Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease. Genet Med. 2018 Oct 31. doi: 10.1038/s41436-018-0345-5. PMID: 30377383.
Timothy J. Cherry, Marty G. Yang, David A. Harmin, Peter Tao, Andrew E. Timms, Miriam Bauwens, Rando Allikmets, Evan M. Jones, Rui Chen, Elfride De Baere, Michael E. Greenberg. Epigenomic Profiling and Single-Nucleus-RNA-Seq Reveal Cis-Regulatory Elements in Human Retina, Macula and RPE and Non-Coding Genetic Variation, bioRxiv Sep 2018. doi.:10.1101/412361.
De Bruyne M, Bogaert DJ, Venken K, Van den Bossche L, Bonroy C, Roels L, Tavernier SJ, van de Vijver E, Driessen A, van Gijn M, Gámez-Diaz L, Elewaut D, Grimbacher B, Haerynck F, Moes N, Dullaers M. A novel LPS-responsive beige-like
anchor protein (LRBA) mutation presents with normal cytotoxic T lymphocyte-associated protein 4 (CTLA-4) and overactive T(H)17 immunity. J Allergy Clin Immunol. 2018 Sep 5. pii: S0091-6749(18)31270-3. doi:10.1016/j.jaci.2018.08.026. PMID: 30193839
Talib M, van Schooneveld MJ, Van Cauwenbergh C, Wijnholds J, Ten Brink JB, Florijn RJ, Schalij-Delfos NE, Dagnelie G, van Genderen MM, De Baere E, Meester-Smoor MA, De Zaeytijd J, Cremers FPM, van den Born LI, Thiadens AA, Hoyng
CB, Klaver CC, Leroy BP, Bergen AA, Boon CJF. The Spectrum of Structural and Functional Abnormalities in Female Carriers of Pathogenic Variants in the RPGR Gene. Invest Ophthalmol Vis Sci. 2018 Aug 1;59(10):4123-4133. doi:10.1167/iovs.17-23453. PMID: 30105367.
Weisschuh N, Stingl K, Audo I, Biskup S, Bocquet B, Branham K, Burstedt MS, De Baere E, De Vries MJ, Golovleva I, Green A, Heckenlively J, Leroy BP, Meunier I, Traboulsi E, Wissinger B, Kohl S. Mutations in the gene PDE6C encoding the catalytic subunit of the cone photoreceptor phosphodiesterase in patients with achromatopsia. Hum Mutat. 2018 Oct;39(10):1366-1371. doi: 10.1002/humu.23606. Epub 2018 Aug 22. PMID: 30080950.
Rosain J, Oleaga-Quintas C, Deswarte C, Verdin H, Marot S, Syridou G, Mansouri M, Mahdaviani SA, Venegas-Montoya E, Tsolia M, Mesdaghi M, Chernyshova L, Stepanovskiy Y, Parvaneh N, Mansouri D, Pedraza-Sánchez S, Bondarenko A, Espinosa-Padilla SE, Yamazaki-Nakashimada MA, Nieto-Patlán A, Kerner G, Lambert N, Jacques C, Corvilain E, Migaud M, Grandin V, Herrera MT, Jabot-Hanin F, Boisson-Dupuis S, Picard C, Nitschke P, Puel A, Tores F, Abel L, Blancas-Galicia L, De Baere E, Bole-Feysot C, Casanova JL, Bustamante J. A Variety of Alu-Mediated Copy Number Variations Can Underlie IL-12Rβ1 Deficiency. J Clin Immunol. 2018 Jul 11. doi: 10.1007/s10875-018-0527-6. [Epub ahead of print] PMID: 29995221.
Saelaert M, Mertes H, De Baere E, Devisch I. Incidental or secondary findings: an integrative and patient-inclusive approach to the current debate. Eur J Hum Genet. 2018 Oct;26(10):1424-1431. doi: 10.1038/s41431-018-0200-9. Epub 2018 Jul 3. PMID: 29970927; PMCID: PMC6138744.
2017
Baert A, Machackova E, Coene I, Cremin C, Turner K, Portigal-Todd C, Asrat MJ, Nuk J, Mindlin A, Young S, MacMillan A, Van Maerken T, Trbusek M, McKinnon W, Wood ME, Foulkes WD, Santamariña M, de la Hoya M, Foretova L, Poppe B, Vral A, Rosseel T, De Leeneer K, Vega A, Claes KBM. Thorough in silico and in vitro cDNA analysis of 21 putative BRCA1 and BRCA2 splice variants and a complex tandem duplication in BRCA2 allowing the identification of activated cryptic splice donor sites in BRCA2 exon 11. Hum Mutat. 2017 Dec 27. doi: 10.1002/humu.23390. PMID: 29280214.
Van de Sompele S, Pécheux L, Couso J, Meunier A, Sanchez M, De Baere E. Functional characterization of a novel non-coding mutation “Ghent +49A > G” in the iron-responsive element of L-ferritin causing hereditary hyperferritinaemia-cataract syndrome. Sci Rep. 2017 Dec 21;7(1):18025. doi:10.1038/s41598-017-18326-6. PMID: 29269865.
Baetens D, Guran T, Mendonca BB, Gomes NL, De Cauwer L, Peelman F, Verdin H, Vuylsteke M, Van der Linden M, ESR2 study group, Stoop H, Looijenga L, De Bosscher K, Cools M, De Baere E. Biallelic and monoallelic ESR2 variants associated with 46,XY disorders of sex development. Genet Med. 2017 Oct 26. doi:10.1038/gim.2017.163 PMID: 29261182.
Mayer AK, Van Cauwenbergh C, Rother C, Baumann B, Reuter P, De Baere E, Wissinger B, Kohl S; ACHM Study Group. CNGB3 mutation spectrum including copy number variations in 552 achromatopsia patients. Hum Mutat. 2017 Nov;38(11):1579-1591. doi: 10.1002/humu.23311. PMID: 28795510.
Bogaert DJ, Kuehn HS, Bonroy C, Calvo KR, Dehoorne J, Vanlander AV, De Bruyne M, Cytlak U, Bigley V, De Baets F, De Baere E, Rosenzweig SD, Haerynck F, Dullaers M. A novel IKAROS haploinsufficiency kindred with unexpectedly late and variable B-cell maturation defects. J Allergy Clin Immunol. 2017 Sep 18. pii: S0091-6749(17)31440-9. doi: 10.1016/j.jaci.2017.08.019. PMID: 28927821.
Lefever S, Pattyn F, De Wilde B, Coppieters F, De Keulenaer S, Hellemans J, Vandesompele J. High-throughput PCR assay design for targeted resequencing using primerXL. BMC Bioinformatics. 2017 Sep 6;18(1):400. doi: 10.1186/s12859-017-1809-3. PMID: 28877663.
Hoste L, De Baets F, Van Daele S, Schelstraete P, Boon M, De Bruyne M, Dullaers M, Coppieters F, Haerynck F. When One Rare Disease Hides Another: Kartagener Syndrome Masking FMF. Clin Pediatr (Phila). 2017 Sep 1:9922817733705. doi: 10.1177/0009922817733705. PMID: 28952366.
Van Schil K, Naessens S, Van de Sompele S, Carron M, Aslanidis A, Van Cauwenbergh C, Mayer AK, Van Heetvelde M, Bauwens M, Verdin H, Coppieters F, Greenberg ME, Yang MG, Karlstetter M, Langmann T, De Preter K, Kohl S, Cherry TJ, Leroy BP, De Baere E. Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations. Genet Med. 2017 Jul 27. doi: 10.1038/gim.2017.97. PMID: 28749477.
Bogaert DJ, Dullaers M, Kuehn HS, Leroy BP, Niemela JE, De Wilde H, De Schryver S, De Bruyne M, Coppieters F, Lambrecht BN, De Baets F, Rosenzweig SD, De Baere E, Haerynck F. Early-onset primary antibody deficiency resembling common variable immunodeficiency challenges the diagnosis of Wiedeman-Steiner and Roifman syndromes. Sci Rep. 2017 Jun 16;7(1):3702. doi: 10.1038/s41598-017-02434-4. PMID: 28623346.
Baetens D, Mendonca BB, Verdin H, Cools M, De Baere E. Non-coding variation in disorders of sex development. Clin Genet. 2017 Feb;91(2):163-172. doi: 10.1111/cge.12911. PMID: 27801941.
Van Cauwenbergh C, Van Schil K, Cannoodt R, Bauwens M, Van Laethem T, De Jaegere S, Steyaert W, Sante T, Menten B, Leroy BP, Coppieters F, De Baere E. arrEYE: a customized platform for high-resolution copy number analysis of coding and noncoding regions of known and candidate retinal dystrophy genes and retinal noncoding RNAs. Genet Med. 2017 Apr;19(4):457-466. doi: 10.1038/gim.2016.119. PMID: 27608171.
Baetens D, Stoop H, Peelman F, Todeschini AL, Rosseel T, Coppieters F, Veitia RA, Looijenga LH, De Baere E, Cools M. NR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of sex development. Genet Med. 2017 Apr;19(4):367-376. doi: 10.1038/gim.2016.118. Epub 2016 Aug 4. PMID: 27490115.
Van Cauwenbergh C, Coppieters F, Roels D, De Jaegere S, Flipts H, De Zaeytijd J, Walraedt S, Claes C, Fransen E, Van Camp G, Depasse F, Casteels I, de Ravel T, Leroy BP, De Baere E. Mutations in Splicing Factor Genes Are a Major Cause of Autosomal Dominant Retinitis Pigmentosa in Belgian Families. PLoS One. 2017 Jan 11;12(1):e0170038. doi: 10.1371/journal.pone.0170038. PMID: 28076437.
Bogaert DJ, De Bruyne M, Debacker V, Depuydt P, De Preter K, Bonroy C, Philippé J, Bordon V, Lambrecht BN, Kerre T, Cerutti A, Vermaelen KY, Haerynck F, Dullaers M. The immunophenotypic fingerprint of patients with primary antibody deficiencies is partially present in their asymptomatic first-degree relatives. Haematologica. 2017 Jan;102(1):192-202. doi: 10.3324/haematol.2016.149112. PMID: 27634199.
Van de Sompele S, Pécheux L, Couso J, Meunier A, Sanchez M, De Baere E. Functional characterization of a novel non-coding mutation “Ghent +49A > G” in the iron-responsive element of L-ferritin causing hereditary hyperferritinaemia-cataract syndrome. Sci Rep. 2017 Dec 21;7(1):18025. doi:10.1038/s41598-017-18326-6. PMID: 29269865.
Baetens D, Guran T, Mendonca BB, Gomes NL, De Cauwer L, Peelman F, Verdin H, Vuylsteke M, Van der Linden M, ESR2 study group, Stoop H, Looijenga L, De Bosscher K, Cools M, De Baere E. Biallelic and monoallelic ESR2 variants associated with 46,XY disorders of sex development. Genet Med. 2017 Oct 26. doi:10.1038/gim.2017.163 PMID: 29261182.
Mayer AK, Van Cauwenbergh C, Rother C, Baumann B, Reuter P, De Baere E, Wissinger B, Kohl S; ACHM Study Group. CNGB3 mutation spectrum including copy number variations in 552 achromatopsia patients. Hum Mutat. 2017 Nov;38(11):1579-1591. doi: 10.1002/humu.23311. PMID: 28795510.
Bogaert DJ, Kuehn HS, Bonroy C, Calvo KR, Dehoorne J, Vanlander AV, De Bruyne M, Cytlak U, Bigley V, De Baets F, De Baere E, Rosenzweig SD, Haerynck F, Dullaers M. A novel IKAROS haploinsufficiency kindred with unexpectedly late and variable B-cell maturation defects. J Allergy Clin Immunol. 2017 Sep 18. pii: S0091-6749(17)31440-9. doi: 10.1016/j.jaci.2017.08.019. PMID: 28927821.
Lefever S, Pattyn F, De Wilde B, Coppieters F, De Keulenaer S, Hellemans J, Vandesompele J. High-throughput PCR assay design for targeted resequencing using primerXL. BMC Bioinformatics. 2017 Sep 6;18(1):400. doi: 10.1186/s12859-017-1809-3. PMID: 28877663.
Hoste L, De Baets F, Van Daele S, Schelstraete P, Boon M, De Bruyne M, Dullaers M, Coppieters F, Haerynck F. When One Rare Disease Hides Another: Kartagener Syndrome Masking FMF. Clin Pediatr (Phila). 2017 Sep 1:9922817733705. doi: 10.1177/0009922817733705. PMID: 28952366.
Van Schil K, Naessens S, Van de Sompele S, Carron M, Aslanidis A, Van Cauwenbergh C, Mayer AK, Van Heetvelde M, Bauwens M, Verdin H, Coppieters F, Greenberg ME, Yang MG, Karlstetter M, Langmann T, De Preter K, Kohl S, Cherry TJ, Leroy BP, De Baere E. Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations. Genet Med. 2017 Jul 27. doi: 10.1038/gim.2017.97. PMID: 28749477.
Bogaert DJ, Dullaers M, Kuehn HS, Leroy BP, Niemela JE, De Wilde H, De Schryver S, De Bruyne M, Coppieters F, Lambrecht BN, De Baets F, Rosenzweig SD, De Baere E, Haerynck F. Early-onset primary antibody deficiency resembling common variable immunodeficiency challenges the diagnosis of Wiedeman-Steiner and Roifman syndromes. Sci Rep. 2017 Jun 16;7(1):3702. doi: 10.1038/s41598-017-02434-4. PMID: 28623346.
Baetens D, Mendonca BB, Verdin H, Cools M, De Baere E. Non-coding variation in disorders of sex development. Clin Genet. 2017 Feb;91(2):163-172. doi: 10.1111/cge.12911. PMID: 27801941.
Van Cauwenbergh C, Van Schil K, Cannoodt R, Bauwens M, Van Laethem T, De Jaegere S, Steyaert W, Sante T, Menten B, Leroy BP, Coppieters F, De Baere E. arrEYE: a customized platform for high-resolution copy number analysis of coding and noncoding regions of known and candidate retinal dystrophy genes and retinal noncoding RNAs. Genet Med. 2017 Apr;19(4):457-466. doi: 10.1038/gim.2016.119. PMID: 27608171.
Baetens D, Stoop H, Peelman F, Todeschini AL, Rosseel T, Coppieters F, Veitia RA, Looijenga LH, De Baere E, Cools M. NR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of sex development. Genet Med. 2017 Apr;19(4):367-376. doi: 10.1038/gim.2016.118. Epub 2016 Aug 4. PMID: 27490115.
Van Cauwenbergh C, Coppieters F, Roels D, De Jaegere S, Flipts H, De Zaeytijd J, Walraedt S, Claes C, Fransen E, Van Camp G, Depasse F, Casteels I, de Ravel T, Leroy BP, De Baere E. Mutations in Splicing Factor Genes Are a Major Cause of Autosomal Dominant Retinitis Pigmentosa in Belgian Families. PLoS One. 2017 Jan 11;12(1):e0170038. doi: 10.1371/journal.pone.0170038. PMID: 28076437.
Bogaert DJ, De Bruyne M, Debacker V, Depuydt P, De Preter K, Bonroy C, Philippé J, Bordon V, Lambrecht BN, Kerre T, Cerutti A, Vermaelen KY, Haerynck F, Dullaers M. The immunophenotypic fingerprint of patients with primary antibody deficiencies is partially present in their asymptomatic first-degree relatives. Haematologica. 2017 Jan;102(1):192-202. doi: 10.3324/haematol.2016.149112. PMID: 27634199.
2016
Van Gorp H, Saavedra PH, de Vasconcelos NM, Van Opdenbosch N, Vande Walle L, Matusiak M, Prencipe G, Insalaco A, Van Hauwermeiren F, Demon D, Bogaert DJ, Dullaers M, De Baere E, Hochepied T, Dehoorne J, Vermaelen KY, Haerynck F, De Benedetti F, Lamkanfi M. Familial Mediterranean fever mutations lift the obligatory requirement for microtubules in Pyrin inflammasome activation. Proc Natl Acad Sci U S A. 2016 Dec 13;113(50):14384-14389. PMID: 27911804.
Bogaert DJ, Dullaers M, Lambrecht BN, Vermaelen KY, De Baere E, Haerynck F. Genes associated with common variable immunodeficiency: one diagnosis to rule them all? J Med Genet. 2016 Sep;53(9):575-90. doi: 10.1136/jmedgenet-2015-103690. Review. PMID: 27250108.
Van Schil K, Karlstetter M, Aslanidis A, Dannhausen K, Azam M, Qamar R, Leroy BP, Depasse F, Langmann T, De Baere E. Autosomal recessive retinitis pigmentosa with homozygous rhodopsin mutation E150K and non-coding cis-regulatory variants in CRX-binding regions of SAMD7. Sci Rep. 2016 Feb 18;6:21307. doi: 10.1038/srep21307. PMID: 26887858.
Coppieters F, Ascari G, Dannhausen K, Nikopoulos K, Peelman F, Karlstetter M, Xu M, Brachet C, Meunier I, Tsilimbaris MK, Tsika C, Blazaki SV, Vergult S, Farinelli P, Van Laethem T, Bauwens M, De Bruyne M, Chen R, Langmann T, Sui R, Meire F, Rivolta C, Hamel CP, Leroy BP, De Baere E. Isolated and Syndromic Retinal Dystrophy Caused by Biallelic Mutations in RCBTB1, a Gene Implicated in Ubiquitination. Am J Hum Genet. 2016 Aug 4;99(2):470-80. doi: 10.1016/j.ajhg.2016.06.017. PMID: 27486781.
Buena-Atienza E, Rüther K, Baumann B, Bergholz R, Birch D, De Baere E, Dollfus H, Greally MT, Gustavsson P, Hamel CP, Heckenlively JR, Leroy BP, Plomp AS, Pott JW, Rose K, Rosenberg T, Stark Z, Verheij JB, Weleber R, Zobor D, Weisschuh N, Kohl S, Wissinger B. De novo intrachromosomal gene conversion from OPN1MW to OPN1LW in the male germline results in Blue Cone Monochromacy. Sci Rep. 2016 Jun 24;6:28253. doi: 10.1038/srep28253. PMID: 27339364.
Sangermano R, Bax NM, Bauwens M, van den Born LI, De Baere E, Garanto A, Collin RW, Goercharn-Ramlal AS, den Engelsman-van Dijk AH, Rohrschneider K, Hoyng CB, Cremers FP, Albert S. Photoreceptor Progenitor mRNA Analysis Reveals Exon Skipping Resulting from the ABCA4 c.5461-10T→C Mutation in Stargardt Disease. Ophthalmology. 2016 Jun;123(6):1375-85. doi: 10.1016/j.ophtha.2016.01.053. PMID: 26976702.
McEntagart M, Williamson KA, Rainger JK, Wheeler A, Seawright A, De Baere E, Verdin H, Bergendahl LT, Quigley A, Rainger J, Dixit A, Sarkar A, López Laso E, Sanchez-Carpintero R, Barrio J, Bitoun P, Prescott T, Riise R, McKee S, Cook J, McKie L, Ceulemans B, Meire F, Temple IK, Prieur F, Williams J, Clouston P, Németh AH, Banka S, Bengani H, Handley M, Freyer E, Ross A; DDD Study, van Heyningen V, Marsh JA, Elmslie F, FitzPatrick DR. A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect. Am J Hum Genet. 2016 May 5;98(5):981-992. doi: 10.1016/j.ajhg.2016.03.018. PMID: 27108798.
Szafranski P, Gambin T, Dharmadhikari AV, Akdemir KC, Jhangiani SN, Schuette J, Godiwala N, Yatsenko SA, Sebastian J, Madan-Khetarpal S, Surti U, Abellar RG, Bateman DA, Wilson AL, Markham MH, Slamon J, Santos-Simarro F, Palomares M, Nevado J, Lapunzina P, Chung BH, Wong WL, Chu YW, Mok GT, Kerem E, Reiter J, Ambalavanan N, Anderson SA, Kelly DR, Shieh J, Rosenthal TC, Scheible K, Steiner L, Iqbal MA, McKinnon ML, Hamilton SJ, Schlade-Bartusiak K, English D, Hendson G, Roeder ER, DeNapoli TS, Littlejohn RO, Wolff DJ, Wagner CL, Yeung A, Francis D, Fiorino EK, Edelman M, Fox J, Hayes DA, Janssens S, De Baere E, Menten B, Loccufier A, Vanwalleghem L, Moerman P, Sznajer Y, Lay AS, Kussmann JL, Chawla J, Payton DJ, Phillips GE, Brosens E, Tibboel D, de Klein A, Maystadt I, Fisher R, Sebire N, Male A, Chopra M, Pinner J, Malcolm G, Peters G, Arbuckle S, Lees M, Mead Z, Quarrell O, Sayers R, Owens M, Shaw-Smith C, Lioy J, McKay E, de Leeuw N, Feenstra I, Spruijt L, Elmslie F, Thiruchelvam T, Bacino CA, Langston C, Lupski JR, Sen P, Popek E, Stankiewicz P. Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins. Hum Genet. 2016 May;135(5):569-86. doi: 10.1007/s00439-016-1655-9. PMID: 27071622.
Pierrache LH, Hartel BP, van Wijk E, Meester-Smoor MA, Cremers FP, De Baere E, de Zaeytijd J, van Schooneveld MJ, Cremers CW, Dagnelie G, Hoyng CB, Bergen AA, Leroy BP, Pennings RJ, van den Born LI, Klaver CC. Visual Prognosis in USH2A-Associated Retinitis Pigmentosa Is Worse for Patients with Usher Syndrome Type IIa Than for Those with Nonsyndromic Retinitis Pigmentosa. Ophthalmology. 2016 May;123(5):1151-60. doi: 10.1016/j.ophtha.2016.01.021. PMID: 26927203.
Saksens NT, Krebs MP, Schoenmaker-Koller FE, Hicks W, Yu M, Shi L, Rowe L, Collin GB, Charette JR, Letteboer SJ, Neveling K, van Moorsel TW, Abu-Ltaif S, De Baere E, Walraedt S, Banfi S, Simonelli F, Cremers FP, Boon CJ, Roepman R, Leroy BP, Peachey NS, Hoyng CB, Nishina PM, den Hollander AI. Mutations in CTNNA1 cause butterfly-shaped pigment dystrophy and perturbed retinal pigment epithelium integrity. Nat Genet. 2016 Feb;48(2):144-51. doi: 10.1038/ng.3474. PMID: 26691986.
Bogaert D, Van Schil K, Taghon T, Bordon V, Bonroy C, Dullaers M, De Baere E, Haerynck F. Persistent rotavirus diarrhea post-transplant in a novel JAK3-SCID patient after vaccination. Pediatr Allergy Immunol. 2016 Feb;27(1):93-6. doi: 10.1111/pai.12455. Epub 2015 Oct 1. PMID: 26248889.
Bogaert DJ, Dullaers M, Lambrecht BN, Vermaelen KY, De Baere E, Haerynck F. Genes associated with common variable immunodeficiency: one diagnosis to rule them all? J Med Genet. 2016 Sep;53(9):575-90. doi: 10.1136/jmedgenet-2015-103690. Review. PMID: 27250108.
Van Schil K, Karlstetter M, Aslanidis A, Dannhausen K, Azam M, Qamar R, Leroy BP, Depasse F, Langmann T, De Baere E. Autosomal recessive retinitis pigmentosa with homozygous rhodopsin mutation E150K and non-coding cis-regulatory variants in CRX-binding regions of SAMD7. Sci Rep. 2016 Feb 18;6:21307. doi: 10.1038/srep21307. PMID: 26887858.
Coppieters F, Ascari G, Dannhausen K, Nikopoulos K, Peelman F, Karlstetter M, Xu M, Brachet C, Meunier I, Tsilimbaris MK, Tsika C, Blazaki SV, Vergult S, Farinelli P, Van Laethem T, Bauwens M, De Bruyne M, Chen R, Langmann T, Sui R, Meire F, Rivolta C, Hamel CP, Leroy BP, De Baere E. Isolated and Syndromic Retinal Dystrophy Caused by Biallelic Mutations in RCBTB1, a Gene Implicated in Ubiquitination. Am J Hum Genet. 2016 Aug 4;99(2):470-80. doi: 10.1016/j.ajhg.2016.06.017. PMID: 27486781.
Buena-Atienza E, Rüther K, Baumann B, Bergholz R, Birch D, De Baere E, Dollfus H, Greally MT, Gustavsson P, Hamel CP, Heckenlively JR, Leroy BP, Plomp AS, Pott JW, Rose K, Rosenberg T, Stark Z, Verheij JB, Weleber R, Zobor D, Weisschuh N, Kohl S, Wissinger B. De novo intrachromosomal gene conversion from OPN1MW to OPN1LW in the male germline results in Blue Cone Monochromacy. Sci Rep. 2016 Jun 24;6:28253. doi: 10.1038/srep28253. PMID: 27339364.
Sangermano R, Bax NM, Bauwens M, van den Born LI, De Baere E, Garanto A, Collin RW, Goercharn-Ramlal AS, den Engelsman-van Dijk AH, Rohrschneider K, Hoyng CB, Cremers FP, Albert S. Photoreceptor Progenitor mRNA Analysis Reveals Exon Skipping Resulting from the ABCA4 c.5461-10T→C Mutation in Stargardt Disease. Ophthalmology. 2016 Jun;123(6):1375-85. doi: 10.1016/j.ophtha.2016.01.053. PMID: 26976702.
McEntagart M, Williamson KA, Rainger JK, Wheeler A, Seawright A, De Baere E, Verdin H, Bergendahl LT, Quigley A, Rainger J, Dixit A, Sarkar A, López Laso E, Sanchez-Carpintero R, Barrio J, Bitoun P, Prescott T, Riise R, McKee S, Cook J, McKie L, Ceulemans B, Meire F, Temple IK, Prieur F, Williams J, Clouston P, Németh AH, Banka S, Bengani H, Handley M, Freyer E, Ross A; DDD Study, van Heyningen V, Marsh JA, Elmslie F, FitzPatrick DR. A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect. Am J Hum Genet. 2016 May 5;98(5):981-992. doi: 10.1016/j.ajhg.2016.03.018. PMID: 27108798.
Szafranski P, Gambin T, Dharmadhikari AV, Akdemir KC, Jhangiani SN, Schuette J, Godiwala N, Yatsenko SA, Sebastian J, Madan-Khetarpal S, Surti U, Abellar RG, Bateman DA, Wilson AL, Markham MH, Slamon J, Santos-Simarro F, Palomares M, Nevado J, Lapunzina P, Chung BH, Wong WL, Chu YW, Mok GT, Kerem E, Reiter J, Ambalavanan N, Anderson SA, Kelly DR, Shieh J, Rosenthal TC, Scheible K, Steiner L, Iqbal MA, McKinnon ML, Hamilton SJ, Schlade-Bartusiak K, English D, Hendson G, Roeder ER, DeNapoli TS, Littlejohn RO, Wolff DJ, Wagner CL, Yeung A, Francis D, Fiorino EK, Edelman M, Fox J, Hayes DA, Janssens S, De Baere E, Menten B, Loccufier A, Vanwalleghem L, Moerman P, Sznajer Y, Lay AS, Kussmann JL, Chawla J, Payton DJ, Phillips GE, Brosens E, Tibboel D, de Klein A, Maystadt I, Fisher R, Sebire N, Male A, Chopra M, Pinner J, Malcolm G, Peters G, Arbuckle S, Lees M, Mead Z, Quarrell O, Sayers R, Owens M, Shaw-Smith C, Lioy J, McKay E, de Leeuw N, Feenstra I, Spruijt L, Elmslie F, Thiruchelvam T, Bacino CA, Langston C, Lupski JR, Sen P, Popek E, Stankiewicz P. Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins. Hum Genet. 2016 May;135(5):569-86. doi: 10.1007/s00439-016-1655-9. PMID: 27071622.
Pierrache LH, Hartel BP, van Wijk E, Meester-Smoor MA, Cremers FP, De Baere E, de Zaeytijd J, van Schooneveld MJ, Cremers CW, Dagnelie G, Hoyng CB, Bergen AA, Leroy BP, Pennings RJ, van den Born LI, Klaver CC. Visual Prognosis in USH2A-Associated Retinitis Pigmentosa Is Worse for Patients with Usher Syndrome Type IIa Than for Those with Nonsyndromic Retinitis Pigmentosa. Ophthalmology. 2016 May;123(5):1151-60. doi: 10.1016/j.ophtha.2016.01.021. PMID: 26927203.
Saksens NT, Krebs MP, Schoenmaker-Koller FE, Hicks W, Yu M, Shi L, Rowe L, Collin GB, Charette JR, Letteboer SJ, Neveling K, van Moorsel TW, Abu-Ltaif S, De Baere E, Walraedt S, Banfi S, Simonelli F, Cremers FP, Boon CJ, Roepman R, Leroy BP, Peachey NS, Hoyng CB, Nishina PM, den Hollander AI. Mutations in CTNNA1 cause butterfly-shaped pigment dystrophy and perturbed retinal pigment epithelium integrity. Nat Genet. 2016 Feb;48(2):144-51. doi: 10.1038/ng.3474. PMID: 26691986.
Bogaert D, Van Schil K, Taghon T, Bordon V, Bonroy C, Dullaers M, De Baere E, Haerynck F. Persistent rotavirus diarrhea post-transplant in a novel JAK3-SCID patient after vaccination. Pediatr Allergy Immunol. 2016 Feb;27(1):93-6. doi: 10.1111/pai.12455. Epub 2015 Oct 1. PMID: 26248889.
2015
Sergouniotis PI, McKibbin M, Robson AG, Bolz HJ, De Baere E, Müller PL, Heller R, El-Asrag ME, Van Schil K, Plagnol V, Toomes C; Uk Inherited Retinal Disease Consortium, Ali M, Holder GE, Charbel Issa P, Leroy BP, Inglehearn CF, Webster AR. Disease Expression in Autosomal Recessive Retinal Dystrophy Associated With Mutations in the DRAM2 Gene. Invest Ophthalmol Vis Sci. 2015 Dec;56(13):8083-90. doi: 10.1167/iovs.15-17604. PMID: 26720460.
Cools M, Goemaere S, Baetens D, Raes A, Desloovere A, Kaufman JM, De Schepper J, Jans I, Vanderschueren D, Billen J, De Baere E, Fiers T, Bouillon R. Calcium and bone homeostasis in heterozygous carriers of CYP24A1 mutations: A cross-sectional study. Bone. 2015 Dec;81:89-96. doi: 10.1016/j.bone.2015.06.018. PMID: 26117226.
Verdin H, Fernández-Miñán A, Benito-Sanz S, Janssens S, Callewaert B, De Waele K, De Schepper J, François I, Menten B, Heath KE, Gómez-Skarmeta JL, De Baere E. Profiling of conserved non-coding elements upstream of SHOX and functional characterisation of the SHOX cis-regulatory landscape. Sci Rep. 2015 Dec 3;5:17667. doi: 10.1038/srep17667. PMID: 26631348.
Coppieters F, Todeschini AL, Fujimaki T, Baert A, De Bruyne M, Van Cauwenbergh C, Verdin H, Bauwens M, Ongenaert M, Kondo M, Meire F, Murakami A, Veitia RA, Leroy BP, De Baere E. Hidden Genetic Variation in LCA9-Associated Congenital Blindness Explained by 5'UTR Mutations and Copy-Number Variations of NMNAT1. Hum Mutat. 2015 Dec;36(12):1188-96. doi: 10.1002/humu.22899. PMID: 26316326.
Van Schil K, Klevering BJ, Leroy BP, Pott JW, Bandah-Rozenfeld D, Zonneveld-Vrieling MN, Sharon D, den Hollander AI, Cremers FP, De Baere E, Collin RW, van den Born LI. A Nonsense Mutation in FAM161A Is a Recurrent Founder Allele in Dutch and Belgian Individuals With Autosomal Recessive Retinitis Pigmentosa. Invest Ophthalmol Vis Sci. 2015 Nov;56(12):7418-26. doi: 10.1167/iovs.15-17920. PMID: 26574802.
Coppieters F, Verniers K, De Leeneer K, Vandesompele J, Lefever S. Targeted resequencing and variant validation using pxlence PCR assays. Biomol Detect Quantif. 2015 Oct 9;6:22-6. doi: 10.1016/j.bdq.2015.09.001. PMID: 27077044.
Vandenbroucke T, Buyl R, De Zaeytijd J, Bauwens M, Uvijls A, De Baere E, Leroy BP. Colour Vision in Stargardt Disease. Ophthalmic Res. 2015;54(4):181-94. doi: 10.1159/000438906. PMID: 26492201.
Sajevets T, Verroken C, Heylens G, De Baere E, T'Sjoen G. Mother and daughter became father and son: a case report. Asian J Androl. 2015 Sep-Oct;17(5):855-6. doi: 10.4103/1008-682X.145430. PMID: 25652622.
El-Asrag ME, Sergouniotis PI, McKibbin M, Plagnol V, Sheridan E, Waseem N, Abdelhamed Z, McKeefry D, Van Schil K, Poulter JA; UK Inherited Retinal Disease Consortium, Johnson CA, Carr IM, Leroy BP, De Baere E, Inglehearn CF, Webster AR, Toomes C, Ali M. Biallelic mutations in the autophagy regulator DRAM2 cause retinal dystrophy with early macular involvement. Am J Hum Genet. 2015 Jun 4;96(6):948-54. doi: 10.1016/j.ajhg.2015.04.006. PMID: 25983245.
Fares-Taie L, Gerber S, Tawara A, Ramirez-Miranda A, Douet JY, Verdin H, Guilloux A, Zenteno JC, Kondo H, Moisset H, Passet B, Yamamoto K, Iwai M, Tanaka T, Nakamura Y, Kimura W, Bole-Feysot C, Vilotte M, Odent S, Vilotte JL, Munnich A, Regnier A, Chassaing N, De Baere E, Raymond-Letron I, Kaplan J, Calvas P, Roche O, Rozet JM. Submicroscopic deletions at 13q32.1 cause congenital microcoria. Am J Hum Genet. 2015 Apr 2;96(4):631-9. doi: 10.1016/j.ajhg.2015.01.014. PMID: 25772937.
Van Schil K, Meire F, Karlstetter M, Bauwens M, Verdin H, Coppieters F, Scheiffert E, Van Nechel C, Langmann T, Deconinck N, De Baere E. Early-onset autosomal recessive cerebellar ataxia associated with retinal dystrophy: new human hotfoot phenotype caused by homozygous GRID2 deletion. Genet Med. 2015 Apr;17(4):291-9. doi: 10.1038/gim.2014.95. PMID: 25122145.
De Leeneer K, Hellemans J, Steyaert W, Lefever S, Vereecke I, Debals E, Crombez B, Baetens M, Van Heetvelde M, Coppieters F, Vandesompele J, De Jaegher A, De Baere E, Coucke P, Claes K. Flexible, scalable, and efficient targeted resequencing on a benchtop sequencer for variant detection in clinical practice. Hum Mutat. 2015 Mar;36(3):379-87. doi: 10.1002/humu.22739. PMID: 25504618.
AlMoallem B, Bauwens M, Walraedt S, Delbeke P, De Zaeytijd J, Kestelyn P, Meire F, Janssens S, Van Cauwenbergh C, Verdin H, Hooghe S, Kumar Thakur P, Coppieters F, De Leeneer K, Devriendt K, Leroy BP, De Baere E. Novel FRMD7 Mutations and Genomic Rearrangement Expand the Molecular Pathogenesis of X-Linked Idiopathic Infantile Nystagmus. Invest Ophthalmol Vis Sci. 2015 Feb 12;56(3):1701-10. doi: 10.1167/iovs.14-15938. PMID: 25678693.
Verdin H, De Baere E. Blepharophimosis, Ptosis, and Epicanthus Inversus. 2004 Jul 8 [updated 2015 Feb 5]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Mefford HC, Stephens K, Amemiya A, Ledbetter N, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017. Available from http://www.ncbi.nlm.nih.gov/books/NBK1441/ PMID: 20301614.
Astuti GD, Sun V, Bauwens M, Zobor D, Leroy BP, Omar A, Jurklies B, Lopez I, Ren H, Yazar V, Hamel C, Kellner U, Wissinger B, Kohl S, De Baere E, Collin RW, Koenekoop RK. Novel insights into the molecular pathogenesis of CYP4V2-associated Bietti's retinal dystrophy. Mol Genet Genomic Med. 2015 Jan;3(1):14-29. doi: 10.1002/mgg3.109. PMID: 25629076.
Bauwens M, De Zaeytijd J, Weisschuh N, Kohl S, Meire F, Dahan K, Depasse F, De Jaegere S, De Ravel T, De Rademaeker M, Loeys B, Coppieters F, Leroy BP, De Baere E. An augmented ABCA4 screen targeting noncoding regions reveals a deep intronic founder variant in Belgian Stargardt patients. Hum Mutat. 2015 Jan;36(1):39-42. doi: 10.1002/humu.22716. PMID: 25346251.
Cools M, Goemaere S, Baetens D, Raes A, Desloovere A, Kaufman JM, De Schepper J, Jans I, Vanderschueren D, Billen J, De Baere E, Fiers T, Bouillon R. Calcium and bone homeostasis in heterozygous carriers of CYP24A1 mutations: A cross-sectional study. Bone. 2015 Dec;81:89-96. doi: 10.1016/j.bone.2015.06.018. PMID: 26117226.
Verdin H, Fernández-Miñán A, Benito-Sanz S, Janssens S, Callewaert B, De Waele K, De Schepper J, François I, Menten B, Heath KE, Gómez-Skarmeta JL, De Baere E. Profiling of conserved non-coding elements upstream of SHOX and functional characterisation of the SHOX cis-regulatory landscape. Sci Rep. 2015 Dec 3;5:17667. doi: 10.1038/srep17667. PMID: 26631348.
Coppieters F, Todeschini AL, Fujimaki T, Baert A, De Bruyne M, Van Cauwenbergh C, Verdin H, Bauwens M, Ongenaert M, Kondo M, Meire F, Murakami A, Veitia RA, Leroy BP, De Baere E. Hidden Genetic Variation in LCA9-Associated Congenital Blindness Explained by 5'UTR Mutations and Copy-Number Variations of NMNAT1. Hum Mutat. 2015 Dec;36(12):1188-96. doi: 10.1002/humu.22899. PMID: 26316326.
Van Schil K, Klevering BJ, Leroy BP, Pott JW, Bandah-Rozenfeld D, Zonneveld-Vrieling MN, Sharon D, den Hollander AI, Cremers FP, De Baere E, Collin RW, van den Born LI. A Nonsense Mutation in FAM161A Is a Recurrent Founder Allele in Dutch and Belgian Individuals With Autosomal Recessive Retinitis Pigmentosa. Invest Ophthalmol Vis Sci. 2015 Nov;56(12):7418-26. doi: 10.1167/iovs.15-17920. PMID: 26574802.
Coppieters F, Verniers K, De Leeneer K, Vandesompele J, Lefever S. Targeted resequencing and variant validation using pxlence PCR assays. Biomol Detect Quantif. 2015 Oct 9;6:22-6. doi: 10.1016/j.bdq.2015.09.001. PMID: 27077044.
Vandenbroucke T, Buyl R, De Zaeytijd J, Bauwens M, Uvijls A, De Baere E, Leroy BP. Colour Vision in Stargardt Disease. Ophthalmic Res. 2015;54(4):181-94. doi: 10.1159/000438906. PMID: 26492201.
Sajevets T, Verroken C, Heylens G, De Baere E, T'Sjoen G. Mother and daughter became father and son: a case report. Asian J Androl. 2015 Sep-Oct;17(5):855-6. doi: 10.4103/1008-682X.145430. PMID: 25652622.
El-Asrag ME, Sergouniotis PI, McKibbin M, Plagnol V, Sheridan E, Waseem N, Abdelhamed Z, McKeefry D, Van Schil K, Poulter JA; UK Inherited Retinal Disease Consortium, Johnson CA, Carr IM, Leroy BP, De Baere E, Inglehearn CF, Webster AR, Toomes C, Ali M. Biallelic mutations in the autophagy regulator DRAM2 cause retinal dystrophy with early macular involvement. Am J Hum Genet. 2015 Jun 4;96(6):948-54. doi: 10.1016/j.ajhg.2015.04.006. PMID: 25983245.
Fares-Taie L, Gerber S, Tawara A, Ramirez-Miranda A, Douet JY, Verdin H, Guilloux A, Zenteno JC, Kondo H, Moisset H, Passet B, Yamamoto K, Iwai M, Tanaka T, Nakamura Y, Kimura W, Bole-Feysot C, Vilotte M, Odent S, Vilotte JL, Munnich A, Regnier A, Chassaing N, De Baere E, Raymond-Letron I, Kaplan J, Calvas P, Roche O, Rozet JM. Submicroscopic deletions at 13q32.1 cause congenital microcoria. Am J Hum Genet. 2015 Apr 2;96(4):631-9. doi: 10.1016/j.ajhg.2015.01.014. PMID: 25772937.
Van Schil K, Meire F, Karlstetter M, Bauwens M, Verdin H, Coppieters F, Scheiffert E, Van Nechel C, Langmann T, Deconinck N, De Baere E. Early-onset autosomal recessive cerebellar ataxia associated with retinal dystrophy: new human hotfoot phenotype caused by homozygous GRID2 deletion. Genet Med. 2015 Apr;17(4):291-9. doi: 10.1038/gim.2014.95. PMID: 25122145.
De Leeneer K, Hellemans J, Steyaert W, Lefever S, Vereecke I, Debals E, Crombez B, Baetens M, Van Heetvelde M, Coppieters F, Vandesompele J, De Jaegher A, De Baere E, Coucke P, Claes K. Flexible, scalable, and efficient targeted resequencing on a benchtop sequencer for variant detection in clinical practice. Hum Mutat. 2015 Mar;36(3):379-87. doi: 10.1002/humu.22739. PMID: 25504618.
AlMoallem B, Bauwens M, Walraedt S, Delbeke P, De Zaeytijd J, Kestelyn P, Meire F, Janssens S, Van Cauwenbergh C, Verdin H, Hooghe S, Kumar Thakur P, Coppieters F, De Leeneer K, Devriendt K, Leroy BP, De Baere E. Novel FRMD7 Mutations and Genomic Rearrangement Expand the Molecular Pathogenesis of X-Linked Idiopathic Infantile Nystagmus. Invest Ophthalmol Vis Sci. 2015 Feb 12;56(3):1701-10. doi: 10.1167/iovs.14-15938. PMID: 25678693.
Verdin H, De Baere E. Blepharophimosis, Ptosis, and Epicanthus Inversus. 2004 Jul 8 [updated 2015 Feb 5]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Mefford HC, Stephens K, Amemiya A, Ledbetter N, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017. Available from http://www.ncbi.nlm.nih.gov/books/NBK1441/ PMID: 20301614.
Astuti GD, Sun V, Bauwens M, Zobor D, Leroy BP, Omar A, Jurklies B, Lopez I, Ren H, Yazar V, Hamel C, Kellner U, Wissinger B, Kohl S, De Baere E, Collin RW, Koenekoop RK. Novel insights into the molecular pathogenesis of CYP4V2-associated Bietti's retinal dystrophy. Mol Genet Genomic Med. 2015 Jan;3(1):14-29. doi: 10.1002/mgg3.109. PMID: 25629076.
Bauwens M, De Zaeytijd J, Weisschuh N, Kohl S, Meire F, Dahan K, Depasse F, De Jaegere S, De Ravel T, De Rademaeker M, Loeys B, Coppieters F, Leroy BP, De Baere E. An augmented ABCA4 screen targeting noncoding regions reveals a deep intronic founder variant in Belgian Stargardt patients. Hum Mutat. 2015 Jan;36(1):39-42. doi: 10.1002/humu.22716. PMID: 25346251.
2014 and earlier
Baetens D, Mladenov W, Delle Chiaie B, Menten B, Desloovere A, Iotova V, Callewaert B, Van Laecke E, Hoebeke P, De Baere E, Cools M. Extensive clinical, hormonal and genetic screening in a large consecutive series of 46,XY neonates and infants with atypical sexual development. Orphanet J Rare Dis. 2014 Dec 14;9:209. doi: 10.1186/s13023-014-0209-2. PMID: 25497574.
Fieremans N, Bauters M, Belet S, Verbeeck J, Jansen AC, Seneca S, Roelens F, De Baere E, Marynen P, Froyen G. De novo MECP2 duplications in two females with intellectual disability and unfavorable complete skewed X-inactivation. Hum Genet. 2014 Nov;133(11):1359-67. doi: 10.1007/s00439-014-1469-6. PMID: 25037250.
Gulati R, Verdin H, Halanaik D, Bhat BV, De Baere E. Co-occurrence of congenital hydronephrosis and FOXL2-associated blepharophimosis, ptosis, epicanthus inversus syndrome (BPES). Eur J Med Genet. 2014 Oct;57(10):576-8. doi: 10.1016/j.ejmg.2014.08.004. PMID: 25192944.
De Baere E. Heterozygous coding ZNF469 variants enriched in New Zealand patients with isolated keratoconus. Invest Ophthalmol Vis Sci. 2014 Sep 8;55(9):5636. doi: 10.1167/iovs.14-15486. PMID: 25201924.
Coppieters F, Van Schil K, Bauwens M, Verdin H, De Jaegher A, Syx D, Sante T, Lefever S, Abdelmoula NB, Depasse F, Casteels I, de Ravel T, Meire F, Leroy BP, De Baere E. Identity-by-descent-guided mutation analysis and exome sequencing in consanguineous families reveals unusual clinical and molecular findings in retinal dystrophy. Genet Med. 2014 Sep;16(9):671-80. doi: 10.1038/gim.2014.24. PMID: 24625443.
Brosens E, de Jong EM, Barakat TS, Eussen BH, D’haene B, De Baere E, Verdin H, Poddighe PJ, Galjaard RJ, Gribnau J, Brooks AS, Tibboel D, de Klein A. Structural and numerical changes of chromosome X in patients with esophageal atresia. Eur J Hum Genet. 2014 Sep;22(9):1077-84. doi: 10.1038/ejhg.2013.295. PMID: 24398799.
De Baere E. Deciphering the cis-regulatory landscape of SOX9 implicated in craniofacial development and isolated Pierre Robin sequence. Hum Mutat. 2014 Aug;35(8):v. doi: 10.1002/humu.22411. PMID: 25043979.
Ajmal M, Khan MI, Neveling K, Khan YM, Azam M, Waheed NK, Hamel CP, Ben-Yosef T, De Baere E, Koenekoop RK, Collin RW, Qamar R, Cremers FP. A missense mutation in the splicing factor gene DHX38 is associated with early-onset retinitis pigmentosa with macular coloboma. J Med Genet. 2014 Jul;51(7):444-8. doi: 10.1136/jmedgenet-2014-102316. PMID: 24737827.
Verdin H, Sorokina EA, Meire F, Casteels I, de Ravel T, Semina EV, De Baere E. Novel and recurrent PITX3 mutations in Belgian families with autosomal dominant congenital cataract and anterior segment dysgenesis have similar phenotypic and functional characteristics. Orphanet J Rare Dis. 2014 Feb 20;9:26. doi: 10.1186/1750-1172-9-26. PMID: 24555714.
Schauwvlieghe PP, Torre KD, Coppieters F, Van Hoey A, De Baere E, De Zaeytijd J, Leroy BP, Brodie SE. High-resolution optical coherence tomography, autofluorescence, and infrared reflectance imaging in Sjögren reticular dystrophy. Retina. 2013 Nov-Dec;33(10):2118-25. doi: 10.1097/IAE.0b013e3182899274. PMID: 23619632.
Mackay DS, Borman AD, Sui R, van den Born LI, Berson EL, Ocaka LA, Davidson AE, Heckenlively JR, Branham K, Ren H, Lopez I, Maria M, Azam M, Henkes A, Blokland E, Qamar R, Webster AR, Cremers FPM, Moore AT, Koenekoop RK; [LCA5 Study Group (see acknowledgements for Universities), Andreasson S, De Baere E, Bennett J, Chader GJ, Berger W, Golovleva I, Greenberg J, den Hollander AI, Klaver CCW, Klevering BJ, Lorenz B, Preising MN, Ramsear R, Roberts L, Roepman R, Rohrschneider K, Wissinger B. Screening of a large cohort of leber congenital amaurosis and retinitis pigmentosa patients identifies novel LCA5 mutations and new genotype-phenotype correlations. Hum Mutat. 2013 Nov;34(11):1537-1546. doi: 10.1002/humu.22398. Erratum in: Hum Mutat. 2014 Jan;35(1):149. Ramsear, Raj [corrected to Ramesar, Raj]. PMID: 23946133.
Roosing S, van den Born LI, Hoyng CB, Thiadens AA, De Baere E, Collin RW, Koenekoop RK, Leroy BP, van Moll-Ramirez N, Venselaar H, Riemslag FC, Cremers FP, Klaver CC, den Hollander AI. Maternal uniparental isodisomy of chromosome 6 reveals a TULP1 mutation as a novel cause of cone dysfunction. Ophthalmology. 2013 Jun;120(6):1239-46. doi: 10.1016/j.ophtha.2012.12.005. PMID: 23499059.
Verdin H, D’haene B, Beysen D, Novikova Y, Menten B, Sante T, Lapunzina P, Nevado J, Carvalho CM, Lupski JR, De Baere E. Microhomology-mediated mechanisms underlie non-recurrent disease-causing microdeletions of the FOXL2 gene or its regulatory domain. PLoS Genet. 2013;9(3):e1003358. doi: 10.1371/journal.pgen.1003358. PMID: 23516377.
Asai-Coakwell M, March L, Dai XH, Duval M, Lopez I, French CR, Famulski J, De Baere E, Francis PJ, Sundaresan P, Sauvé Y, Koenekoop RK, Berry FB, Allison WT, Waskiewicz AJ, Lehmann OJ. Contribution of growth differentiation factor 6-dependent cell survival to early-onset retinal dystrophies. Hum Mol Genet. 2013 Apr 1;22(7):1432-42. doi: 10.1093/hmg/dds560. PMID: 23307924.
Cassiman C, Spileers W, De Baere E, de Ravel T, Casteels I. Peculiar fundus abnormalities and pathognomonic electrophysiological findings in a 14-month-old boy with NR2E3 mutations. Ophthalmic Genet. 2013 Mar-Jun;34(1-2):105-8. doi: 10.3109/13816810.2012.726395. PMID: 23039133.
Manes G, Meunier I, Avila-Fernández A, Banfi S, Le Meur G, Zanlonghi X, Corton M, Simonelli F, Brabet P, Labesse G, Audo I, Mohand-Said S, Zeitz C, Sahel JA, Weber M, Dollfus H, Dhaenens CM, Allorge D, De Baere E, Koenekoop RK, Kohl S, Cremers FP, Hollyfield JG, Sénéchal A, Hebrard M, Bocquet B, Ayuso García C, Hamel CP. Mutations in IMPG1 cause vitelliform macular dystrophies. Am J Hum Genet. 2013 Sep 5;93(3):571-8. doi: 10.1016/j.ajhg.2013.07.018. PMID: 23993198.
Estrada-Cuzcano A, Koenekoop RK, Senechal A, De Baere E, de Ravel T, Banfi S, Kohl S, Ayuso C, Sharon D, Hoyng CB, Hamel CP, Leroy BP, Ziviello C, Lopez I, Bazinet A, Wissinger B, Sliesoraityte I, Avila-Fernandez A, Littink KW, Vingolo EM, Signorini S, Banin E, Mizrahi-Meissonnier L, Zrenner E, Kellner U, Collin RW, den Hollander AI, Cremers FP, Klevering BJ. BBS1 mutations in a wide spectrum of phenotypes ranging from nonsyndromic retinitis pigmentosa to Bardet-Biedl syndrome. Arch Ophthalmol. 2012 Nov;130(11):1425-32. doi: 10.1001/archophthalmol.2012.2434. PMID: 23143442.
Kohl S, Coppieters F, Meire F, Schaich S, Roosing S, Brennenstuhl C, Bolz S, van Genderen MM, Riemslag FC; European Retinal Disease Consortium, Lukowski R, den Hollander AI, Cremers FP, De Baere E, Hoyng CB, Wissinger B. A nonsense mutation in PDE6H causes autosomal-recessive incomplete achromatopsia. Am J Hum Genet. 2012 Sep 7;91(3):527-32. PMID: 22901948.
Deardorff MA, Bando M, Nakato R, Watrin E, Itoh T, Minamino M, Saitoh K, Komata M, Katou Y, Clark D, Cole KE, De Baere E, Decroos C, Di Donato N, Ernst S, Francey LJ, Gyftodimou Y, Hirashima K, Hullings M, Ishikawa Y, Jaulin C, Kaur M, Kiyono T, Lombardi PM, Magnaghi-Jaulin L, Mortier GR, Nozaki N, Petersen MB, Seimiya H, Siu VM, Suzuki Y, Takagaki K, Wilde JJ, Willems PJ, Prigent C, Gillessen-Kaesbach G, Christianson DW, Kaiser FJ, Jackson LG, Hirota T, Krantz ID, Shirahige K. HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle. Nature. 2012 Sep 13;489(7415):313-7. doi: 10.1038/nature11316. PMID: 22885700.
Désir J, Coppieters F, Van Regemorter N, De Baere E, Abramowicz M, Cordonnier M. TMEM126A mutation in a Moroccan family with autosomal recessive optic atrophy. Mol Vis. 2012;18:1849-57. Epub 2012 Jul 5. PMID: 22815638.
Krawitz PM, Murakami Y, Hecht J, Krüger U, Holder SE, Mortier GR, Delle Chiaie B, De Baere E, Thompson MD, Roscioli T, Kielbasa S, Kinoshita T, Mundlos S, Robinson PN, Horn D. Mutations in PIGO, a member of the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation. Am J Hum Genet. 2012 Jul 13;91(1):146-51. doi: 10.1016/j.ajhg.2012.05.004. PMID: 22683086.
Cima I, Brecelj J, Sustar M, Coppieters F, Leroy BP, De Baere E, Hawlina M. Enhanced S-cone syndrome with preserved macular structure and severely depressed retinal function. Doc Ophthalmol. 2012 Oct;125(2):161-8. doi: 10.1007/s10633-012-9337-y. PMID: 22711506.
Audo I, Bujakowska K, Orhan E, Poloschek CM, Defoort-Dhellemmes S, Drumare I, Kohl S, Luu TD, Lecompte O, Zrenner E, Lancelot ME, Antonio A, Germain A, Michiels C, Audier C, Letexier M, Saraiva JP, Leroy BP, Munier FL, Mohand-Saïd S, Lorenz B, Friedburg C, Preising M, Kellner U, Renner AB, Moskova-Doumanova V, Berger W, Wissinger B, Hamel CP, Schorderet DF, De Baere E, Sharon D, Banin E, Jacobson SG, Bonneau D, Zanlonghi X, Le Meur G, Casteels I, Koenekoop R, Long VW, Meire F, Prescott K, de Ravel T, Simmons I, Nguyen H, Dollfus H, Poch O, Léveillard T, Nguyen-Ba-Charvet K, Sahel JA, Bhattacharya SS, Zeitz C. Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness. Am J Hum Genet. 2012 Feb 10;90(2):321-30. doi: 10.1016/j.ajhg.2011.12.007. Erratum in: Am J Hum Genet. 2012 Jul 13;91(1):209. PMID: 22325361.
Coppieters F, De Wilde B, Lefever S, De Meester E, De Rocker N, Van Cauwenbergh C, Pattyn F, Meire F, Leroy BP, Hellemans J, Vandesompele J, De Baere E. Massively parallel sequencing for early molecular diagnosis in Leber congenital amaurosis. Genet Med. 2012 Jun;14(6):576-85. doi: 10.1038/gim.2011.51. PMID: 22261762.
Thiadens AA, Phan TM, Zekveld-Vroon RC, Leroy BP, van den Born LI, Hoyng CB, Klaver CC; Writing Committee for the Cone Disorders Study Group Consortium, Roosing S, Pott JW, van Schooneveld MJ, van Moll-Ramirez N, van Genderen MM, Boon CJ, den Hollander AI, Bergen AA, De Baere E, Cremers FP, Lotery AJ. Clinical course, genetic etiology, and visual outcome in cone and cone-rod dystrophy. Ophthalmology. 2012 Apr;119(4):819-26. doi: 10.1016/j.ophtha.2011.10.011. PMID: 22264887.
Heylens G, De Cuypere G, Zucker KJ, Schelfaut C, Elaut E, Vanden Bossche H, De Baere E, T'Sjoen G. Gender identity disorder in twins: a review of the case report literature. J Sex Med. 2012 Mar;9(3):751-7. doi: 10.1111/j.1743-6109.2011.02567.x. Review. PMID: 22146048.
Haghighi A, Verdin H, Haghighi-Kakhki H, Piri N, Gohari NS, De Baere E. Missense mutation outside the forkhead domain of FOXL2 causes a severe form of BPES type II. Mol Vis. 2012;18:211-8. PMID: 22312189.
Verdin H, De Baere E. FOXL2 impairment in human disease. Horm Res Paediatr. 2012;77(1):2-11. doi: 10.1159/000335236. Review. PMID: 22248822.
Zahanova S, Meaney B, Łabieniec B, Verdin H, De Baere E, Nowaczyk MJ. Blepharophimosis-ptosis-epicanthus inversus syndrome plus: deletion 3q22.3q23 in a patient with characteristic facial features and with genital anomalies, spastic diplegia, and speech delay. Clin Dysmorphol. 2012 Jan;21(1):48-52. doi: 10.1097/MCD.0b013e32834977f1. PMID: 21934608.
Decock CE, De Baere EE, Bauters W, Shah AD, Delaey C, Forsyth R, Leroy BP, Kestelyn P, Claerhout I. Insights into levator muscle dysfunction in a cohort of patients with molecularly confirmed blepharophimosis-ptosis-epicanthus inversus syndrome using high-resolution imaging, anatomic examination, and histopathologic examination. Arch Ophthalmol. 2011 Dec;129(12):1564-9. doi: 10.1001/archophthalmol.2011.348. PMID: 22159675.
Wissinger B, Schaich S, Baumann B, Bonin M, Jägle H, Friedburg C, Varsányi B, Hoyng CB, Dollfus H, Heckenlively JR, Rosenberg T, Rudolph G, Kellner U, Salati R, Plomp A, De Baere E, Andrassi-Darida M, Sauer A, Wolf C, Zobor D, Bernd A, Leroy BP, Enyedi P, Cremers FP, Lorenz B, Zrenner E, Kohl S. Large deletions of the KCNV2 gene are common in patients with cone dystrophy with supernormal rod response. Hum Mutat. 2011 Dec;32(12):1398-406. doi: 10.1002/humu.21580. PMID: 21882291.
Decock CE, Claerhout I, Leroy BP, Kesteleyn P, Shah AD, De Baere E. Correction of the lower eyelid malpositioning in the blepharophimosis-ptosis-epicanthus inversus syndrome. Ophthal Plast Reconstr Surg. 2011 Sep-Oct;27(5):368-70. doi: 10.1097/IOP.0b013e31821b6c58. PMID: 21562436.
Meire F, Delpierre I, Brachet C, Roulez F, Van Nechel C, Depasse F, Christophe C, Menten B, De Baere E. Nonsyndromic bilateral and unilateral optic nerve aplasia: first familial occurrence and potential implication of CYP26A1 and CYP26C1 genes. Mol Vis. 2011;17:2072-9. PMID: 21850183.
Borman AD, Davidson AE, O'Sullivan J, Thompson DA, Robson AG, De Baere E, Black GC, Webster AR, Holder GE, Leroy BP, Manson FD, Moore AT. Childhood-onset autosomal recessive bestrophinopathy. Arch Ophthalmol. 2011 Aug;129(8):1088-93. doi: 10.1001/archophthalmol.2011.197. PMID: 21825197.
Decock CE, Shah AD, Delaey C, Forsyth R, Bauters W, Kestelyn P, De Baere E, Claerhout I. Increased levator muscle function by supramaximal resection in patients with blepharophimosis-ptosis-epicanthus inversus syndrome. Arch Ophthalmol. 2011 Aug;129(8):1018-22. doi: 10.1001/archophthalmol.2011.218. PMID: 21825186.
Gorlova O, Martin JE, Rueda B, Koeleman BP, Ying J, Teruel M, Diaz-Gallo LM, Broen JC, Vonk MC, Simeon CP, Alizadeh BZ, Coenen MJ, Voskuyl AE, Schuerwegh AJ, van Riel PL, Vanthuyne M, van 't Slot R, Italiaander A, Ophoff RA, Hunzelmann N, Fonollosa V, Ortego-Centeno N, González-Gay MA, García-Hernández FJ, González-Escribano MF, Airo P, van Laar J, Worthington J, Hesselstrand R, Smith V, de Keyser F, Houssiau F, Chee MM, Madhok R, Shiels PG, Westhovens R, Kreuter A, De Baere E, Witte T, Padyukov L, Nordin A, Scorza R, Lunardi C, Lie BA, Hoffmann-Vold AM, Palm O, García de la Peña P, Carreira P; Spanish Scleroderma Group, Varga J, Hinchcliff M, Lee AT, Gourh P, Amos CI, Wigley FM, Hummers LK, Nelson JL, Riemekasten G, Herrick A, Beretta L, Fonseca C, Denton CP, Gregersen PK, Agarwal S, Assassi S, Tan FK, Arnett FC, Radstake TR, Mayes MD, Martin J. Identification of novel genetic markers associated with clinical phenotypes of systemic sclerosis through a genome-wide association strategy. PLoS Genet. 2011 Jul;7(7):e1002178. doi: 10.1371/journal.pgen.1002178. Erratum in: PLoS Genet. 2011 Aug;7(8). doi:10.1371/annotation/3aeebb2e-64e5-4548-8d65-1f2d5dfeb073. PLoS Genet. 2011 Aug;7(8). doi:10.1371/annotation/7a52649c-0942-4bd8-a5d3-3cdacca03cd8. Hummers, J [removed]. PMID: 21779181.
Graziadio C, de Moraes FN, Rosa RF, Zen PR, Travi GM, Waldman C, Medina CT, De Baere E, Paskulin GA. Blepharophimosis-ptosis-epicanthus inversus syndrome. Pediatr Int. 2011 Jun;53(3):390-2. doi: 10.1111/j.1442-200X.2010.03223.x. PMID: 21696507.
Berghmans LV, de Mendonça RH, Coppieters F, de Oliveira Maia O Jr, Takahashi WY, Lissens W, De Baere E, Leroy BP. Discordance for retinitis pigmentosa in two monozygotic twin pairs. Retina. 2011 Jun;31(6):1164-9. doi: 10.1097/IAE.0b013e3181fbcf2b. PMID: 21283054.
Weisschuh N, De Baere E, Wissinger B, Tümer Z. Clinical utility gene card for: Axenfeld-Rieger syndrome. Eur J Hum Genet. 2011 Mar;19(3). doi: 10.1038/ejhg.2010.163. PMID: 20940740.
Estrada-Cuzcano A, Koenekoop RK, Coppieters F, Kohl S, Lopez I, Collin RW, De Baere EB, Roeleveld D, Marek J, Bernd A, Rohrschneider K, van den Born LI, Meire F, Maumenee IH, Jacobson SG, Hoyng CB, Zrenner E, Cremers FP, den Hollander AI. IQCB1 mutations in patients with leber congenital amaurosis. Invest Ophthalmol Vis Sci. 2011 Feb 11;52(2):834-9. doi: 10.1167/iovs.10-5221. PMID: 20881296.
D’haene B, Meire F, Claerhout I, Kroes HY, Plomp A, Arens YH, de Ravel T, Casteels I, De Jaegere S, Hooghe S, Wuyts W, van den Ende J, Roulez F, Veenstra-Knol HE, Oldenburg RA, Giltay J, Verheij JB, de Faber JT, Menten B, De Paepe A, Kestelyn P, Leroy BP, De Baere E. Expanding the spectrum of FOXC1 and PITX2 mutations and copy number changes in patients with anterior segment malformations. Invest Ophthalmol Vis Sci. 2011 Jan 21;52(1):324-33. doi: 10.1167/iovs.10-5309. PMID: 20881294.
Coppieters F, Lefever S, Leroy BP, De Baere E. CEP290, a gene with many faces: mutation overview and presentation of CEP290base. Hum Mutat. 2010 Oct;31(10):1097-108. doi: 10.1002/humu.21337. Review. PMID: 20690115.
Coppieters F, Casteels I, Meire F, De Jaegere S, Hooghe S, van Regemorter N, Van Esch H, Matuleviciene A, Nunes L, Meersschaut V, Walraedt S, Standaert L, Coucke P, Hoeben H, Kroes HY, Vande Walle J, de Ravel T, Leroy BP, De Baere E. Genetic screening of LCA in Belgium: predominance of CEP290 and identification of potential modifier alleles in AHI1 of CEP290-related phenotypes. Hum Mutat. 2010 Oct;31(10):E1709-66. doi: 10.1002/humu.21336. PMID: 20683928.
Radstake TR, Gorlova O, Rueda B, Martin JE, Alizadeh BZ, Palomino-Morales R, Coenen MJ, Vonk MC, Voskuyl AE, Schuerwegh AJ, Broen JC, van Riel PL, van 't Slot R, Italiaander A, Ophoff RA, Riemekasten G, Hunzelmann N, Simeon CP, Ortego-Centeno N, González-Gay MA, González-Escribano MF; Spanish Scleroderma Group, Airo P, van Laar J, Herrick A, Worthington J, Hesselstrand R, Smith V, de Keyser F, Houssiau F, Chee MM, Madhok R, Shiels P, Westhovens R, Kreuter A, Kiener H, De Baere E, Witte T, Padykov L, Klareskog L, Beretta L, Scorza R, Lie BA, Hoffmann-Vold AM, Carreira P, Varga J, Hinchcliff M, Gregersen PK, Lee AT, Ying J, Han Y, Weng SF, Amos CI, Wigley FM, Hummers L, Nelson JL, Agarwal SK, Assassi S, Gourh P, Tan FK, Koeleman BP, Arnett FC, Martin J, Mayes MD. Genome-wide association study of systemic sclerosis identifies CD247 as a new susceptibility locus. Nat Genet. 2010 May;42(5):426-9. doi: 10.1038/ng.565. PMID: 20383147.
D’haene B, Hellemans J, Craen M, De Schepper J, Devriendt K, Fryns JP, Keymolen K, Debals E, de Klein A, de Jong EM, Segers K, De Paepe A, Mortier G, Vandesompele J, De Baere E. Improved molecular diagnostics of idiopathic short stature and allied disorders: quantitative polymerase chain reaction-based copy number profiling of SHOX and pseudoautosomal region 1. J Clin Endocrinol Metab. 2010 Jun;95(6):3010-8. doi: 10.1210/jc.2009-2218. PMID: 20375215.
Benayoun BA, Caburet S, Dipietromaria A, Georges A, D’haene B, Pandaranayaka PJ, L'Hôte D, Todeschini AL, Krishnaswamy S, Fellous M, De Baere E, Veitia RA. Functional exploration of the adult ovarian granulosa cell tumor-associated somatic FOXL2 mutation p.Cys134Trp (c.402C>G). PLoS One. 2010 Jan 20;5(1):e8789. doi: 10.1371/journal.pone.0008789. PMID: 20098707.
De Baere E, Fellous M, Veitia RA. The transcription factor FOXL2 in ovarian function and dysfunction. Folia Histochem Cytobiol. 2009;47(5):S43-9. doi: 10.2478/v10042-009-0062-7. Review. PMID: 20067892.
Shkalim V, Baris HN, Gal G, Gleiss R, Calderon S, Wessels M, Maat-Kievit A, Menten B, De Baere E, Hennekam RC, Schirmacher A, Bale S, Shohat M, Willems PJ. Autosomal dominant syndrome of mental retardation, hypotelorism, and cleft palate resembling Schilbach-Rott syndrome. Am J Med Genet A. 2009 Dec;149A(12):2700-5. doi: 10.1002/ajmg.a.33095. PMID: 19921646.
Audo I, Kohl S, Leroy BP, Munier FL, Guillonneau X, Mohand-Saïd S, Bujakowska K, Nandrot EF, Lorenz B, Preising M, Kellner U, Renner AB, Bernd A, Antonio A, Moskova-Doumanova V, Lancelot ME, Poloschek CM, Drumare I, Defoort-Dhellemmes S, Wissinger B, Léveillard T, Hamel CP, Schorderet DF, De Baere E, Berger W, Jacobson SG, Zrenner E, Sahel JA, Bhattacharya SS, Zeitz C. TRPM1 is mutated in patients with autosomal-recessive complete congenital stationary night blindness. Am J Hum Genet. 2009 Nov;85(5):720-9. doi: 10.1016/j.ajhg.2009.10.013. PMID: 19896113.
Maguire AM, High KA, Auricchio A, Wright JF, Pierce EA, Testa F, Mingozzi F, Bennicelli JL, Ying GS, Rossi S, Fulton A, Marshall KA, Banfi S, Chung DC, Morgan JI, Hauck B, Zelenaia O, Zhu X, Raffini L, Coppieters F, De Baere E, Shindler KS, Volpe NJ, Surace EM, Acerra C, Lyubarsky A, Redmond TM, Stone E, Sun J, McDonnell JW, Leroy BP, Simonelli F, Bennett J. Age-dependent effects of RPE65 gene therapy for Leber's congenital amaurosis: a phase 1 dose-escalation trial. Lancet. 2009 Nov 7;374(9701):1597-605. doi: 10.1016/S0140-6736(09)61836-5. Erratum in: Lancet. 2010 Jan 2;375(9708):30. PMID: 19854499.
Méduri G, Bachelot A, Duflos C, Bständig B, Poirot C, Genestie C, Veitia R, De Baere E, Touraine P. FOXL2 mutations lead to different ovarian phenotypes in BPES patients: Case Report. Hum Reprod. 2010 Jan;25(1):235-43. doi: 10.1093/humrep/dep355. PMID: 19819892.
Zeitz C, Labs S, Lorenz B, Forster U, Uksti J, Kroes HY, De Baere E, Leroy BP, Cremers FP, Wittmer M, van Genderen MM, Sahel JA, Audo I, Poloschek CM, Mohand-Saïd S, Fleischhauer JC, Hüffmeier U, Moskova-Doumanova V, Levin AV, Hamel CP, Leifert D, Munier FL, Schorderet DF, Zrenner E, Friedburg C, Wissinger B, Kohl S, Berger W. Genotyping microarray for CSNB-associated genes. Invest Ophthalmol Vis Sci. 2009 Dec;50(12):5919-26. doi: 10.1167/iovs.09-3548. PMID: 19578023.
Riise R, D’haene B, De Baere E, Grønskov K, Brøndum-Nielsen K. Rieger syndrome is not associated with PAX6 deletion: a correction to Acta Ophthalmol Scand 2001: 79: 201-203. Acta Ophthalmol. 2009 Nov;87(8):923. doi: 10.1111/j.1755-3768.2009.01696.x. PMID: 19764918.
Thiadens AA, den Hollander AI, Roosing S, Nabuurs SB, Zekveld-Vroon RC, Collin RW, De Baere E, Koenekoop RK, van Schooneveld MJ, Strom TM, van Lith-Verhoeven JJ, Lotery AJ, van Moll-Ramirez N, Leroy BP, van den Born LI, Hoyng CB, Cremers FP, Klaver CC. Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders. Am J Hum Genet. 2009 Aug;85(2):240-7. doi: 10.1016/j.ajhg.2009.06.016. PMID: 19615668.
D’haene B, Attanasio C, Beysen D, Dostie J, Lemire E, Bouchard P, Field M, Jones K, Lorenz B, Menten B, Buysse K, Pattyn F, Friedli M, Ucla C, Rossier C, Wyss C, Speleman F, De Paepe A, Dekker J, Antonarakis SE, De Baere E. Disease-causing 7.4 kb cis-regulatory deletion disrupting conserved non-coding sequences and their interaction with the FOXL2 promotor: implications for mutation screening. PLoS Genet. 2009 Jun;5(6):e1000522. doi: 10.1371/journal.pgen.1000522. PMID: 19543368.
Benayoun BA, Batista F, Auer J, Dipietromaria A, L'Hôte D, De Baere E, Veitia RA. Positive and negative feedback regulates the transcription factor FOXL2 in response to cell stress: evidence for a regulatory imbalance induced by disease-causing mutations. Hum Mol Genet. 2009 Feb 15;18(4):632-44. doi: 10.1093/hmg/ddn389. PMID: 19010791.
Beysen D, De Paepe A, De Baere E. FOXL2 mutations and genomic rearrangements in BPES. Hum Mutat. 2009 Feb;30(2):158-69. doi: 10.1002/humu.20807. Review. PMID: 18726931.
Gijsbers AC, D’haene B, Hilhorst-Hofstee Y, Mannens M, Albrecht B, Seidel J, Witt DR, Maisenbacher MK, Loeys B, van Essen T, Bakker E, Hennekam R, Breuning MH, De Baere E, Ruivenkamp CA. Identification of copy number variants associated with BPES-like phenotypes. Hum Genet. 2008 Dec;124(5):489-98. doi: 10.1007/s00439-008-0574-9. PMID: 18953567.
Beysen D, De Jaegere S, Amor D, Bouchard P, Christin-Maitre S, Fellous M, Touraine P, Grix AW, Hennekam R, Meire F, Oyen N, Wilson LC, Barel D, Clayton-Smith J, de Ravel T, Decock C, Delbeke P, Ensenauer R, Ebinger F, Gillessen-Kaesbach G, Hendriks Y, Kimonis V, Laframboise R, Laissue P, Leppig K, Leroy BP, Miller DT, Mowat D, Neumann L, Plomp A, Van Regemorter N, Wieczorek D, Veitia RA, De Paepe A, De Baere E. Identification of 34 novel and 56 known FOXL2 mutations in patients with Blepharophimosis syndrome. Hum Mutat. 2008 Nov;29(11):E205-19. doi: 10.1002/humu.20819. PMID: 18642388.
Nallathambi J, Neethirajan G, Usha K, Jitendra J, De Baere E, Sundaresan P. FOXL2 mutations in Indian families with blepharophimosis-ptosis-epicanthus inversus syndrome. J Genet. 2007 Aug;86(2):165-8. PMID: 17968144.
Beysen D, Moumné L, Veitia R, Peters H, Leroy BP, De Paepe A, De Baere E. Missense mutations in the forkhead domain of FOXL2 lead to subcellular mislocalization, protein aggregation and impaired transactivation. Hum Mol Genet. 2008 Jul 1;17(13):2030-8. doi: 10.1093/hmg/ddn100. PMID: 18372316.
Decaestecker K, Philibert P, De Baere E, Hoebeke P, Kaufman JM, Sultan C, T'Sjoen G. A novel mutation c.118delA in exon 1 of the androgen receptor gene resulting in complete androgen insensitivity syndrome within a large family. Fertil Steril. 2008 May;89(5):1260.e3-7. PMID: 17714709.
Coppieters F, Leroy BP, Beysen D, Hellemans J, De Bosscher K, Haegeman G, Robberecht K, Wuyts W, Coucke PJ, De Baere E. Recurrent mutation in the first zinc finger of the orphan nuclear receptor NR2E3 causes autosomal dominant retinitis pigmentosa. Am J Hum Genet. 2007 Jul;81(1):147-57. PMID: 17564971.
Nallathambi J, Moumné L, De Baere E, Beysen D, Usha K, Sundaresan P, Veitia RA. A novel polyalanine expansion in FOXL2: the first evidence for a recessive form of the blepharophimosis syndrome (BPES) associated with ovarian dysfunction. Hum Genet. 2007 Mar;121(1):107-12. PMID: 17089161.
Cremers FP, Kimberling WJ, Külm M, de Brouwer AP, van Wijk E, te Brinke H, Cremers CW, Hoefsloot LH, Banfi S, Simonelli F, Fleischhauer JC, Berger W, Kelley PM, Haralambous E, Bitner-Glindzicz M, Webster AR, Saihan Z, De Baere E, Leroy BP, Silvestri G, McKay GJ, Koenekoop RK, Millan JM, Rosenberg T, Joensuu T, Sankila EM, Weil D, Weston MD, Wissinger B, Kremer H. Development of a genotyping microarray for Usher syndrome. J Med Genet. 2007 Feb;44(2):153-60. PMID: 16963483.
Yzer S, Leroy BP, De Baere E, de Ravel TJ, Zonneveld MN, Voesenek K, Kellner U, Ciriano JP, de Faber JT, Rohrschneider K, Roepman R, den Hollander AI, Cruysberg JR, Meire F, Casteels I, van Moll-Ramirez NG, Allikmets R, van den Born LI, Cremers FP. Microarray-based mutation detection and phenotypic characterization of patients with Leber congenital amaurosis. Invest Ophthalmol Vis Sci. 2006 Mar;47(3):1167-76. PMID: 16505055.
Baron D, Batista F, Chaffaux S, Cocquet J, Cotinot C, Cribiu E, De Baere E, Guiguen Y, Jaubert F, Pailhoux E, Pannetier M, Vaiman D, Vigier B, Veitia R, Fellous M. Foxl2 gene and the development of the ovary: a story about goat, mouse, fish and woman. Reprod Nutr Dev. 2005 May-Jun;45(3):377-82. Review. Erratum in: Reprod Nutr Dev. 2005 Nov-Dec;45(6):729. De Baeree, Elfride [corrected to De Baere, Elfride]. PMID: 15982462.
Beysen D, Raes J, Leroy BP, Lucassen A, Yates JR, Clayton-Smith J, Ilyina H, Brooks SS, Christin-Maitre S, Fellous M, Fryns JP, Kim JR, Lapunzina P, Lemyre E, Meire F, Messiaen LM, Oley C, Splitt M, Thomson J, Van de Peer Y, Veitia RA, De Paepe A, De Baere E. Deletions involving long-range conserved nongenic sequences upstream and downstream of FOXL2 as a novel disease-causing mechanism in blepharophimosis syndrome. Am J Hum Genet. 2005 Aug;77(2):205-18. PMID: 15962237.
De Baere E, Copelli S, Caburet S, Laissue P, Beysen D, Christin-Maitre S, Bouchard P, Veitia R, Fellous M. Premature ovarian failure and forkhead transcription factor FOXL2: blepharophimosis-ptosis-epicanthus inversus syndrome and ovarian dysfunction. Pediatr Endocrinol Rev. 2005 Jun;2(4):653-60. Review. PMID: 16208278.
Beysen D, Vandesompele J, Messiaen L, De Paepe A, De Baere E. The human FOXL2 mutation database. Hum Mutat. 2004 Sep;24(3):189-93. PMID: 15300845.
Cocquet J, De Baere E, Caburet S, Veitia RA. Compositional biases and polyalanine runs in humans. Genetics. 2003 Nov;165(3):1613-7. PMID: 14668408.
De Baere E, Beysen D, Oley C, Lorenz B, Cocquet J, De Sutter P, Devriendt K, Dixon M, Fellous M, Fryns JP, Garza A, Jonsrud C, Koivisto PA, Krause A, Leroy BP, Meire F, Plomp A, Van Maldergem L, De Paepe A, Veitia R, Messiaen L. FOXL2 and BPES: mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlation. Am J Hum Genet. 2003 Feb;72(2):478-87. PMID: 12529855.
Fieremans N, Bauters M, Belet S, Verbeeck J, Jansen AC, Seneca S, Roelens F, De Baere E, Marynen P, Froyen G. De novo MECP2 duplications in two females with intellectual disability and unfavorable complete skewed X-inactivation. Hum Genet. 2014 Nov;133(11):1359-67. doi: 10.1007/s00439-014-1469-6. PMID: 25037250.
Gulati R, Verdin H, Halanaik D, Bhat BV, De Baere E. Co-occurrence of congenital hydronephrosis and FOXL2-associated blepharophimosis, ptosis, epicanthus inversus syndrome (BPES). Eur J Med Genet. 2014 Oct;57(10):576-8. doi: 10.1016/j.ejmg.2014.08.004. PMID: 25192944.
De Baere E. Heterozygous coding ZNF469 variants enriched in New Zealand patients with isolated keratoconus. Invest Ophthalmol Vis Sci. 2014 Sep 8;55(9):5636. doi: 10.1167/iovs.14-15486. PMID: 25201924.
Coppieters F, Van Schil K, Bauwens M, Verdin H, De Jaegher A, Syx D, Sante T, Lefever S, Abdelmoula NB, Depasse F, Casteels I, de Ravel T, Meire F, Leroy BP, De Baere E. Identity-by-descent-guided mutation analysis and exome sequencing in consanguineous families reveals unusual clinical and molecular findings in retinal dystrophy. Genet Med. 2014 Sep;16(9):671-80. doi: 10.1038/gim.2014.24. PMID: 24625443.
Brosens E, de Jong EM, Barakat TS, Eussen BH, D’haene B, De Baere E, Verdin H, Poddighe PJ, Galjaard RJ, Gribnau J, Brooks AS, Tibboel D, de Klein A. Structural and numerical changes of chromosome X in patients with esophageal atresia. Eur J Hum Genet. 2014 Sep;22(9):1077-84. doi: 10.1038/ejhg.2013.295. PMID: 24398799.
De Baere E. Deciphering the cis-regulatory landscape of SOX9 implicated in craniofacial development and isolated Pierre Robin sequence. Hum Mutat. 2014 Aug;35(8):v. doi: 10.1002/humu.22411. PMID: 25043979.
Ajmal M, Khan MI, Neveling K, Khan YM, Azam M, Waheed NK, Hamel CP, Ben-Yosef T, De Baere E, Koenekoop RK, Collin RW, Qamar R, Cremers FP. A missense mutation in the splicing factor gene DHX38 is associated with early-onset retinitis pigmentosa with macular coloboma. J Med Genet. 2014 Jul;51(7):444-8. doi: 10.1136/jmedgenet-2014-102316. PMID: 24737827.
Verdin H, Sorokina EA, Meire F, Casteels I, de Ravel T, Semina EV, De Baere E. Novel and recurrent PITX3 mutations in Belgian families with autosomal dominant congenital cataract and anterior segment dysgenesis have similar phenotypic and functional characteristics. Orphanet J Rare Dis. 2014 Feb 20;9:26. doi: 10.1186/1750-1172-9-26. PMID: 24555714.
Schauwvlieghe PP, Torre KD, Coppieters F, Van Hoey A, De Baere E, De Zaeytijd J, Leroy BP, Brodie SE. High-resolution optical coherence tomography, autofluorescence, and infrared reflectance imaging in Sjögren reticular dystrophy. Retina. 2013 Nov-Dec;33(10):2118-25. doi: 10.1097/IAE.0b013e3182899274. PMID: 23619632.
Mackay DS, Borman AD, Sui R, van den Born LI, Berson EL, Ocaka LA, Davidson AE, Heckenlively JR, Branham K, Ren H, Lopez I, Maria M, Azam M, Henkes A, Blokland E, Qamar R, Webster AR, Cremers FPM, Moore AT, Koenekoop RK; [LCA5 Study Group (see acknowledgements for Universities), Andreasson S, De Baere E, Bennett J, Chader GJ, Berger W, Golovleva I, Greenberg J, den Hollander AI, Klaver CCW, Klevering BJ, Lorenz B, Preising MN, Ramsear R, Roberts L, Roepman R, Rohrschneider K, Wissinger B. Screening of a large cohort of leber congenital amaurosis and retinitis pigmentosa patients identifies novel LCA5 mutations and new genotype-phenotype correlations. Hum Mutat. 2013 Nov;34(11):1537-1546. doi: 10.1002/humu.22398. Erratum in: Hum Mutat. 2014 Jan;35(1):149. Ramsear, Raj [corrected to Ramesar, Raj]. PMID: 23946133.
Roosing S, van den Born LI, Hoyng CB, Thiadens AA, De Baere E, Collin RW, Koenekoop RK, Leroy BP, van Moll-Ramirez N, Venselaar H, Riemslag FC, Cremers FP, Klaver CC, den Hollander AI. Maternal uniparental isodisomy of chromosome 6 reveals a TULP1 mutation as a novel cause of cone dysfunction. Ophthalmology. 2013 Jun;120(6):1239-46. doi: 10.1016/j.ophtha.2012.12.005. PMID: 23499059.
Verdin H, D’haene B, Beysen D, Novikova Y, Menten B, Sante T, Lapunzina P, Nevado J, Carvalho CM, Lupski JR, De Baere E. Microhomology-mediated mechanisms underlie non-recurrent disease-causing microdeletions of the FOXL2 gene or its regulatory domain. PLoS Genet. 2013;9(3):e1003358. doi: 10.1371/journal.pgen.1003358. PMID: 23516377.
Asai-Coakwell M, March L, Dai XH, Duval M, Lopez I, French CR, Famulski J, De Baere E, Francis PJ, Sundaresan P, Sauvé Y, Koenekoop RK, Berry FB, Allison WT, Waskiewicz AJ, Lehmann OJ. Contribution of growth differentiation factor 6-dependent cell survival to early-onset retinal dystrophies. Hum Mol Genet. 2013 Apr 1;22(7):1432-42. doi: 10.1093/hmg/dds560. PMID: 23307924.
Cassiman C, Spileers W, De Baere E, de Ravel T, Casteels I. Peculiar fundus abnormalities and pathognomonic electrophysiological findings in a 14-month-old boy with NR2E3 mutations. Ophthalmic Genet. 2013 Mar-Jun;34(1-2):105-8. doi: 10.3109/13816810.2012.726395. PMID: 23039133.
Manes G, Meunier I, Avila-Fernández A, Banfi S, Le Meur G, Zanlonghi X, Corton M, Simonelli F, Brabet P, Labesse G, Audo I, Mohand-Said S, Zeitz C, Sahel JA, Weber M, Dollfus H, Dhaenens CM, Allorge D, De Baere E, Koenekoop RK, Kohl S, Cremers FP, Hollyfield JG, Sénéchal A, Hebrard M, Bocquet B, Ayuso García C, Hamel CP. Mutations in IMPG1 cause vitelliform macular dystrophies. Am J Hum Genet. 2013 Sep 5;93(3):571-8. doi: 10.1016/j.ajhg.2013.07.018. PMID: 23993198.
Estrada-Cuzcano A, Koenekoop RK, Senechal A, De Baere E, de Ravel T, Banfi S, Kohl S, Ayuso C, Sharon D, Hoyng CB, Hamel CP, Leroy BP, Ziviello C, Lopez I, Bazinet A, Wissinger B, Sliesoraityte I, Avila-Fernandez A, Littink KW, Vingolo EM, Signorini S, Banin E, Mizrahi-Meissonnier L, Zrenner E, Kellner U, Collin RW, den Hollander AI, Cremers FP, Klevering BJ. BBS1 mutations in a wide spectrum of phenotypes ranging from nonsyndromic retinitis pigmentosa to Bardet-Biedl syndrome. Arch Ophthalmol. 2012 Nov;130(11):1425-32. doi: 10.1001/archophthalmol.2012.2434. PMID: 23143442.
Kohl S, Coppieters F, Meire F, Schaich S, Roosing S, Brennenstuhl C, Bolz S, van Genderen MM, Riemslag FC; European Retinal Disease Consortium, Lukowski R, den Hollander AI, Cremers FP, De Baere E, Hoyng CB, Wissinger B. A nonsense mutation in PDE6H causes autosomal-recessive incomplete achromatopsia. Am J Hum Genet. 2012 Sep 7;91(3):527-32. PMID: 22901948.
Deardorff MA, Bando M, Nakato R, Watrin E, Itoh T, Minamino M, Saitoh K, Komata M, Katou Y, Clark D, Cole KE, De Baere E, Decroos C, Di Donato N, Ernst S, Francey LJ, Gyftodimou Y, Hirashima K, Hullings M, Ishikawa Y, Jaulin C, Kaur M, Kiyono T, Lombardi PM, Magnaghi-Jaulin L, Mortier GR, Nozaki N, Petersen MB, Seimiya H, Siu VM, Suzuki Y, Takagaki K, Wilde JJ, Willems PJ, Prigent C, Gillessen-Kaesbach G, Christianson DW, Kaiser FJ, Jackson LG, Hirota T, Krantz ID, Shirahige K. HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle. Nature. 2012 Sep 13;489(7415):313-7. doi: 10.1038/nature11316. PMID: 22885700.
Désir J, Coppieters F, Van Regemorter N, De Baere E, Abramowicz M, Cordonnier M. TMEM126A mutation in a Moroccan family with autosomal recessive optic atrophy. Mol Vis. 2012;18:1849-57. Epub 2012 Jul 5. PMID: 22815638.
Krawitz PM, Murakami Y, Hecht J, Krüger U, Holder SE, Mortier GR, Delle Chiaie B, De Baere E, Thompson MD, Roscioli T, Kielbasa S, Kinoshita T, Mundlos S, Robinson PN, Horn D. Mutations in PIGO, a member of the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation. Am J Hum Genet. 2012 Jul 13;91(1):146-51. doi: 10.1016/j.ajhg.2012.05.004. PMID: 22683086.
Cima I, Brecelj J, Sustar M, Coppieters F, Leroy BP, De Baere E, Hawlina M. Enhanced S-cone syndrome with preserved macular structure and severely depressed retinal function. Doc Ophthalmol. 2012 Oct;125(2):161-8. doi: 10.1007/s10633-012-9337-y. PMID: 22711506.
Audo I, Bujakowska K, Orhan E, Poloschek CM, Defoort-Dhellemmes S, Drumare I, Kohl S, Luu TD, Lecompte O, Zrenner E, Lancelot ME, Antonio A, Germain A, Michiels C, Audier C, Letexier M, Saraiva JP, Leroy BP, Munier FL, Mohand-Saïd S, Lorenz B, Friedburg C, Preising M, Kellner U, Renner AB, Moskova-Doumanova V, Berger W, Wissinger B, Hamel CP, Schorderet DF, De Baere E, Sharon D, Banin E, Jacobson SG, Bonneau D, Zanlonghi X, Le Meur G, Casteels I, Koenekoop R, Long VW, Meire F, Prescott K, de Ravel T, Simmons I, Nguyen H, Dollfus H, Poch O, Léveillard T, Nguyen-Ba-Charvet K, Sahel JA, Bhattacharya SS, Zeitz C. Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness. Am J Hum Genet. 2012 Feb 10;90(2):321-30. doi: 10.1016/j.ajhg.2011.12.007. Erratum in: Am J Hum Genet. 2012 Jul 13;91(1):209. PMID: 22325361.
Coppieters F, De Wilde B, Lefever S, De Meester E, De Rocker N, Van Cauwenbergh C, Pattyn F, Meire F, Leroy BP, Hellemans J, Vandesompele J, De Baere E. Massively parallel sequencing for early molecular diagnosis in Leber congenital amaurosis. Genet Med. 2012 Jun;14(6):576-85. doi: 10.1038/gim.2011.51. PMID: 22261762.
Thiadens AA, Phan TM, Zekveld-Vroon RC, Leroy BP, van den Born LI, Hoyng CB, Klaver CC; Writing Committee for the Cone Disorders Study Group Consortium, Roosing S, Pott JW, van Schooneveld MJ, van Moll-Ramirez N, van Genderen MM, Boon CJ, den Hollander AI, Bergen AA, De Baere E, Cremers FP, Lotery AJ. Clinical course, genetic etiology, and visual outcome in cone and cone-rod dystrophy. Ophthalmology. 2012 Apr;119(4):819-26. doi: 10.1016/j.ophtha.2011.10.011. PMID: 22264887.
Heylens G, De Cuypere G, Zucker KJ, Schelfaut C, Elaut E, Vanden Bossche H, De Baere E, T'Sjoen G. Gender identity disorder in twins: a review of the case report literature. J Sex Med. 2012 Mar;9(3):751-7. doi: 10.1111/j.1743-6109.2011.02567.x. Review. PMID: 22146048.
Haghighi A, Verdin H, Haghighi-Kakhki H, Piri N, Gohari NS, De Baere E. Missense mutation outside the forkhead domain of FOXL2 causes a severe form of BPES type II. Mol Vis. 2012;18:211-8. PMID: 22312189.
Verdin H, De Baere E. FOXL2 impairment in human disease. Horm Res Paediatr. 2012;77(1):2-11. doi: 10.1159/000335236. Review. PMID: 22248822.
Zahanova S, Meaney B, Łabieniec B, Verdin H, De Baere E, Nowaczyk MJ. Blepharophimosis-ptosis-epicanthus inversus syndrome plus: deletion 3q22.3q23 in a patient with characteristic facial features and with genital anomalies, spastic diplegia, and speech delay. Clin Dysmorphol. 2012 Jan;21(1):48-52. doi: 10.1097/MCD.0b013e32834977f1. PMID: 21934608.
Decock CE, De Baere EE, Bauters W, Shah AD, Delaey C, Forsyth R, Leroy BP, Kestelyn P, Claerhout I. Insights into levator muscle dysfunction in a cohort of patients with molecularly confirmed blepharophimosis-ptosis-epicanthus inversus syndrome using high-resolution imaging, anatomic examination, and histopathologic examination. Arch Ophthalmol. 2011 Dec;129(12):1564-9. doi: 10.1001/archophthalmol.2011.348. PMID: 22159675.
Wissinger B, Schaich S, Baumann B, Bonin M, Jägle H, Friedburg C, Varsányi B, Hoyng CB, Dollfus H, Heckenlively JR, Rosenberg T, Rudolph G, Kellner U, Salati R, Plomp A, De Baere E, Andrassi-Darida M, Sauer A, Wolf C, Zobor D, Bernd A, Leroy BP, Enyedi P, Cremers FP, Lorenz B, Zrenner E, Kohl S. Large deletions of the KCNV2 gene are common in patients with cone dystrophy with supernormal rod response. Hum Mutat. 2011 Dec;32(12):1398-406. doi: 10.1002/humu.21580. PMID: 21882291.
Decock CE, Claerhout I, Leroy BP, Kesteleyn P, Shah AD, De Baere E. Correction of the lower eyelid malpositioning in the blepharophimosis-ptosis-epicanthus inversus syndrome. Ophthal Plast Reconstr Surg. 2011 Sep-Oct;27(5):368-70. doi: 10.1097/IOP.0b013e31821b6c58. PMID: 21562436.
Meire F, Delpierre I, Brachet C, Roulez F, Van Nechel C, Depasse F, Christophe C, Menten B, De Baere E. Nonsyndromic bilateral and unilateral optic nerve aplasia: first familial occurrence and potential implication of CYP26A1 and CYP26C1 genes. Mol Vis. 2011;17:2072-9. PMID: 21850183.
Borman AD, Davidson AE, O'Sullivan J, Thompson DA, Robson AG, De Baere E, Black GC, Webster AR, Holder GE, Leroy BP, Manson FD, Moore AT. Childhood-onset autosomal recessive bestrophinopathy. Arch Ophthalmol. 2011 Aug;129(8):1088-93. doi: 10.1001/archophthalmol.2011.197. PMID: 21825197.
Decock CE, Shah AD, Delaey C, Forsyth R, Bauters W, Kestelyn P, De Baere E, Claerhout I. Increased levator muscle function by supramaximal resection in patients with blepharophimosis-ptosis-epicanthus inversus syndrome. Arch Ophthalmol. 2011 Aug;129(8):1018-22. doi: 10.1001/archophthalmol.2011.218. PMID: 21825186.
Gorlova O, Martin JE, Rueda B, Koeleman BP, Ying J, Teruel M, Diaz-Gallo LM, Broen JC, Vonk MC, Simeon CP, Alizadeh BZ, Coenen MJ, Voskuyl AE, Schuerwegh AJ, van Riel PL, Vanthuyne M, van 't Slot R, Italiaander A, Ophoff RA, Hunzelmann N, Fonollosa V, Ortego-Centeno N, González-Gay MA, García-Hernández FJ, González-Escribano MF, Airo P, van Laar J, Worthington J, Hesselstrand R, Smith V, de Keyser F, Houssiau F, Chee MM, Madhok R, Shiels PG, Westhovens R, Kreuter A, De Baere E, Witte T, Padyukov L, Nordin A, Scorza R, Lunardi C, Lie BA, Hoffmann-Vold AM, Palm O, García de la Peña P, Carreira P; Spanish Scleroderma Group, Varga J, Hinchcliff M, Lee AT, Gourh P, Amos CI, Wigley FM, Hummers LK, Nelson JL, Riemekasten G, Herrick A, Beretta L, Fonseca C, Denton CP, Gregersen PK, Agarwal S, Assassi S, Tan FK, Arnett FC, Radstake TR, Mayes MD, Martin J. Identification of novel genetic markers associated with clinical phenotypes of systemic sclerosis through a genome-wide association strategy. PLoS Genet. 2011 Jul;7(7):e1002178. doi: 10.1371/journal.pgen.1002178. Erratum in: PLoS Genet. 2011 Aug;7(8). doi:10.1371/annotation/3aeebb2e-64e5-4548-8d65-1f2d5dfeb073. PLoS Genet. 2011 Aug;7(8). doi:10.1371/annotation/7a52649c-0942-4bd8-a5d3-3cdacca03cd8. Hummers, J [removed]. PMID: 21779181.
Graziadio C, de Moraes FN, Rosa RF, Zen PR, Travi GM, Waldman C, Medina CT, De Baere E, Paskulin GA. Blepharophimosis-ptosis-epicanthus inversus syndrome. Pediatr Int. 2011 Jun;53(3):390-2. doi: 10.1111/j.1442-200X.2010.03223.x. PMID: 21696507.
Berghmans LV, de Mendonça RH, Coppieters F, de Oliveira Maia O Jr, Takahashi WY, Lissens W, De Baere E, Leroy BP. Discordance for retinitis pigmentosa in two monozygotic twin pairs. Retina. 2011 Jun;31(6):1164-9. doi: 10.1097/IAE.0b013e3181fbcf2b. PMID: 21283054.
Weisschuh N, De Baere E, Wissinger B, Tümer Z. Clinical utility gene card for: Axenfeld-Rieger syndrome. Eur J Hum Genet. 2011 Mar;19(3). doi: 10.1038/ejhg.2010.163. PMID: 20940740.
Estrada-Cuzcano A, Koenekoop RK, Coppieters F, Kohl S, Lopez I, Collin RW, De Baere EB, Roeleveld D, Marek J, Bernd A, Rohrschneider K, van den Born LI, Meire F, Maumenee IH, Jacobson SG, Hoyng CB, Zrenner E, Cremers FP, den Hollander AI. IQCB1 mutations in patients with leber congenital amaurosis. Invest Ophthalmol Vis Sci. 2011 Feb 11;52(2):834-9. doi: 10.1167/iovs.10-5221. PMID: 20881296.
D’haene B, Meire F, Claerhout I, Kroes HY, Plomp A, Arens YH, de Ravel T, Casteels I, De Jaegere S, Hooghe S, Wuyts W, van den Ende J, Roulez F, Veenstra-Knol HE, Oldenburg RA, Giltay J, Verheij JB, de Faber JT, Menten B, De Paepe A, Kestelyn P, Leroy BP, De Baere E. Expanding the spectrum of FOXC1 and PITX2 mutations and copy number changes in patients with anterior segment malformations. Invest Ophthalmol Vis Sci. 2011 Jan 21;52(1):324-33. doi: 10.1167/iovs.10-5309. PMID: 20881294.
Coppieters F, Lefever S, Leroy BP, De Baere E. CEP290, a gene with many faces: mutation overview and presentation of CEP290base. Hum Mutat. 2010 Oct;31(10):1097-108. doi: 10.1002/humu.21337. Review. PMID: 20690115.
Coppieters F, Casteels I, Meire F, De Jaegere S, Hooghe S, van Regemorter N, Van Esch H, Matuleviciene A, Nunes L, Meersschaut V, Walraedt S, Standaert L, Coucke P, Hoeben H, Kroes HY, Vande Walle J, de Ravel T, Leroy BP, De Baere E. Genetic screening of LCA in Belgium: predominance of CEP290 and identification of potential modifier alleles in AHI1 of CEP290-related phenotypes. Hum Mutat. 2010 Oct;31(10):E1709-66. doi: 10.1002/humu.21336. PMID: 20683928.
Radstake TR, Gorlova O, Rueda B, Martin JE, Alizadeh BZ, Palomino-Morales R, Coenen MJ, Vonk MC, Voskuyl AE, Schuerwegh AJ, Broen JC, van Riel PL, van 't Slot R, Italiaander A, Ophoff RA, Riemekasten G, Hunzelmann N, Simeon CP, Ortego-Centeno N, González-Gay MA, González-Escribano MF; Spanish Scleroderma Group, Airo P, van Laar J, Herrick A, Worthington J, Hesselstrand R, Smith V, de Keyser F, Houssiau F, Chee MM, Madhok R, Shiels P, Westhovens R, Kreuter A, Kiener H, De Baere E, Witte T, Padykov L, Klareskog L, Beretta L, Scorza R, Lie BA, Hoffmann-Vold AM, Carreira P, Varga J, Hinchcliff M, Gregersen PK, Lee AT, Ying J, Han Y, Weng SF, Amos CI, Wigley FM, Hummers L, Nelson JL, Agarwal SK, Assassi S, Gourh P, Tan FK, Koeleman BP, Arnett FC, Martin J, Mayes MD. Genome-wide association study of systemic sclerosis identifies CD247 as a new susceptibility locus. Nat Genet. 2010 May;42(5):426-9. doi: 10.1038/ng.565. PMID: 20383147.
D’haene B, Hellemans J, Craen M, De Schepper J, Devriendt K, Fryns JP, Keymolen K, Debals E, de Klein A, de Jong EM, Segers K, De Paepe A, Mortier G, Vandesompele J, De Baere E. Improved molecular diagnostics of idiopathic short stature and allied disorders: quantitative polymerase chain reaction-based copy number profiling of SHOX and pseudoautosomal region 1. J Clin Endocrinol Metab. 2010 Jun;95(6):3010-8. doi: 10.1210/jc.2009-2218. PMID: 20375215.
Benayoun BA, Caburet S, Dipietromaria A, Georges A, D’haene B, Pandaranayaka PJ, L'Hôte D, Todeschini AL, Krishnaswamy S, Fellous M, De Baere E, Veitia RA. Functional exploration of the adult ovarian granulosa cell tumor-associated somatic FOXL2 mutation p.Cys134Trp (c.402C>G). PLoS One. 2010 Jan 20;5(1):e8789. doi: 10.1371/journal.pone.0008789. PMID: 20098707.
De Baere E, Fellous M, Veitia RA. The transcription factor FOXL2 in ovarian function and dysfunction. Folia Histochem Cytobiol. 2009;47(5):S43-9. doi: 10.2478/v10042-009-0062-7. Review. PMID: 20067892.
Shkalim V, Baris HN, Gal G, Gleiss R, Calderon S, Wessels M, Maat-Kievit A, Menten B, De Baere E, Hennekam RC, Schirmacher A, Bale S, Shohat M, Willems PJ. Autosomal dominant syndrome of mental retardation, hypotelorism, and cleft palate resembling Schilbach-Rott syndrome. Am J Med Genet A. 2009 Dec;149A(12):2700-5. doi: 10.1002/ajmg.a.33095. PMID: 19921646.
Audo I, Kohl S, Leroy BP, Munier FL, Guillonneau X, Mohand-Saïd S, Bujakowska K, Nandrot EF, Lorenz B, Preising M, Kellner U, Renner AB, Bernd A, Antonio A, Moskova-Doumanova V, Lancelot ME, Poloschek CM, Drumare I, Defoort-Dhellemmes S, Wissinger B, Léveillard T, Hamel CP, Schorderet DF, De Baere E, Berger W, Jacobson SG, Zrenner E, Sahel JA, Bhattacharya SS, Zeitz C. TRPM1 is mutated in patients with autosomal-recessive complete congenital stationary night blindness. Am J Hum Genet. 2009 Nov;85(5):720-9. doi: 10.1016/j.ajhg.2009.10.013. PMID: 19896113.
Maguire AM, High KA, Auricchio A, Wright JF, Pierce EA, Testa F, Mingozzi F, Bennicelli JL, Ying GS, Rossi S, Fulton A, Marshall KA, Banfi S, Chung DC, Morgan JI, Hauck B, Zelenaia O, Zhu X, Raffini L, Coppieters F, De Baere E, Shindler KS, Volpe NJ, Surace EM, Acerra C, Lyubarsky A, Redmond TM, Stone E, Sun J, McDonnell JW, Leroy BP, Simonelli F, Bennett J. Age-dependent effects of RPE65 gene therapy for Leber's congenital amaurosis: a phase 1 dose-escalation trial. Lancet. 2009 Nov 7;374(9701):1597-605. doi: 10.1016/S0140-6736(09)61836-5. Erratum in: Lancet. 2010 Jan 2;375(9708):30. PMID: 19854499.
Méduri G, Bachelot A, Duflos C, Bständig B, Poirot C, Genestie C, Veitia R, De Baere E, Touraine P. FOXL2 mutations lead to different ovarian phenotypes in BPES patients: Case Report. Hum Reprod. 2010 Jan;25(1):235-43. doi: 10.1093/humrep/dep355. PMID: 19819892.
Zeitz C, Labs S, Lorenz B, Forster U, Uksti J, Kroes HY, De Baere E, Leroy BP, Cremers FP, Wittmer M, van Genderen MM, Sahel JA, Audo I, Poloschek CM, Mohand-Saïd S, Fleischhauer JC, Hüffmeier U, Moskova-Doumanova V, Levin AV, Hamel CP, Leifert D, Munier FL, Schorderet DF, Zrenner E, Friedburg C, Wissinger B, Kohl S, Berger W. Genotyping microarray for CSNB-associated genes. Invest Ophthalmol Vis Sci. 2009 Dec;50(12):5919-26. doi: 10.1167/iovs.09-3548. PMID: 19578023.
Riise R, D’haene B, De Baere E, Grønskov K, Brøndum-Nielsen K. Rieger syndrome is not associated with PAX6 deletion: a correction to Acta Ophthalmol Scand 2001: 79: 201-203. Acta Ophthalmol. 2009 Nov;87(8):923. doi: 10.1111/j.1755-3768.2009.01696.x. PMID: 19764918.
Thiadens AA, den Hollander AI, Roosing S, Nabuurs SB, Zekveld-Vroon RC, Collin RW, De Baere E, Koenekoop RK, van Schooneveld MJ, Strom TM, van Lith-Verhoeven JJ, Lotery AJ, van Moll-Ramirez N, Leroy BP, van den Born LI, Hoyng CB, Cremers FP, Klaver CC. Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders. Am J Hum Genet. 2009 Aug;85(2):240-7. doi: 10.1016/j.ajhg.2009.06.016. PMID: 19615668.
D’haene B, Attanasio C, Beysen D, Dostie J, Lemire E, Bouchard P, Field M, Jones K, Lorenz B, Menten B, Buysse K, Pattyn F, Friedli M, Ucla C, Rossier C, Wyss C, Speleman F, De Paepe A, Dekker J, Antonarakis SE, De Baere E. Disease-causing 7.4 kb cis-regulatory deletion disrupting conserved non-coding sequences and their interaction with the FOXL2 promotor: implications for mutation screening. PLoS Genet. 2009 Jun;5(6):e1000522. doi: 10.1371/journal.pgen.1000522. PMID: 19543368.
Benayoun BA, Batista F, Auer J, Dipietromaria A, L'Hôte D, De Baere E, Veitia RA. Positive and negative feedback regulates the transcription factor FOXL2 in response to cell stress: evidence for a regulatory imbalance induced by disease-causing mutations. Hum Mol Genet. 2009 Feb 15;18(4):632-44. doi: 10.1093/hmg/ddn389. PMID: 19010791.
Beysen D, De Paepe A, De Baere E. FOXL2 mutations and genomic rearrangements in BPES. Hum Mutat. 2009 Feb;30(2):158-69. doi: 10.1002/humu.20807. Review. PMID: 18726931.
Gijsbers AC, D’haene B, Hilhorst-Hofstee Y, Mannens M, Albrecht B, Seidel J, Witt DR, Maisenbacher MK, Loeys B, van Essen T, Bakker E, Hennekam R, Breuning MH, De Baere E, Ruivenkamp CA. Identification of copy number variants associated with BPES-like phenotypes. Hum Genet. 2008 Dec;124(5):489-98. doi: 10.1007/s00439-008-0574-9. PMID: 18953567.
Beysen D, De Jaegere S, Amor D, Bouchard P, Christin-Maitre S, Fellous M, Touraine P, Grix AW, Hennekam R, Meire F, Oyen N, Wilson LC, Barel D, Clayton-Smith J, de Ravel T, Decock C, Delbeke P, Ensenauer R, Ebinger F, Gillessen-Kaesbach G, Hendriks Y, Kimonis V, Laframboise R, Laissue P, Leppig K, Leroy BP, Miller DT, Mowat D, Neumann L, Plomp A, Van Regemorter N, Wieczorek D, Veitia RA, De Paepe A, De Baere E. Identification of 34 novel and 56 known FOXL2 mutations in patients with Blepharophimosis syndrome. Hum Mutat. 2008 Nov;29(11):E205-19. doi: 10.1002/humu.20819. PMID: 18642388.
Nallathambi J, Neethirajan G, Usha K, Jitendra J, De Baere E, Sundaresan P. FOXL2 mutations in Indian families with blepharophimosis-ptosis-epicanthus inversus syndrome. J Genet. 2007 Aug;86(2):165-8. PMID: 17968144.
Beysen D, Moumné L, Veitia R, Peters H, Leroy BP, De Paepe A, De Baere E. Missense mutations in the forkhead domain of FOXL2 lead to subcellular mislocalization, protein aggregation and impaired transactivation. Hum Mol Genet. 2008 Jul 1;17(13):2030-8. doi: 10.1093/hmg/ddn100. PMID: 18372316.
Decaestecker K, Philibert P, De Baere E, Hoebeke P, Kaufman JM, Sultan C, T'Sjoen G. A novel mutation c.118delA in exon 1 of the androgen receptor gene resulting in complete androgen insensitivity syndrome within a large family. Fertil Steril. 2008 May;89(5):1260.e3-7. PMID: 17714709.
Coppieters F, Leroy BP, Beysen D, Hellemans J, De Bosscher K, Haegeman G, Robberecht K, Wuyts W, Coucke PJ, De Baere E. Recurrent mutation in the first zinc finger of the orphan nuclear receptor NR2E3 causes autosomal dominant retinitis pigmentosa. Am J Hum Genet. 2007 Jul;81(1):147-57. PMID: 17564971.
Nallathambi J, Moumné L, De Baere E, Beysen D, Usha K, Sundaresan P, Veitia RA. A novel polyalanine expansion in FOXL2: the first evidence for a recessive form of the blepharophimosis syndrome (BPES) associated with ovarian dysfunction. Hum Genet. 2007 Mar;121(1):107-12. PMID: 17089161.
Cremers FP, Kimberling WJ, Külm M, de Brouwer AP, van Wijk E, te Brinke H, Cremers CW, Hoefsloot LH, Banfi S, Simonelli F, Fleischhauer JC, Berger W, Kelley PM, Haralambous E, Bitner-Glindzicz M, Webster AR, Saihan Z, De Baere E, Leroy BP, Silvestri G, McKay GJ, Koenekoop RK, Millan JM, Rosenberg T, Joensuu T, Sankila EM, Weil D, Weston MD, Wissinger B, Kremer H. Development of a genotyping microarray for Usher syndrome. J Med Genet. 2007 Feb;44(2):153-60. PMID: 16963483.
Yzer S, Leroy BP, De Baere E, de Ravel TJ, Zonneveld MN, Voesenek K, Kellner U, Ciriano JP, de Faber JT, Rohrschneider K, Roepman R, den Hollander AI, Cruysberg JR, Meire F, Casteels I, van Moll-Ramirez NG, Allikmets R, van den Born LI, Cremers FP. Microarray-based mutation detection and phenotypic characterization of patients with Leber congenital amaurosis. Invest Ophthalmol Vis Sci. 2006 Mar;47(3):1167-76. PMID: 16505055.
Baron D, Batista F, Chaffaux S, Cocquet J, Cotinot C, Cribiu E, De Baere E, Guiguen Y, Jaubert F, Pailhoux E, Pannetier M, Vaiman D, Vigier B, Veitia R, Fellous M. Foxl2 gene and the development of the ovary: a story about goat, mouse, fish and woman. Reprod Nutr Dev. 2005 May-Jun;45(3):377-82. Review. Erratum in: Reprod Nutr Dev. 2005 Nov-Dec;45(6):729. De Baeree, Elfride [corrected to De Baere, Elfride]. PMID: 15982462.
Beysen D, Raes J, Leroy BP, Lucassen A, Yates JR, Clayton-Smith J, Ilyina H, Brooks SS, Christin-Maitre S, Fellous M, Fryns JP, Kim JR, Lapunzina P, Lemyre E, Meire F, Messiaen LM, Oley C, Splitt M, Thomson J, Van de Peer Y, Veitia RA, De Paepe A, De Baere E. Deletions involving long-range conserved nongenic sequences upstream and downstream of FOXL2 as a novel disease-causing mechanism in blepharophimosis syndrome. Am J Hum Genet. 2005 Aug;77(2):205-18. PMID: 15962237.
De Baere E, Copelli S, Caburet S, Laissue P, Beysen D, Christin-Maitre S, Bouchard P, Veitia R, Fellous M. Premature ovarian failure and forkhead transcription factor FOXL2: blepharophimosis-ptosis-epicanthus inversus syndrome and ovarian dysfunction. Pediatr Endocrinol Rev. 2005 Jun;2(4):653-60. Review. PMID: 16208278.
Beysen D, Vandesompele J, Messiaen L, De Paepe A, De Baere E. The human FOXL2 mutation database. Hum Mutat. 2004 Sep;24(3):189-93. PMID: 15300845.
Cocquet J, De Baere E, Caburet S, Veitia RA. Compositional biases and polyalanine runs in humans. Genetics. 2003 Nov;165(3):1613-7. PMID: 14668408.
De Baere E, Beysen D, Oley C, Lorenz B, Cocquet J, De Sutter P, Devriendt K, Dixon M, Fellous M, Fryns JP, Garza A, Jonsrud C, Koivisto PA, Krause A, Leroy BP, Meire F, Plomp A, Van Maldergem L, De Paepe A, Veitia R, Messiaen L. FOXL2 and BPES: mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlation. Am J Hum Genet. 2003 Feb;72(2):478-87. PMID: 12529855.