2021
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 tounravel complex strucutral variants of cEP78 leading to Cone-Rod Dystrophy and Hearing Loss. Front. Cell Dev. Biol. 2021. doi: 10.3389/fcell.2021.664317.
2020
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 4 106 (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. PubMed 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. PubMed 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. PubMed PMID: 31992737; PubMed Central PMCID: PMC6987234.
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. PubMed PMID: 31721179; PubMed Central PMCID: PMC7064892.
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. PubMed 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. PubMed 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. PubMed PMID: 31992737; PubMed Central PMCID: PMC6987234.
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. PubMed PMID: 31721179; PubMed Central PMCID: PMC7064892.
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. PubMed 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. PubMed 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. PubMed 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. PubMed 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. PubMed 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. PubMed 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. PubMed 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. PubMed 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. PubMed 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. PubMed 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. PubMed 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. PubMed 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. PubMed 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. PubMed 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. PubMed 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. PubMed 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. PubMed 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. PubMed 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. PubMed 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. PubMed 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. PubMed 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. PubMed 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. PubMed 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. PubMed 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. PubMed 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. PubMed 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. PubMed 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. PubMed 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] PubMed 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. PubMed PMID: 29970927; PubMed Central PMCID: PMC6138744.
Van Heetvelde M, Van Bockstal M, Poppe B, Lambein K, Rosseel T, Atanesyan L, Deforce D, Van Den Berghe I, De Leeneer K, Van Dorpe J, Vral A, Claes KBM. Accurate detection and quantification of epigenetic and genetic second hits in BRCA1 and BRCA2-associated hereditary breast and ovarian cancer reveals multiple co-acting second hits. Cancer Lett. 2018 Jul 1;425:125-133. doi:10.1016/j.canlet.2018.03.026. PubMed PMID: 29580810.
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. PubMed 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. PubMed 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. PubMed 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. PubMed 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] PubMed 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. PubMed PMID: 29970927; PubMed Central PMCID: PMC6138744.
Van Heetvelde M, Van Bockstal M, Poppe B, Lambein K, Rosseel T, Atanesyan L, Deforce D, Van Den Berghe I, De Leeneer K, Van Dorpe J, Vral A, Claes KBM. Accurate detection and quantification of epigenetic and genetic second hits in BRCA1 and BRCA2-associated hereditary breast and ovarian cancer reveals multiple co-acting second hits. Cancer Lett. 2018 Jul 1;425:125-133. doi:10.1016/j.canlet.2018.03.026. PubMed PMID: 29580810.
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. PubMed 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. PubMed 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 Pubmed 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. PubMed 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. PubMed 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. PubMed 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. PubMed 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. PubMed 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. PubMed 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. Pubmed 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. PubMed 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. PubMed 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. PubMed 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. PubMed 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. PubMed 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 Pubmed 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. PubMed 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. PubMed 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. PubMed 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. PubMed 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. PubMed 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. PubMed 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. Pubmed 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. PubMed 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. PubMed 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. PubMed 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. PubMed 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. PubMed 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. PubMed 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. PubMed 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. PubMed 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. PubMed 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. PubMed 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. PubMed 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. PubMed 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. PubMed 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. PubMed 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. PubMed 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. PubMed 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. PubMed 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. PubMed 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. PubMed 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. PubMed 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. PubMed 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. PubMed 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. PubMed 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. PubMed 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. PubMed 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. PubMed 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. PubMed 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. PubMed 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. PubMed 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. PubMed 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. PubMed 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. PubMed 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. PubMed 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. PubMed 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. PubMed 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. PubMed 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. PubMed 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. PubMed 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/ PubMed 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. PubMed 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. PubMed 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. PubMed 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. PubMed 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. PubMed 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. PubMed 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. PubMed 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. PubMed 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. PubMed 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. PubMed 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. PubMed 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. PubMed 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. PubMed 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. PubMed 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/ PubMed 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. PubMed 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. PubMed PMID: 25346251.
2014
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. PubMed 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. PubMed 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. PubMed 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. PubMed 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. PubMed 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. PubMed 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. PubMed 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. PubMed 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. PubMed PMID: 24555714.
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. PubMed 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. PubMed 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. PubMed 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. PubMed 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. PubMed 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. PubMed 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. PubMed 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. PubMed PMID: 24555714.
<2013
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. PubMed 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]. PubMed 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. PubMed 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. PubMed 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. PubMed 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. PubMed 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. PubMed 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. PubMed 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. PubMed 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. PubMed 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. PubMed 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. PubMed 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. PubMed 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. PubMed 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. PubMed 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. PubMed 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. PubMed 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. PubMed 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. PubMed 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. PubMed 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. PubMed 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. PubMed 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. PubMed 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. PubMed 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. PubMed 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. PubMed 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]. PubMed 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. PubMed 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. PubMed 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. PubMed 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. PubMed 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. PubMed 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. PubMed 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. PubMed 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. PubMed 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. PubMed 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. PubMed 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. PubMed 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. PubMed 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.2009.10.013PubMed 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. PubMed 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. PubMed PMID: 19819892.
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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. PubMed PMID: 19764918.
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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. PubMed PMID: 19010791.
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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. PubMed 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. PubMed 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. PubMed 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. PubMed 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. PubMed 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. PubMed 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. PubMed 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. PubMed 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. PubMed 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]. PubMed 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. PubMed 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. PubMed 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. PubMed 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. PubMed 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. PubMed PMID: 12529855.
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]. PubMed 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. PubMed 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. PubMed 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. PubMed 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. PubMed 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. PubMed 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. PubMed 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. PubMed 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. PubMed 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. PubMed 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. PubMed 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. PubMed 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. PubMed 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. PubMed 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. PubMed 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. PubMed 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. PubMed 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. PubMed 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. PubMed 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. PubMed 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. PubMed 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. PubMed 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. PubMed 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. PubMed 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. PubMed PMID: 21825186.
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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. PubMed 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. PubMed 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. PubMed 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. PubMed 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. PubMed 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. PubMed 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. PubMed 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. PubMed 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. PubMed 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. PubMed 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. PubMed 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. PubMed 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.2009.10.013PubMed 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. PubMed 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. PubMed 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. PubMed 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. PubMed 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. PubMed 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. PubMed 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. PubMed 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. PubMed 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. PubMed 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. PubMed 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. PubMed 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. PubMed 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. PubMed 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. PubMed 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. PubMed 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. PubMed 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. PubMed 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]. PubMed 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. PubMed 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. PubMed 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. PubMed 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. PubMed 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. PubMed PMID: 12529855.