|Age-dependent effects of RPE65 gene therapy for Leber's congenital amaurosis: a phase 1 dose-escalation trial|
AM Maguire, KA High, A Auricchio, JF Wright, EA Pierce, F Testa, ...
The Lancet 374 (9701), 1597-1605, 2009
|HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle|
MA Deardorff, M Bando, R Nakato, E Watrin, T Itoh, M Minamino, K Saitoh, ...
Nature 489 (7415), 313-317, 2012
|Genome-wide association study of systemic sclerosis identifies CD247 as a new susceptibility locus|
TRDJ Radstake, O Gorlova, B Rueda, JE Martin, BZ Alizadeh, ...
Nature genetics 42 (5), 426-429, 2010
|CEP290, a gene with many faces: mutation overview and presentation of CEP290base|
F Coppieters, S Lefever, BP Leroy, E De Baere
Human mutation 31 (10), 1097-1108, 2010
|Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype–phenotype correlation|
E De Baere, MJ Dixon, KW Small, EW Jabs, BP Leroy, K Devriendt, ...
Human molecular genetics 10 (15), 1591-1600, 2001
|Evolution and expression of FOXL2|
J Cocquet, E Pailhoux, F Jaubert, N Servel, X Xia, M Pannetier, ...
Journal of medical genetics 39 (12), 916-921, 2002
|FOXL2 and BPES: mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlation|
E De Baere, D Beysen, C Oley, B Lorenz, J Cocquet, P De Sutter, ...
The American Journal of Human Genetics 72 (2), 478-487, 2003
|TRPM1 is mutated in patients with autosomal-recessive complete congenital stationary night blindness|
I Audo, S Kohl, BP Leroy, FL Munier, X Guillonneau, S Mohand-Saïd, ...
The American Journal of Human Genetics 85 (5), 720-729, 2009
|Identification of novel genetic markers associated with clinical phenotypes of systemic sclerosis through a genome-wide association strategy|
O Gorlova, JE Martin, B Rueda, BPC Koeleman, J Ying, M Teruel, ...
PLoS Genet 7 (7), e1002178, 2011
|Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders|
AAHJ Thiadens, AI den Hollander, S Roosing, SB Nabuurs, ...
The American journal of human genetics 85 (2), 240-247, 2009
|Gender identity disorder in twins: a review of the case report literature|
G Heylens, G De Cuypere, KJ Zucker, C Schelfaut, E Elaut, HV Bossche, ...
The Journal of Sexual Medicine 9 (3), 751-757, 2012
|Structure, evolution and expression of the FOXL2 transcription unit|
J Cocquet, E De Baere, M Gareil, M Pannetier, X Xia, M Fellous, RA Veitia
Cytogenetic and genome research 101 (3-4), 206-211, 2003
|Genes associated with common variable immunodeficiency: one diagnosis to rule them all?|
DJA Bogaert, M Dullaers, BN Lambrecht, KY Vermaelen, E De Baere, ...
Journal of medical genetics 53 (9), 575-590, 2016
|Deletions involving long-range conserved nongenic sequences upstream and downstream of FOXL2 as a novel disease-causing mechanism in blepharophimosis syndrome|
D Beysen, J Raes, BP Leroy, A Lucassen, JRW Yates, J Clayton-Smith, ...
The American Journal of Human Genetics 77 (2), 205-218, 2005
|Mutations in PIGO, a member of the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation|
PM Krawitz, Y Murakami, J Hecht, U Krüger, SE Holder, GR Mortier, ...
The American Journal of Human Genetics 91 (1), 146-151, 2012
|Genetic screening of LCA in Belgium: predominance of CEP290 and identification of potential modifier alleles in AHI1 of CEP290‐related phenotypes|
F Coppieters, I Casteels, F Meire, S De Jaegere, S Hooghe, ...
Human mutation 31 (10), E1709-E1766, 2010
|FOXL2 mutations and genomic rearrangements in BPES|
D Beysen, A De Paepe, E De Baere
Human mutation 30 (2), 158-169, 2009
|Development of a genotyping microarray for Usher syndrome|
FPM Cremers, WJ Kimberling, M Külm, AP De Brouwer, E Van Wijk, ...
Journal of medical genetics 44 (2), 153-160, 2007
|IQCB1 mutations in patients with leber congenital amaurosis|
A Estrada-Cuzcano, RK Koenekoop, F Coppieters, S Kohl, I Lopez, ...
Investigative ophthalmology & visual science 52 (2), 834-839, 2011
|A recurrent polyalanine expansion in the transcription factor FOXL2 induces extensive nuclear and cytoplasmic protein aggregation|
S Caburet, A Demarez, L Moumne, M Fellous, E De Baere, RA Veitia
Journal of medical genetics 41 (12), 932-936, 2004