| 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 | 806 | 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 | 450 | 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 | 358 | 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 | 279 | 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 | 279 | 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 | 272 | 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 | 254 | 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 | 213 | 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 | 187 | 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 | 171 | 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 | 158 | 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 | 155 | 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 | 152 | 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 | 139 | 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 | 127 | 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 | 114 | 2010 |
| FOXL2 mutations and genomic rearrangements in BPES D Beysen, A De Paepe, E De Baere Human mutation 30 (2), 158-169, 2009 | 114 | 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 | 113 | 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 | 112 | 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 | 108 | 2004 |
VEITIA Reiner A.Professor, Université de Paris. Head François Jacob Institute, CEA. Editor In Chief Clinical GenetVerified email at ijm.fr
