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| 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, 2010 | 320 | 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 | 269 | 2001 |
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| 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 | 247 | 2003 |
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| 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 | 197 | 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 genetics 7 (7), e1002178, 2011 | 168 | 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 | 161 | 2009 |
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| 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 | 134 | 2005 |
| 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 | 132 | 2012 |
| 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 | 121 | 2012 |
| 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 |
| 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 | 106 | 2016 |
| 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 | 106 | 2011 |
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VEITIA Reiner A.Professor of Functional Genomics, Paris Diderot University. Editor In Chief of Clinical GeneticsVerified email at ijm.fr