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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 | 315 | 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 | 267 | 2001 |
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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 | 196 | 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 | 126 | 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 | 119 | 2012 |
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| 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 | 98 | 2016 |
VEITIA Reiner A.Professor of Functional Genomics, Paris Diderot University. Editor In Chief of Clinical GeneticsVerified email at ijm.fr