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| 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 | 672 | 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 | 480 | 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 | 406 | 2010 |
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| 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 | 327 | 2001 |
| 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 | 294 | 2003 |
| Gender identity disorder in twins: a review of the case report literature G Heylens, G De Cuypere, KJ Zucker, C Schelfaut, E Elaut, ... The Journal of Sexual Medicine 9 (3), 751-757, 2012 | 287 | 2012 |
| 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 | 280 | 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 | 274 | 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 | 241 | 2009 |
| Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides R Sangermano, A Garanto, M Khan, EH Runhart, M Bauwens, NM Bax, ... Genetics in Medicine 21 (8), 1751-1760, 2019 | 188 | 2019 |
| 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 | 184 | 2003 |
| Familial Mediterranean fever mutations lift the obligatory requirement for microtubules in Pyrin inflammasome activation H Van Gorp, PHV Saavedra, NM de Vasconcelos, N Van Opdenbosch, ... Proceedings of the National Academy of Sciences 113 (50), 14384-14389, 2016 | 180 | 2016 |
| A nonsense mutation in PDE6H causes autosomal-recessive incomplete achromatopsia S Kohl, F Coppieters, F Meire, S Schaich, S Roosing, C Brennenstuhl, ... The American Journal of Human Genetics 91 (3), 527-532, 2012 | 178 | 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 | 176 | 2010 |
| 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 | 168 | 2012 |
| ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders: novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic … M Bauwens, A Garanto, R Sangermano, S Naessens, N Weisschuh, ... Genetics in Medicine 21 (8), 1761-1771, 2019 | 161 | 2019 |
| 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 | 155 | 2005 |
VEITIA Reiner A.Professor, Université de Paris. Head François Jacob Institute, CEA. Editor In Chief Clinical Genetijm.fr의 이메일 확인됨
