| Hypogonadotropic hypogonadism due to loss of function of the KiSS1-derived peptide receptor GPR54 N De Roux, E Genin, JC Carel, F Matsuda, JL Chaussain, E Milgrom Proceedings of the National Academy of Sciences 100 (19), 10972-10976, 2003 | 2731 | 2003 |
| Interleukin-36–receptor antagonist deficiency and generalized pustular psoriasis S Marrakchi, P Guigue, BR Renshaw, A Puel, XY Pei, S Fraitag, J Zribi, ... New England Journal of Medicine 365 (7), 620-628, 2011 | 1066 | 2011 |
| APOE and Alzheimer disease: a major gene with semi-dominant inheritance E Genin, D Hannequin, D Wallon, K Sleegers, M Hiltunen, O Combarros, ... Molecular psychiatry 16 (9), 903-907, 2011 | 775 | 2011 |
| Rapid Progression to AIDS in HIV+ Individuals with a Structural Variant of the Chemokine Receptor CX3CR1 S Faure, L Meyer, D Costagliola, C Vaneensberghe, E Genin, B Autran, ... Science 287 (5461), 2274-2277, 2000 | 402 | 2000 |
| Inherited interleukin-12 deficiency: IL12B genotype and clinical phenotype of 13 patients from six kindreds C Picard, C Fieschi, F Altare, S Al-Jumaah, S Al-Hajjar, J Feinberg, ... The American Journal of Human Genetics 70 (2), 336-348, 2002 | 341 | 2002 |
| Absence of association of thrombophilia polymorphisms with intrauterine growth restriction C Infante-Rivard, GE Rivard, WV Yotov, E Génin, M Guiguet, C Weinberg, ... New England Journal of Medicine 347 (1), 19-25, 2002 | 340 | 2002 |
| Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome L Baala, S Audollent, J Martinovic, C Ozilou, MC Babron, ... The American Journal of Human Genetics 81 (1), 170-179, 2007 | 323 | 2007 |
| Estimation of the inbreeding coefficient through use of genomic data AL Leutenegger, B Prum, E Génin, C Verny, A Lemainque, ... The American Journal of Human Genetics 73 (3), 516-523, 2003 | 316 | 2003 |
| HLA-A* 31: 01 and different types of carbamazepine-induced severe cutaneous adverse reactions: an international study and meta-analysis E Genin, DP Chen, SI Hung, P Sekula, M Schumacher, PY Chang, ... The pharmacogenomics journal 14 (3), 281-288, 2014 | 261 | 2014 |
| Whole exome sequencing study identifies novel rare and common Alzheimer’s-Associated variants involved in immune response and transcriptional regulation JC Bis, X Jian, BW Kunkle, Y Chen, KL Hamilton-Nelson, WS Bush, ... Molecular psychiatry 25 (8), 1859-1875, 2020 | 243 | 2020 |
| Molecular basis of variant pseudo-hurler polydystrophy (mucolipidosis IIIC) A Raas-Rothschild, V Cormier-Daire, M Bao, E Genin, R Salomon, ... The Journal of clinical investigation 105 (5), 673-681, 2000 | 216 | 2000 |
| Investigation of the fine structure of European populations with applications to disease association studies SC Heath, IG Gut, P Brennan, JD McKay, V Bencko, E Fabianova, ... European Journal of Human Genetics 16 (12), 1413-1429, 2008 | 213 | 2008 |
| Contribution to Alzheimer's disease risk of rare variants in TREM2, SORL1, and ABCA7 in 1779 cases and 1273 controls C Bellenguez, C Charbonnier, B Grenier-Boley, O Quenez, K Le Guennec, ... Neurobiology of aging 59, 220. e1-220. e9, 2017 | 166 | 2017 |
| Missing heritability of complex diseases: case solved? E Génin Human genetics 139 (1), 103-113, 2020 | 159 | 2020 |
| Identifying modifier genes of monogenic disease: strategies and difficulties E Génin, J Feingold, F Clerget-Darpoux Human genetics 124, 357-368, 2008 | 144 | 2008 |
| Clinical and molecular genetic features of ARC syndrome P Gissen, L Tee, CA Johnson, E Genin, A Caliebe, D Chitayat, ... Human genetics 120, 396-409, 2006 | 143 | 2006 |
| SORL1 rare variants: a major risk factor for familial early-onset Alzheimer’s disease G Nicolas, C Charbonnier, D Wallon, O Quenez, C Bellenguez, ... Molecular psychiatry 21 (6), 831-836, 2016 | 137 | 2016 |
| The very low penetrance of cystic fibrosis for the R117H mutation: a reappraisal for genetic counselling and newborn screening C Thauvin-Robinet, A Munck, F Huet, E Génin, G Bellis, E Gautier, ... Journal of medical genetics 46 (11), 752-758, 2009 | 135 | 2009 |
| Genome-wide association study of Stevens-Johnson syndrome and toxic epidermal necrolysis in Europe E Génin, M Schumacher, JC Roujeau, L Naldi, Y Liss, R Kazma, P Sekula, ... Orphanet journal of rare diseases 6, 1-10, 2011 | 132 | 2011 |
| Estimating the age of rare disease mutations: the example of Triple-A syndrome E Genin, A Tullio-Pelet, F Begeot, S Lyonnet, L Abel Journal of Medical Genetics 41 (6), 445-449, 2004 | 130 | 2004 |
