关注
Emmanuelle Genin
Emmanuelle Genin
Inserm, UMR1078, Brest
在 inserm.fr 的电子邮件经过验证
标题
引用次数
引用次数
年份
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
27312003
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
10662011
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
7752011
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
4022000
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
3412002
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
3402002
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
3232007
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
3162003
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
2612014
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
2432020
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
2162000
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
2132008
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
1662017
Missing heritability of complex diseases: case solved?
E Génin
Human genetics 139 (1), 103-113, 2020
1592020
Identifying modifier genes of monogenic disease: strategies and difficulties
E Génin, J Feingold, F Clerget-Darpoux
Human genetics 124, 357-368, 2008
1442008
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
1432006
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
1372016
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
1352009
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
1322011
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
1302004
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