Variabilité Génétique et Maladies Humaines

Homepage: fr.u-paris.fr

Alternate names: U 946, U946, UMRS 946, UMRS946

Parent institution: Université Paris Cité

ROR: 01pw9dq94

OpenAlex ID: I4405259074

Interleukin-36–Receptor Antagonist Deficiency and Generalized Pustular Psoriasis

2011 · Slaheddine Marrakchi, Philippe Guigue, et al. · New England Journal of Medicine · 1,016

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APOE and Alzheimer disease: a major gene with semi-dominant inheritance

2011 · E Genin, D Hannequin, et al. · Molecular Psychiatry · 755

A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma

2011 · Corine Bertolotto, Fabienne Lesueur, et al. · Nature · 555

Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer

2013 · Australian Cancer Study, Stig E Bojesen, et al. · Nature Genetics · 540

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A multi-stage genome-wide association study of bladder cancer identifies multiple susceptibility loci

2010 · Nathaniel Rothman, Montserrat Garcia-Closas, et al. · Nature Genetics · 484

Genome-wide association study identifies three loci associated with melanoma risk

2009 · D Timothy Bishop, Florence Demenais, et al. · Nature Genetics · 467

Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy

2016 · Suzanne Lesage, Valérie Drouet, et al. · The American Journal of Human Genetics · 462

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Variation in worldwide incidence of amyotrophic lateral sclerosis: a meta-analysis

2016 · Benoît Marin, Farid Boumédiene, et al. · International Journal of Epidemiology · 380

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Germline BAP1 Mutations Predispose to Renal Cell Carcinomas

2013 · Tatiana Popova, Lucie Hebert, et al. · The American Journal of Human Genetics · 293

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Guidelines for splicing analysis in molecular diagnosis derived from a set of 327 combined in silico/in vitro studies on BRCA1 and BRCA2 variants

2012 · Claude Houdayer, Virginie Caux-Moncoutier, et al. · Human Mutation · 264

HLA-A*31:01 and different types of carbamazepine-induced severe cutaneous adverse reactions: an international study and meta-analysis

2013 · E Genin, D-P Chen, et al. · The Pharmacogenomics Journal · 263

Genome-wide association study identifies three new melanoma susceptibility loci

2011 · Jennifer H Barrett, Mark M Iles, et al. · Nature Genetics · 242

Association of TALS Developmental Disorder with Defect in Minor Splicing Component U4atac snRNA

2011 · Patrick Edery, Charles Marcaillou, et al. · Science · 242

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Genome-wide association study of renal cell carcinoma identifies two susceptibility loci on 2p21 and 11q13.3

2010 · Mark P Purdue, Mattias Johansson, et al. · Nature Genetics · 240

DNA methylation in glioblastoma: impact on gene expression and clinical outcome

2010 · Amandine Etcheverry, Marc Aubry, et al. · BMC Genomics · 239

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Exposure to Diesel Motor Exhaust and Lung Cancer Risk in a Pooled Analysis from Case-Control Studies in Europe and Canada

2010 · Ann C. Olsson, Per Gustavsson, et al. · American Journal of Respiratory and Critical Care Medicine · 184

Genome-wide association study identifies multiple loci associated with bladder cancer risk

2013 · Jonine D. Figueroa, Yuanqing Ye, et al. · Human Molecular Genetics · 161

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Genome-wide association study identifies a new melanoma susceptibility locus at 1q21.3

2011 · Stuart MacGregor, Grant W Montgomery, et al. · Nature Genetics · 157

Association of MC1R Variants and Host Phenotypes With Melanoma Risk in CDKN2A Mutation Carriers: A GenoMEL Study

2010 · F. Demenais, H. Mohamdi, et al. · JNCI Journal of the National Cancer Institute · 130

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Genome-wide association study identifies multiple risk loci for renal cell carcinoma

2017 · Ghislaine Scelo, Mark P. Purdue, et al. · Nature Communications · 129

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Genome-wide association study of lung function decline in adults with and without asthma

2012 · Medea Imboden, Emmanuelle Bouzigon, et al. · Journal of Allergy and Clinical Immunology · 108

Gene-environment interactions in asthma and allergic diseases: Challenges and perspectives

2012 · Francine Kauffmann, Florence Demenais · Journal of Allergy and Clinical Immunology · 106

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Transient receptor potential genes, smoking, occupational exposures and cough in adults

2012 · Lidwien AM Smit, Manolis Kogevinas, et al. · Respiratory Research · 103

Prevalence of the E 318 K MITF germline mutation in Italian melanoma patients: associations with histological subtypes and family cancer history

2012 · P. Ghiorzo, L. Pastorino, et al. · Pigment Cell & Melanoma Research · 101

Association of Forced Vital Capacity with the Developmental Gene NCOR2

2016 · Cosetta Minelli, Charlotte H. Dean, et al. · PLoS ONE · 97

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Works count: 151

Citation count: 24,020