Fondation Jean Dausset-CEPH

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#	Title	Journal	Year	Citations
1	A susceptibility locus for lung cancer maps to nicotinic acetylcholine receptor subunit genes on 15q25	Nature	2008	1,169
2	CARD15/NOD2 Mutational Analysis and Genotype-Phenotype Correlation in 612 Patients with Inflammatory Bowel Disease	American Journal of Human Genetics	2002	943
3	Genome sequence of the plant pathogen Ralstonia solanacearum	Nature	2002	866
4	Lung cancer susceptibility locus at 5p15.33	Nature Genetics	2008	514
5	A first-generation physical map of the human genome	Nature	1993	483
6	Genome-wide association study identifies three loci associated with melanoma risk	Nature Genetics	2009	422
7	Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1–like phenotype	Nature Genetics	2007	410
8	Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy	American Journal of Human Genetics	2016	333
9	Identification of 14 new glucokinase mutations and description of the clinical profile of 42 MODY-2 families	Diabetologia	1997	252
10	Genome-wide association study identifies three new melanoma susceptibility loci	Nature Genetics	2011	230
11	Mutational signatures reveal the dynamic interplay of risk factors and cellular processes during liver tumorigenesis	Nature Communications	2017	228
12	Genome-wide association meta-analysis of human longevity identifies a novel locus conferring survival beyond 90 years of age	Human Molecular Genetics	2014	227
13	Genome-wide association study of renal cell carcinoma identifies two susceptibility loci on 2p21 and 11q13.3	Nature Genetics	2011	220
14	A meta-analysis of genome-wide association studies identifies multiple longevity genes	Nature Communications	2019	214
15	Human Chromosomal Fragile Site FRA16B Is an Amplified AT-Rich Minisatellite Repeat	Cell	1997	182
16	Colorectal cancers in a new mouse model of familial adenomatous polyposis: influence of genetic and environmental modifiers	Laboratory Investigation	2004	167
17	HLA-DQ relative risks for coeliac disease in European populations: a study of the European Genetics Cluster on Coeliac Disease	Tissue Antigens	2004	166
18	A Genome-Wide Association Study of Upper Aerodigestive Tract Cancers Conducted within the INHANCE Consortium	PLoS Genetics	2011	158
19	Epigenetic regulation in murine offspring as a novel mechanism for transmaternal asthma protection induced by microbes	Journal of Allergy and Clinical Immunology	2011	157
20	Investigation of the fine structure of European populations with applications to disease association studies	European Journal of Human Genetics	2008	147
21	NRAS Mutation Is the Sole Recurrent Somatic Mutation in Large Congenital Melanocytic Nevi	Journal of Investigative Dermatology	2014	143
22	Cyclin A2/E1 activation defines a hepatocellular carcinoma subclass with a rearrangement signature of replication stress	Nature Communications	2018	118
23	A 3.9-Centimorgan-Resolution Human Single-Nucleotide Polymorphism Linkage Map and Screening Set	American Journal of Human Genetics	2003	112
24	Identifying modifier genes of monogenic disease: strategies and difficulties	Human Genetics	2008	103
25	Soluble HLA-G molecule	Human Immunology	1995	93
26	Germline mutation profile of theVHL gene in von Hippel-Lindau disease and in sporadic hemangioblastoma	Human Immunology	1998	89
27	Exhaustive screening of the 21-hydroxylase gene in a population of hyperandrogenic women	Human Genetics	1997	81
28	Genotype-phenotype correlation in von Hippel-Lindau families with renal lesions	Human Mutation	2004	81
29	Molecular and Computational Methods for the Detection of Microsatellite Instability in Cancer	Frontiers in Oncology	2018	81
30	Genome-wide association study of age-related macular degeneration identifies associated variants in the TNXB–FKBPL–NOTCH4 region of chromosome 6p21.3	Human Molecular Genetics	2012	80
31	A new dimension for the human genome project: towards comprehensive expression maps	Nature Genetics	1997	62
32	Intrinsic susceptibility to radiation-induced apoptosis of human lymphocyte subpopulations	International Journal of Radiation Oncology Biology Physics	2003	61
33	CARD4/NOD1 is not involved in inflammatory bowel disease	Gut	2003	57
34	Mouse Models of Neurofibromatosis 1 and 2	Neoplasia	2002	56
35	Magnetic cell sorting for enriching Schwann cells from adult mouse peripheral nerves	Journal of Neuroscience Methods	2003	56
36	Novel features of boundary cap cells revealed by the analysis of newly identified molecular markers	Glia	2009	55
37	The CALHM1 P86L Polymorphism is a Genetic Modifier of Age at Onset in Alzheimer's Disease: a Meta-Analysis Study	Journal of Alzheimer's Disease	2010	54
38	Heterogeneity of mesothelioma cell lines as defined by altered genomic structure and expression of theNF2 gene	Journal of Alzheimer's Disease	1998	53
39	Palimpsest: an R package for studying mutational and structural variant signatures along clonal evolution in cancer	Bioinformatics	2018	53
40	p16INK4A inactivation mechanisms in non-small-cell lung cancer patients occupationally exposed to asbestos	Lung Cancer	2010	50
41	HSP110T17 simplifies and improves the microsatellite instability testing in patients with colorectal cancer	Journal of Medical Genetics	2016	46
42	Similar Tumor Suppressor Gene Alteration Profiles in Asbestos-Induced Murine and Human Mesothelioma	Cell Cycle	2005	45
43	NOD2: a potential target for regulating liver injury	Laboratory Investigation	2008	41
44	Integrated Genomic Analysis Identifies Driver Genes and Cisplatin-Resistant Progenitor Phenotype in Pediatric Liver Cancer	Cancer Discovery	2021	41
45	Lack of association between human longevity and genetic polymorphisms in drug-metabolizing enzymes at the NAT2, GSTM1 and CYP2D6 loci	Human Genetics	1998	39
46	Quantifying the heritability of glioma using genome-wide complex trait analysis	Scientific Reports	2015	37
47	Identification of seven novel nucleotide variants in the hepatocyte nuclear factor-1? (TCF1) promoter region in MODY patients	Human Mutation	2000	36
48	Treatment of Schwannomas with an Oncolytic Recombinant Herpes Simplex Virus in Murine Models of Neurofibromatosis Type 2	Human Gene Therapy	2006	36
49	DNA methylation profiles distinguish different subtypes of gastroenteropancreatic neuroendocrine tumors	Epigenomics	2015	34
50	Evidence for the presence of the alternatively spliced HLA-G mRNA forms in human mononuclear cells from peripheral blood and umbilical cord blood	Human Immunology	1995	33

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