Science Explorer Back to mapMap
Discussion
Institution · Genethon (France)

Most cited papers from Genethon (France)

Genethon (France)

What are the most cited papers from Genethon (France)?

The most cited paper from Genethon (France) is "Identification and characterization of a spinal muscular atrophy-determining gene" (Suzie Lefebvre, Lydie Bürglen, Sophie Reboullet et al., 1995), with 4,053 citations. Next come "A comprehensive genetic map of the human genome based on 5,264 microsatellites" (2,962) and "Mapping genomic loci implicates genes and synaptic biology in schizophrenia" (2,894).

Showing 50 of 60 papers. Every paper with more than 337 citations is listed.

Most cited papers, sortable by citations and release date
#Paper
1 Identification and characterization of a spinal muscular atrophy-determining gene Suzie Lefebvre, Lydie Bürglen, Sophie Reboullet et al. · Cell Open access 1995 4,053
2 A comprehensive genetic map of the human genome based on 5,264 microsatellites Colette Dib, Sabine Fauré, Cécile Fizames et al. · Nature Mar 1996 2,962
3 Mapping genomic loci implicates genes and synaptic biology in schizophrenia Vassily Vladimirovich Trubetskoy et al. · Nature Open access613 authors 8 Apr 2022 2,894
4 Notch3 mutations in CADASIL, a hereditary adult-onset condition causing stroke and dementia Anne Joutel, Christophe Corpechot, Anne Ducros et al. · Nature Oct 1996 2,086
5 The 1993–94 Généthon human genetic linkage map Gàbor Gyapay, Jean Morissette, Alain Vignal et al. · Nature Genetics Jun 1994 1,852
6 A second-generation linkage map of the human genome Jean Weissenbach, Gàbor Gyapay, Colette Dib et al. · Nature Oct 1992 1,698
7 A candidate gene for familial Mediterranean fever Alain Bernot et al. · Nature Genetics Sep 1997 1,567
8 Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy Gisèle Bonne, Marina Raffaele di Barletta, Shaïda Varnous et al. · Nature Genetics Mar 1999 1,362
9 Targeted Disruption of the Mouse Caspase 8 Gene Ablates Cell Death Induction by the TNF Receptors, Fas/Apo1, and DR3 and Is Lethal Prenatally Eugene E. Varfolomeev, Marcus Schuchmann, Victor Luria et al. · Immunity Open access Aug 1998 1,246
10 A missense mutation in the αB-crystallin chaperone gene causes a desmin-related myopathy Patrick Vicart, Anne Caron, Pascale Guicheney et al. · Nature Genetics Sep 1998 1,089
11 Lentiviral Hematopoietic Stem Cell Gene Therapy in Patients with Wiskott-Aldrich Syndrome Alessandro Aiuti et al. · Science Open access 12 Jul 2013 1,040
12 Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A Isabelle Richard, Odile Broux, Valéerie Allamand et al. · Cell Open access Apr 1995 1,004
13 Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2 Andrew Escayg, Bryan T. MacDonald, Miriam H. Meisler et al. · Nature Genetics Apr 2000 1,002
14 Prevalence of Serum IgG and Neutralizing Factors Against Adeno-Associated Virus (AAV) Types 1, 2, 5, 6, 8, and 9 in the Healthy Population: Implications for Gene Therapy Using AAV Vectors Sylvie Boutin, Virginie Monteilhet, Philippe Véron et al. · Human Gene Therapy 22 Jan 2010 971
15 Mapping of a susceptibility locus for Crohn's disease on chromosome 16 Jean‐Pierre Hugot, Pierre Laurent‐Puig, Corinne Gower‐Rousseau et al. · Nature Feb 1996 957
16 Pax7-expressing satellite cells are indispensable for adult skeletal muscle regeneration Ramkumar Sambasivan, Roseline Yao, Adrien Kissenpfennig et al. · Development 9 Aug 2011 949
17 Dynamics and Function of Langerhans Cells In Vivo Adrien Kissenpfennig, Sandrine Henri, Bertrand Dubois et al. · Immunity Open access May 2005 927
18 A novel mutation in the potassium channel gene KVLQT1 causes the Jervell and Lange-Nielsen cardioauditory syndrome Nathalie Neyroud, Frédérique Tesson, Isabelle Denjoy et al. · Nature Genetics Feb 1997 894
19 Emerging Issues in AAV-Mediated In Vivo Gene Therapy Pasqualina Colella, Giuseppe Ronzitti, Federico Mingozzi · Molecular Therapy — Methods & Clinical Development Open access Dec 2017 890
20 Interferon-γ –Receptor Deficiency in an Infant with Fatal Bacille Calmette–Guérin Infection Emmanuelle Jouanguy, Frédéric Altare, Salma Lamhamedi et al. · New England Journal of Medicine Open access 26 Dec 1996 883
21 An STS-Based Map of the Human Genome Thomas Jay Hudson et al. · Science 22 Dec 1995 777
22 First genetic evidence of GABAA receptor dysfunction in epilepsy: a mutation in the γ2-subunit gene Stéphanie Baulac, Gilles Huberfeld, Isabelle Gourfinkel‐An et al. · Nature Genetics May 2001 770
23 ER–phagosome fusion defines an MHC class I cross-presentation compartment in dendritic cells Pierre Guermonprez, Loredana Saveanu, Monique J. Kleijmeer et al. · Nature Sep 2003 749
24 A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B Rumaisa Bashir, Stephen L. Britton, Tom Strachan et al. · Nature Genetics Sep 1998 692
25 Strong clustering and stereotyped nature of Notch3 mutations in CADASIL patients Anne Joutel, Katayoun Vahedi, Christophe Corpechot et al. · The Lancet Nov 1997 687
26 Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy maps to chromosome 19q12 Elisabeth Tournier‐Lasserve, Anne Joutel, Judith Melki et al. · Nature Genetics Mar 1993 683
27 A human homologue of the Drosophila eyes absent gene underlies Branchio-Oto-Renal (BOR) syndrome and identifies a novel gene family Sonia Abdelhak, Vasiliki Kalatzis, Roland Heilig et al. · Nature Genetics Feb 1997 682
28 AAV Vector Immunogenicity in Humans: A Long Journey to Successful Gene Transfer Helena Costa Verdera, Klaudia Kuranda, Federico Mingozzi · Molecular Therapy Open access 9 Jan 2020 647
29 Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia Jamïlé Hazan, Núria Fonknechten, Delphine Mavel et al. · Nature Genetics Nov 1999 642
30 Close linkage of glucokinase locus on chromosome 7p to early-onset non-insulin-dependent diabetes mellitus Ph. Froguel, Martine Vaxillaire, Fang Sun et al. · Nature 12 Mar 1992 641
31 Mutations in the laminin α2–chain gene (LAMA2) cause merosin–deficient congenital muscular dystrophy A. Leclerc, Xu Zhang, Haluk Topaloğlu et al. · Nature Genetics Oct 1995 634
32 Dynamic Molecular Combing: Stretching the Whole Human Genome for High-Resolution Studies Xavier Michalet, Rosemary Ekong, Françoise Fougerousse et al. · Science 5 Sep 1997 615
33 Nonsense mutation in the glucokinase gene causes early-onset non-insulin-dependent diabetes mellitus Nathalie Vionnet, Markus P. Stoffel, Jun Takeda et al. · Nature Apr 1992 611
34 The Kinase Domain of Titin Controls Muscle Gene Expression and Protein Turnover Stephan C. Lange, Fengqing Xiang, Andrey R Yakovenko et al. · Science 31 Mar 2005 597
35 Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology Wouter van Rheenen et al. · Nature Genetics Open access282 authors Dec 2021 579
36 Homozygous Defects in LMNA, Encoding Lamin A/C Nuclear-Envelope Proteins, Cause Autosomal Recessive Axonal Neuropathy in Human (Charcot-Marie-Tooth Disorder Type 2) and Mouse Annachiara De Sandre‐Giovannoli, Malika Chaouch, Serguei V. Kozlov et al. · The American Journal of Human Genetics Open access Mar 2002 564
37 Mutations in the gene encoding mevalonate kinase cause hyper-IgD and periodic fever syndrome Joost P.H. Drenth, Laurence Cuisset, Gilles Grateau et al. · Nature Genetics Open access Jun 1999 558
38 A Comprehensive Human Linkage Map with Centimorgan Density Jeffrey Clark Murray et al. · Science 30 Sep 1994 537
39 Polyethylenimine-mediated gene delivery: a mechanistic study Antoine Kichler, Christian Leborgne, Emmanuel Coeytaux et al. · The Journal of Gene Medicine 2001 519
40 Intravenous Administration of Self-complementary AAV9 Enables Transgene Delivery to Adult Motor Neurons Sandra I. Duqué, Béatrice Joussemet, Christel Rivière et al. · Molecular Therapy Open access 14 Apr 2009 505
41 Rescue of Dystrophic Muscle Through U7 snRNA-Mediated Exon Skipping Aurélie Goyenvalle, Adeline Vulin, Françoise Fougerousse et al. · Science 5 Nov 2004 493
42 Tibial Muscular Dystrophy Is a Titinopathy Caused by Mutations in TTN, the Gene Encoding the Giant Skeletal-Muscle Protein Titin Peter Hackman, Anna Vihola, Henna Haravuori et al. · The American Journal of Human Genetics Open access Sep 2002 487
43 Mutations in CGI-58, the Gene Encoding a New Protein of the Esterase/Lipase/Thioesterase Subfamily, in Chanarin-Dorfman Syndrome Caroline Lefèvre, Florence Jobard, Frédéric A. Caux et al. · The American Journal of Human Genetics Open access Nov 2001 471
44 Safety and durability of effect of contralateral-eye administration of AAV2 gene therapy in patients with childhood-onset blindness caused by RPE65 mutations: a follow-on phase 1 trial Jean Bennett et al. · The Lancet Open access 2 Jul 2016 470
45 Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy Steven L. Roberds, France Leturcq, Valérie Allamand et al. · Cell Aug 1994 459
46 A radiation hybrid map of the human genome Gàbor Gyapay · Human Molecular Genetics Mar 1996 456
47 Cardiac myosin binding protein–C gene splice acceptor site mutation is associated with familial hypertrophic cardiomyopathy Gisèle Bonne, Lucie Carrier, Josiane Bercovici et al. · Nature Genetics Dec 1995 446
48 A first-generation physical map of the human genome Daniel Cohen, Ilya M. Chumakov, Jean Weissenbach · Nature Dec 1993 443
49 Genetic mapping of a susceptibility locus for insulin-dependent diabetes mellitus on chromosome llq Lara Hashimoto, C Habita, Jean-Paul Beressi et al. · Nature Sep 1994 394
50 Series of Exon-Skipping Events in the Elastic Spring Region of Titin as the Structural Basis for Myofibrillar Elastic Diversity Alexandra Freiburg, K Trombitás, Wolfgang Hell et al. · Circulation Research Open access 9 Jun 2000 393

Citations are OpenAlex's own counts, from its 2026-09-23 snapshot, so the ranking can differ from Google Scholar or Web of Science. A paper is listed for an institution when any of its authors gave it as an affiliation; retracted papers and papers whose citation count cannot be traced to citing works are left out, and a preprint and the article it became are shown once. Release dates are OpenAlex's: where a source gave only a month or a year, that is what is shown. How the lists are chosen.