Anne-Louise Leutenegger

Thérèse Truong, Fabienne Lesueur, Pierre Emmanuel Sugier, Julie Guibon, Constance Xhaard, et al.. Multiethnic genome-wide association study of differentiated thyroid cancer in the EPITHYR consortium. International Journal of Cancer, Wiley, 2021, 148 (12), pp.2935-2946. ⟨10.1002/ijc.33488⟩. ⟨hal-03288145⟩

Clara Benoit-Pilven, Alicia Besson, Audrey Putoux, Claire Benetollo, Clément Saccaro, et al.. Clinical interpretation of variants identified in RNU4ATAC, a non-coding spliceosomal gene. PLoS ONE, Public Library of Science, 2020, 15 (7), pp.e0235655. ⟨10.1371/journal.pone.0235655⟩. ⟨inserm-02915106⟩

Cécile Cardoso, Minh Arnould, Coralie de Luca, Cécile Otten, Salim Abdelilah-Seyfried, et al.. Novel Chronic Mouse Model of Cerebral Cavernous Malformations. Stroke, American Heart Association, 2020, 51 (4), pp.1272-1278. ⟨10.1161/STROKEAHA.119.027207⟩. ⟨hal-02613690⟩

T. Nutile, D. Ruggiero, A. Herzig, A. Tirozzi, S. Nappo, et al.. Whole-Exome Sequencing in the Isolated Populations of Cilento from South Italy. Scientific Reports, Nature Publishing Group, 2019, 9, pp.4059. ⟨10.1038/s41598-019-41022-6⟩. ⟨hal-02151153⟩

Audric Cologne, Clara Benoit-Pilven, Alicia Besson, Audrey Putoux, Amandine Campan-Fournier, et al.. New insights into minor splicing-a transcriptomic analysis of cells derived from TALS patients. RNA, Cold Spring Harbor Laboratory Press, 2019, pp.1-21. ⟨10.1261/rna.071423.119⟩. ⟨hal-02305628⟩

Anthony Herzig, Teresa Nutile, Daniela Ruggiero, Marina Ciullo, Hervé Perdry, et al.. Detecting the dominance component of heritability in isolated and outbred human populations. Scientific Reports, Nature Publishing Group, 2018, 8 (1), ⟨10.1038/s41598-018-36050-7⟩. ⟨hal-02151167⟩

Anthony Herzig, Teresa Nutile, Marie-Claude Babron, Marina Ciullo, Céline Bellenguez, et al.. Strategies for Phasing and Imputation in a Population Isolate. Genetic Epidemiology, Wiley, 2017, Epub ahead of print. ⟨10.1002/gepi.22109⟩. ⟨inserm-01645064⟩

Seung Choi, Daniela Ruggiero, Rossella Sorice, Ci Song, Teresa Nutile, et al.. Six Novel Loci Associated with Circulating VEGF Levels Identified by a Meta-analysis of Genome-Wide Association Studies. PLoS Genetics, Public Library of Science, 2016, 12 (2), pp.e1005874. ⟨10.1371/journal.pgen.1005874⟩. ⟨hal-01708531⟩

Benoît Marin, Farid Boumédiène, Giancarlo Logroscino, Philippe Couratier, Marie-Claude Babron, et al.. Variation in worldwide incidence of amyotrophic lateral sclerosis: a meta-analysis.. International Journal of Epidemiology, Oxford University Press (OUP), 2016. ⟨hal-01320274⟩

Suzanne Lesage, Valérie Drouet, Elisa Majounie, Vincent Deramecourt, Maxime Jacoupy, et al.. Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy. American Journal of Human Genetics, Elsevier (Cell Press), 2016, 98 (3), pp.500-513. ⟨10.1016/j.ajhg.2016.01.014⟩. ⟨hal-01289266⟩

Benoît Marin, Giancarlo Logroscino, Farid Boumédiène, Anaïs Labrunie, Philippe Couratier, et al.. Clinical and demographic factors and outcome of amyotrophic lateral sclerosis in relation to population ancestral origin.. European Journal of Epidemiology, Springer Verlag, 2015. ⟨hal-01217277⟩

Steven Gazal, Mourad Sahbatou, Hervé Perdry, Sébastien Letort, Emmanuelle Génin, et al.. Inbreeding Coefficient Estimation with Dense SNP Data: Comparison of Strategies and Application to HapMap III. Human Heredity, Karger, 2014, 77, pp.49 - 62. ⟨10.1159/000358224⟩. ⟨inserm-01084018⟩

Steven Gazal, Mourad Sahbatou, Marie-Claude Babron, Emmanuelle Génin, Anne-Louise Leutenegger. FSuite: exploiting inbreeding in dense SNP chip and exome data.. Bioinformatics, Oxford University Press (OUP), 2014, 30 (13), pp.1940-1. ⟨10.1093/bioinformatics/btu149⟩. ⟨inserm-01023821⟩

Steven Gazal, Mourad Sahbatou, Marie-Claude Babron, Emmanuelle Génin, Anne-Louise Leutenegger. FSuite: exploiting inbreeding in dense SNP chip and exome data. Bioinformatics, Oxford University Press (OUP), 2014, 30, pp.1940 - 1941. ⟨10.1093/bioinformatics/btu149⟩. ⟨inserm-01085236v2⟩

Patrick Edery, Charles Marcaillou, Mourad Sahbatou, Audrey Labalme, Joelle Chastang, et al.. Association of TALS developmental disorder with defect in minor splicing component U4atac snRNA.. Science, American Association for the Advancement of Science (AAAS), 2011, 332 (6026), pp.240-3. ⟨10.1126/science.1202205⟩. ⟨hal-01017145⟩

Ozren Polašek, Caroline Hayward, Céline Bellenguez, Veronique Vitart, Ivana Kolčić, et al.. Comparative assessment of methods for estimating individual genome-wide homozygosity-by-descent from human genomic data.. BMC Genomics, BioMed Central, 2010, 11 (1), pp.139. ⟨10.1186/1471-2164-11-139⟩. ⟨inserm-00663772⟩

Suzanne Lesage, Etienne Patin, Christel Condroyer, Anne-Louise Leutenegger, Ebba Lohmann, et al.. Parkinson's disease-related LRRK2 G2019S mutation results from independent mutational events in humans.. Human Molecular Genetics, Oxford University Press (OUP), 2010, 19 (10), pp.1998-2004. ⟨10.1093/hmg/ddq081⟩. ⟨inserm-00522011⟩

Suzanne Lesage, Sabine Janin, Ebba Lohmann, Anne-Louise Leutenegger, Laurence Leclere, et al.. LRRK2 exon 41 mutations in sporadic Parkinson disease in Europeans.. Archives of Neurology -Chigago-, American Medical Association, 2007, 64 (3), pp.425-430. ⟨hal-00194970⟩

Suzanne Lesage, Alexandra Dürr, Meriem Tazir, Ebba Lohmann, Anne-Louise Leutenegger, et al.. LRRK2 G2019S as a cause of Parkinson's disease in North African Arabs.. New England Journal of Medicine, Massachusetts Medical Society, 2006, 354 (4), pp.422-3. ⟨10.1056/NEJMc055540⟩. ⟨hal-00221453⟩

Marie-Claude Babron, Catherine Bourgain, Anne-Louise Leutenegger, Françoise Clerget-Darpoux. Detection of susceptibility loci by genome-wide linkage analysis.. BMC Genetics, BioMed Central, 2005, 6 Suppl 1, pp.S18. ⟨10.1186/1471-2156-6-S1-S18⟩. ⟨inserm-00089254⟩

Mathieu Bourgey, Anne-Louise Leutenegger, Emmanuelle Cousin, Catherine Bourgain, Marie-Claude Babron, et al.. Modeling the effect of a genetic factor for a complex trait in a simulated population.. BMC Genetics, BioMed Central, 2005, 6 Suppl 1, pp.S87. ⟨10.1186/1471-2156-6-S1-S87⟩. ⟨inserm-00089272⟩

Benoît Marin, Farid Boumédiène, Giancarlo Logroscino, Marie-Claude Babron, Anne-Louise Leutenegger, et al.. Ethic differences in the incidence of Amyotrophic Lateral Sclerosis: a meta-analysis of population-based studies.. The American Academy of neurology 6th Annual Meeting, Apr 2015, Washington DC, United States. Neurology, 84 (14 (Supplément P4)), pp.151. ⟨hal-01224326⟩

Benoît Marin, Giancarlo Logroscino, Farid Boumédiène, Anaïs Labrunie, Marie-Claude Babron, et al.. Ethnic differences in the phenotype and outcome of Amyotrophic Lateral Sclerosis: A meta-analysis of population-based studies. The American Academy of neurology 67th Annual meeting, Apr 2015, Washington DC, United States. 84 (14 (Suppl P4)), pp.143, Neurology. ⟨hal-01224487⟩