Anne-Louise Leutenegger

Identifiants chercheurs

IdHAL :

anne-louise-leutenegger

ORCID :

0000-0002-1302-4357

IdRef :

077796780

ResearcherID :

http://www.researcherid.com/rid/B-5597-2009

Présentation

Publications

Article dans une revue (26)

An AluYa5 Insertion in the 3'UTR of COL4A1 and Cerebral Small Vessel Disease Chaker Aloui,Lisa Neumann,Françoise Bergametti,Eric Sartori,Marc Herbreteauet al. JAMA Network Open, 2024, 7 (4), pp.e247034. ⟨10.1001/jamanetworkopen.2024.7034⟩ Article dans une revue hal-04563144v1
PSAP‐Genomic‐Regions: A Method Leveraging Population Data to Prioritize Coding and Non‐Coding Variants in Whole Genome Sequencing for Rare Disease Diagnosis Marie‐sophie Ogloblinsky,Ozvan Bocher,Chaker Aloui,Anne‐louise Leutenegger,Ozan Ozisiket al. Genetic Epidemiology, 2024, Online ahead of print. ⟨10.1002/gepi.22593⟩ Article dans une revue hal-04746483v1
Measuring the Efficiency of Purging by non-random Mating in Human Populations Romain Laurent,José Utge,Sophie Lafosse,Laure Gineau,Chan Leakhena Phoeunget al. Molecular Biology and Evolution, 2024, 41 (6), pp.msae094. ⟨10.1093/molbev/msae094⟩ Article dans une revue hal-04632944v1
Mutations in the non-coding RNU4ATAC gene affect the homeostasis and function of the Integrator complex Fatimat Almentina Ramos Shidi,Audric Cologne,Marion Delous,Alicia Besson,Audrey Putouxet al. Nucleic Acids Research, 2022, ⟨10.1093/nar/gkac1182⟩ Article dans une revue hal-03913654v1
Multiethnic genome-wide association study of differentiated thyroid cancer in the EPITHYR consortium Thérèse Truong,Fabienne Lesueur,Pierre-Emmanuel Sugier,Julie Guibon,Constance Xhaardet al. International Journal of Cancer, 2021, 148 (12), pp.2935-2946. ⟨10.1002/ijc.33488⟩ Article dans une revue hal-03288145v1
Clinical interpretation of variants identified in RNU4ATAC, a non-coding spliceosomal gene Clara Benoit-Pilven,Alicia Besson,Audrey Putoux,Claire Benetollo,Clément Saccaroet al. PLoS ONE, 2020, 15 (7), pp.e0235655. ⟨10.1371/journal.pone.0235655⟩ Article dans une revue inserm-02915106v1
Novel Chronic Mouse Model of Cerebral Cavernous Malformations Cécile Cardoso,Minh Arnould,Coralie de Luca,Cécile Otten,Salim Abdelilah-Seyfriedet al. Stroke, 2020, 51 (4), pp.1272-1278. ⟨10.1161/STROKEAHA.119.027207⟩ Article dans une revue hal-02613690v1
New insights into minor splicing-a transcriptomic analysis of cells derived from TALS patients Audric Cologne,Clara Benoit-Pilven,Alicia Besson,Audrey Putoux,Amandine Campan-Fournieret al. RNA, 2019, pp.1-21. ⟨10.1261/rna.071423.119⟩ Article dans une revue hal-02305628v1
Whole-Exome Sequencing in the Isolated Populations of Cilento from South Italy T. Nutile,D. Ruggiero,A. Herzig,A. Tirozzi,S. Nappoet al. Scientific Reports, 2019, 9 (1), pp.4059. ⟨10.1038/s41598-019-41022-6⟩ Article dans une revue hal-04278376v1
Whole-Exome Sequencing in the Isolated Populations of Cilento from South Italy T. Nutile,D. Ruggiero,A. Herzig,A. Tirozzi,S. Nappoet al. Scientific Reports, 2019, 9, pp.4059. ⟨10.1038/s41598-019-41022-6⟩ Article dans une revue hal-02151153v1
Strategies for phasing and imputation in a population isolate Anthony Francis Herzig,Teresa Nutile,Marie‐claude Babron,Marina Ciullo,Céline Bellenguezet al. Genetic Epidemiology, 2018, 42 (2), pp.201-213. ⟨10.1002/gepi.22109⟩ Article dans une revue hal-04278379v1
Detecting the dominance component of heritability in isolated and outbred human populations Anthony Francis Herzig,Teresa Nutile,Daniela Ruggiero,Marina Ciullo,Hervé Perdryet al. Scientific Reports, 2018, 8 (1), ⟨10.1038/s41598-018-36050-7⟩ Article dans une revue hal-02151167v1
Strategies for Phasing and Imputation in a Population Isolate Anthony Francis Herzig,Teresa Nutile,Marie-Claude Babron,Marina Ciullo,Céline Bellenguezet al. Genetic Epidemiology, 2017, Epub ahead of print. ⟨10.1002/gepi.22109⟩ Article dans une revue inserm-01645064v1
Six Novel Loci Associated with Circulating VEGF Levels Identified by a Meta-analysis of Genome-Wide Association Studies Seung Hoan Choi,Daniela Ruggiero,Rossella Sorice,Ci Song,Teresa Nutileet al. PLoS Genetics, 2016, 12 (2), pp.e1005874. ⟨10.1371/journal.pgen.1005874⟩ Article dans une revue hal-01708531v1
Variation in worldwide incidence of amyotrophic lateral sclerosis: a meta-analysis. Benoît Marin,Farid Boumédiène,Giancarlo Logroscino,Philippe Couratier,Marie-Claude Babronet al. International Journal of Epidemiology, 2016 Article dans une revue hal-01320274v1
Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy Suzanne Lesage,Valérie Drouet,Elisa Majounie,Vincent Deramecourt,Maxime Jacoupyet al. American Journal of Human Genetics, 2016, 98 (3), pp.500-513. ⟨10.1016/j.ajhg.2016.01.014⟩ Article dans une revue hal-01289266v1
Clinical and demographic factors and outcome of amyotrophic lateral sclerosis in relation to population ancestral origin. Benoît Marin,Giancarlo Logroscino,Farid Boumédiène,Anaïs Labrunie,Philippe Couratieret al. European Journal of Epidemiology, 2015 Article dans une revue hal-01217277v1
Inbreeding Coefficient Estimation with Dense SNP Data: Comparison of Strategies and Application to HapMap III Steven Gazal,Mourad Sahbatou,Hervé Perdry,Sébastien Letort,Emmanuelle Géninet al. Human Heredity, 2014, 77, pp.49 - 62. ⟨10.1159/000358224⟩ Article dans une revue inserm-01084018v1
FSuite: exploiting inbreeding in dense SNP chip and exome data. Steven Gazal,Mourad Sahbatou,Marie-Claude Babron,Emmanuelle Génin,Anne-Louise Leutenegger Bioinformatics, 2014, 30 (13), pp.1940-1. ⟨10.1093/bioinformatics/btu149⟩ Article dans une revue inserm-01023821v1
Association of TALS developmental disorder with defect in minor splicing component U4atac snRNA. Patrick Edery,Charles Marcaillou,Mourad Sahbatou,Audrey Labalme,Joëlle Chastanget al. Science, 2011, 332 (6026), pp.240-3. ⟨10.1126/science.1202205⟩ Article dans une revue hal-01017145v1
Parkinson's disease-related LRRK2 G2019S mutation results from independent mutational events in humans. Suzanne Lesage,Etienne Patin,Christel Condroyer,Anne-Louise Leutenegger,Ebba Lohmannet al. Human Molecular Genetics, 2010, 19 (10), pp.1998-2004. ⟨10.1093/hmg/ddq081⟩ Article dans une revue inserm-00522011v1
Comparative assessment of methods for estimating individual genome-wide homozygosity-by-descent from human genomic data. Ozren Polašek,Caroline Hayward,Céline Bellenguez,Veronique Vitart,Ivana Kolčićet al. BMC Genomics, 2010, 11 (1), pp.139. ⟨10.1186/1471-2164-11-139⟩ Article dans une revue inserm-00663772v1
LRRK2 exon 41 mutations in sporadic Parkinson disease in Europeans. Suzanne Lesage,Sabine Janin,Ebba Lohmann,Anne-Louise Leutenegger,Laurence Leclereet al. Archives of Neurology -Chigago-, 2007, 64 (3), pp.425-430 Article dans une revue hal-00194970v1
LRRK2 G2019S as a cause of Parkinson's disease in North African Arabs. Suzanne Lesage,Alexandra Dürr,Meriem Tazir,Ebba Lohmann,Anne-Louise Leuteneggeret al. New England Journal of Medicine, 2006, 354 (4), pp.422-3. ⟨10.1056/NEJMc055540⟩ Article dans une revue hal-00221453v1
Modeling the effect of a genetic factor for a complex trait in a simulated population. Mathieu Bourgey,Anne-Louise Leutenegger,Emmanuelle Cousin,Catherine Bourgain,Marie-Claude Babronet al. BMC Genetics, 2005, 6 Suppl 1, pp.S87. ⟨10.1186/1471-2156-6-S1-S87⟩ Article dans une revue inserm-00089272v1
Detection of susceptibility loci by genome-wide linkage analysis. Marie-Claude Babron,Catherine Bourgain,Anne-Louise Leutenegger,Françoise Clerget-Darpoux BMC Genetics, 2005, 6 Suppl 1, pp.S18. ⟨10.1186/1471-2156-6-S1-S18⟩ Article dans une revue inserm-00089254v1

Poster de conférence (5)

Knowledge graph to dissect genotype phenotype associations Florence Ghestem,Gaëlle Marenne,Emmanuelle Genin,Anne-Sophie Jannot,Anaïs Baudotet al. IGES 2025 - Annual Meeting on International Genetic Epidemiology Society, Aug 2025, Cologne, Germany. 2025 Poster de conférence hal-05333821v1
Phenotypic variability of CADASIL cerebral angiopathy in presence of the NOTCH3 p.R1231C mutation frequently observed in the European population Louis Lambert,Veronica Sandroni,Jessica Lebenberg,Teresa Nutile,Daniela Ruggieroet al. European Human Genetics Conference, Jun 2024, Berlin (DE), Germany Poster de conférence hal-04850620v1
White Matter Hyperintensities progression over 2 years in CADASIL is associated with age, sex, migraine status, initial hyperintensities volume and diastolic blood pressure: a longitudinal study in 214 patients Jessica Lebenberg,Louis Lambert,Anne-Louise Leutenegger,Mohamed Saichi,Ruiting Zhanget al. ESMRMB, Oct 2024, Barcelona, Spain Poster de conférence hal-04702611v1
Ethic differences in the incidence of Amyotrophic Lateral Sclerosis: a meta-analysis of population-based studies. Benoît Marin,Farid Boumédiène,Giancarlo Logroscino,Marie-Claude Babron,Anne-Louise Leuteneggeret al. The American Academy of neurology 6th Annual Meeting, Apr 2015, Washington DC, United States. Neurology, 84 (14 (Supplément P4)), pp.151 Poster de conférence hal-01224326v1
Ethnic differences in the phenotype and outcome of Amyotrophic Lateral Sclerosis: A meta-analysis of population-based studies Benoît Marin,Giancarlo Logroscino,Farid Boumédiène,Anaïs Labrunie,Marie-Claude Babronet al. The American Academy of neurology 67th Annual meeting, Apr 2015, Washington DC, United States. 84 (14 (Suppl P4)), pp.143, Neurology Poster de conférence hal-01224487v1