Anne-Louise Leutenegger

Documents

Identifiants chercheurs

anne-louise-leutenegger
ResearcherId : B-5597-2009
IdRef : 077796780
0000-0002-1302-4357
Google Scholar : https://scholar.google.fr/citations?user=kmBnVWYAAAAJ&hl=fr

Présentation

Publications

	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 Putoux 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 Xhaard 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 Saccaro 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-Seyfried 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-Fournier 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. Nappo 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. Nappo Scientific Reports, 2019, 9, pp.4059. ⟨10.1038/s41598-019-41022-6⟩ Article dans une revue hal-02151153v1
	Detecting the dominance component of heritability in isolated and outbred human populations Anthony Francis Herzig , Teresa Nutile , Daniela Ruggiero , Marina Ciullo , Hervé Perdry 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 Bellenguez Genetic Epidemiology, 2018, 42 (2), pp.201-213. ⟨10.1002/gepi.22109⟩ Article dans une revue hal-04278379v1
	Strategies for Phasing and Imputation in a Population Isolate Anthony Francis Herzig , Teresa Nutile , Marie-Claude Babron , Marina Ciullo , Céline Bellenguez Genetic Epidemiology, 2017, Epub ahead of print. ⟨10.1002/gepi.22109⟩ Article dans une revue inserm-01645064v1
	Variation in worldwide incidence of amyotrophic lateral sclerosis: a meta-analysis. Benoît Marin , Farid Boumédiène , Giancarlo Logroscino , Philippe Couratier , Marie-Claude Babron International Journal of Epidemiology, 2016 Article dans une revue hal-01320274v1
	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 Nutile PLoS Genetics, 2016, 12 (2), pp.e1005874. ⟨10.1371/journal.pgen.1005874⟩ Article dans une revue hal-01708531v1
	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 Jacoupy 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 Couratier 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 Génin 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, pp.1940 - 1941. ⟨10.1093/bioinformatics/btu149⟩ Article dans une revue inserm-01085236v2
	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 , Joelle Chastang Science, 2011, 332 (6026), pp.240-3. ⟨10.1126/science.1202205⟩ Article dans une revue hal-01017145v1
	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 Kolčić BMC Genomics, 2010, 11 (1), pp.139. ⟨10.1186/1471-2164-11-139⟩ Article dans une revue inserm-00663772v1
	Parkinson's disease-related LRRK2 G2019S mutation results from independent mutational events in humans. Suzanne Lesage , Etienne Patin , Christel Condroyer , Anne-Louise Leutenegger , Ebba Lohmann Human Molecular Genetics, 2010, 19 (10), pp.1998-2004. ⟨10.1093/hmg/ddq081⟩ Article dans une revue inserm-00522011v1
	LRRK2 exon 41 mutations in sporadic Parkinson disease in Europeans. Suzanne Lesage , Sabine Janin , Ebba Lohmann , Anne-Louise Leutenegger , Laurence Leclere 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 Leutenegger 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 Babron 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

	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 Babron 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
	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 Leutenegger 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

Anne-Louise Leutenegger

Présentation

Publications

Mutations in the non-coding RNU4ATAC gene affect the homeostasis and function of the Integrator complex

Multiethnic genome-wide association study of differentiated thyroid cancer in the EPITHYR consortium

Clinical interpretation of variants identified in RNU4ATAC, a non-coding spliceosomal gene

Novel Chronic Mouse Model of Cerebral Cavernous Malformations

New insights into minor splicing-a transcriptomic analysis of cells derived from TALS patients

Whole-Exome Sequencing in the Isolated Populations of Cilento from South Italy

Whole-Exome Sequencing in the Isolated Populations of Cilento from South Italy

Detecting the dominance component of heritability in isolated and outbred human populations

Strategies for phasing and imputation in a population isolate

Strategies for Phasing and Imputation in a Population Isolate

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

Six Novel Loci Associated with Circulating VEGF Levels Identified by a Meta-analysis of Genome-Wide Association Studies

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

Clinical and demographic factors and outcome of amyotrophic lateral sclerosis in relation to population ancestral origin.

Inbreeding Coefficient Estimation with Dense SNP Data: Comparison of Strategies and Application to HapMap III

FSuite: exploiting inbreeding in dense SNP chip and exome data

FSuite: exploiting inbreeding in dense SNP chip and exome data.

Association of TALS developmental disorder with defect in minor splicing component U4atac snRNA.

Comparative assessment of methods for estimating individual genome-wide homozygosity-by-descent from human genomic data.

Parkinson's disease-related LRRK2 G2019S mutation results from independent mutational events in humans.

LRRK2 exon 41 mutations in sporadic Parkinson disease in Europeans.

LRRK2 G2019S as a cause of Parkinson's disease in North African Arabs.

Modeling the effect of a genetic factor for a complex trait in a simulated population.

Detection of susceptibility loci by genome-wide linkage analysis.

Ethnic differences in the phenotype and outcome of Amyotrophic Lateral Sclerosis: A meta-analysis of population-based studies

Ethic differences in the incidence of Amyotrophic Lateral Sclerosis: a meta-analysis of population-based studies.