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Measuring the Efficiency of Purging by non-random Mating in Human Populations
Romain Laurent
,
José Utge
,
Sophie Lafosse
,
Laure Gineau
,
Chan Leakhena Phoeung
Journal articles
hal-04632944v1
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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 Ozisik
Journal articles
hal-04746483v1
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An AluYa5 Insertion in the 3'UTR of COL4A1 and Cerebral Small Vessel Disease
Chaker Aloui
,
Lisa Neumann
,
Françoise Bergametti
,
Eric Sartori
,
Marc Herbreteau
Journal articles
hal-04563144v1
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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
Journal articles
hal-03913654v1
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Multiethnic genome-wide association study of differentiated thyroid cancer in the EPITHYR consortium
Thérèse Truong
,
Fabienne Lesueur
,
Pierre Emmanuel Sugier
,
Julie Guibon
,
Constance Xhaard
Journal articles
hal-03288145v1
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Novel Chronic Mouse Model of Cerebral Cavernous Malformations
Cécile Cardoso
,
Minh Arnould
,
Coralie de Luca
,
Cécile Otten
,
Salim Abdelilah-Seyfried
Journal articles
hal-02613690v1
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Clinical interpretation of variants identified in RNU4ATAC, a non-coding spliceosomal gene
Clara Benoit-Pilven
,
Alicia Besson
,
Audrey Putoux
,
Claire Benetollo
,
Clément Saccaro
Journal articles
inserm-02915106v1
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Whole-Exome Sequencing in the Isolated Populations of Cilento from South Italy
T. Nutile
,
D. Ruggiero
,
A. Herzig
,
A. Tirozzi
,
S. Nappo
Journal articles
hal-02151153v1
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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
Journal articles
hal-02305628v1
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Whole-Exome Sequencing in the Isolated Populations of Cilento from South Italy
T. Nutile
,
D. Ruggiero
,
A. Herzig
,
A. Tirozzi
,
S. Nappo
Journal articles
hal-04278376v1
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Detecting the dominance component of heritability in isolated and outbred human populations
Anthony Francis Herzig
,
Teresa Nutile
,
Daniela Ruggiero
,
Marina Ciullo
,
Hervé Perdry
Journal articles
hal-02151167v1
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Strategies for phasing and imputation in a population isolate
Anthony Francis Herzig
,
Teresa Nutile
,
Marie‐claude Babron
,
Marina Ciullo
,
Céline Bellenguez
Journal articles
hal-04278379v1
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Strategies for Phasing and Imputation in a Population Isolate
Anthony Francis Herzig
,
Teresa Nutile
,
Marie-Claude Babron
,
Marina Ciullo
,
Céline Bellenguez
Journal articles
inserm-01645064v1
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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
Journal articles
hal-01320274v1
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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
Journal articles
hal-01289266v1
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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
Journal articles
hal-01708531v1
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Clinical and demographic factors and outcome of amyotrophic lateral sclerosis in relation to population ancestral origin.
Benoît Marin
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Giancarlo Logroscino
,
Farid Boumédiène
,
Anaïs Labrunie
,
Philippe Couratier
European Journal of Epidemiology, 2015
Journal articles
hal-01217277v1
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Inbreeding Coefficient Estimation with Dense SNP Data: Comparison of Strategies and Application to HapMap III
Steven Gazal
,
Mourad Sahbatou
,
Hervé Perdry
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Sébastien Letort
,
Emmanuelle Génin
Journal articles
inserm-01084018v1
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FSuite: exploiting inbreeding in dense SNP chip and exome data.
Steven Gazal
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Mourad Sahbatou
,
Marie-Claude Babron
,
Emmanuelle Génin
,
Anne-Louise Leutenegger
Journal articles
inserm-01023821v1
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Association of TALS developmental disorder with defect in minor splicing component U4atac snRNA.
Patrick Edery
,
Charles Marcaillou
,
Mourad Sahbatou
,
Audrey Labalme
,
Joelle Chastang
Journal articles
hal-01017145v1
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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
Journal articles
inserm-00663772v1
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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
Journal articles
inserm-00522011v1
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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
Journal articles
hal-00194970v1
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LRRK2 G2019S as a cause of Parkinson's disease in North African Arabs.
Suzanne Lesage
,
Alexandra Dürr
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Meriem Tazir
,
Ebba Lohmann
,
Anne-Louise Leutenegger
Journal articles
hal-00221453v1
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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
Journal articles
inserm-00089272v1
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Detection of susceptibility loci by genome-wide linkage analysis.
Marie-Claude Babron
,
Catherine Bourgain
,
Anne-Louise Leutenegger
,
Françoise Clerget-Darpoux
Journal articles
inserm-00089254v1
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