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List of works by Anne-Louise Leutenegger

A novel locus for autosomal dominant “uncomplicated” hereditary spastic paraplegia maps to chromosome 8p21.1-q13.3

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

scientific article

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

scientific article published on 12 October 2015

Coincidence of two genetic forms of Charcot-Marie-Tooth disease in a single family.

scientific article published in October 2004

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

scientific article

Consanguinity around the world: what do the genomic data of the HGDP-CEPH diversity panel tell us?

scientific article

Could inbred cases identified in GWAS data succeed in detecting rare recessive variants where affected sib-pairs have failed?

scientific article

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

scientific article published in Scientific Reports

Detection of susceptibility loci by genome-wide linkage analysis

scientific article published on 30 December 2005

Does anonymous sperm donation increase the risk for unions between relatives and the incidence of autosomal recessive diseases due to consanguinity?

scientific article published on 16 December 2013

Does inbreeding affect N-glycosylation of human plasma proteins?

scientific article published on 13 April 2011

Développement embryonnaire précoce

scientific article published on 27 February 2012

Estimation of Random Genome Sharing: Consequences for Linkage Detection ⬇️

doctoral thesis by Anne-Louise B. Leutenegger, University of Washington, 2003

Estimation of the inbreeding coefficient through use of genomic data

scientific article

FSuite: exploiting inbreeding in dense SNP chip and exome data

scientific article

G2019S LRRK2 mutation in French and North African families with Parkinson's disease

scientific article published on November 2005

Genetic and environmental factors influencing the Placental Growth Factor (PGF) variation in two populations

scientific article

Genetic variants modulating CRIPTO serum levels identified by genome-wide association study in Cilento isolates

scientific article

Genetics of VEGF serum variation in human isolated populations of cilento: importance of VEGF polymorphisms.

scientific article

Genome-wide inbreeding estimation within Lebanese communities using SNP arrays

scientific article published on 01 October 2015

Genome-wide inbreeding estimation within Lebanese communities using SNP arrays.

scientific article

High level of inbreeding in final phase of 1000 Genomes Project

scientific article

Impact of parental relationships in maximum lod score affected sib-pair method

scientific article published on 01 November 2002

Inbreeding coefficient estimation with dense SNP data: comparison of strategies and application to HapMap III.

scientific article

Juvenile-Onset Parkinsonism as a Result of the First Mutation in the Adenosine Triphosphate Orientation Domain of PINK1

scientific article published on 01 September 2006

LRRK2 exon 41 mutations in sporadic Parkinson disease in Europeans

scientific article published on March 2007

LRRK2 haplotype analyses in European and North African families with Parkinson disease: a common founder for the G2019S mutation dating from the 13th century

scientific article published in August 2005

LRRK2, un gène de la famille ROCO impliquée dans la maladie de Parkinson

article

LRRK2G2019S as a Cause of Parkinson's Disease in North African Arabs

article

Le don anonyme de sperme n’augmente pas significativement les unions entre apparentés, la consanguinité et l’incidence des maladies récessives

scientific article published on 26 March 2014

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

scientific journal article

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

scientific article published on 30 December 2005

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

scientific article published on 07 June 2019

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

scientific article

Polynesian ecology determines seasonality of biliary atresia

scientific article published in November 2011

Presence of large deletions in kindreds with autism

scientific article published on 07 June 2002

Relationship inference from the genetic data on parents or offspring: A comparative study.

scientific article

Runs of homozygosity in European populations

scientific article

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

scientific article

Strategies for phasing and imputation in a population isolate.

scientific article published on 10 January 2018

Using genomic inbreeding coefficient estimates for homozygosity mapping of rare recessive traits: application to Taybi-Linder syndrome.

scientific article

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

scientific article

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

article

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