List of works by Laurent C Francioli

A structural variation reference for medical and population genetics

scientific article published on 27 May 2020

Characterising the loss-of-function impact of 5' untranslated region variants in 15,708 individuals

scientific article published on 27 May 2020

Genome of The Netherlands population-specific imputations identify an ABCA6 variant associated with cholesterol levels

scientific article

Genome-wide patterns and properties of de novo mutations in humans

scientific article published on 18 May 2015

Human loss-of-function variants suggest that partial LRRK2 inhibition is a safe therapeutic strategy for Parkinson’s disease

scientific article

Improved imputation quality of low-frequency and rare variants in European samples using the 'Genome of The Netherlands'.

scientific article published on 4 June 2014

Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes

scientific article published on 27 May 2020

The Genome of the Netherlands: design, and project goals

scientific article (publication date: February 2014)

The effect of LRRK2 loss-of-function variants in humans

scientific article published on 27 May 2020

The mutational constraint spectrum quantified from variation in 141,456 humans

scientific article published on 27 May 2020

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