Publications by authors named "Laurent C Francioli"

17Publications

Disparities in discovery of pathogenic variants for autosomal recessive non-syndromic hearing impairment by ancestry.

Eur J Hum Genet 2019 09 3;27(9):1456-1465. Epub 2019 May 3.

Center for Statistical Genetics, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.

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http://www.nature.com/articles/s41431-019-0417-2
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http://dx.doi.org/10.1038/s41431-019-0417-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6777454PMC
September 2019

A framework for the detection of de novo mutations in family-based sequencing data.

Eur J Hum Genet 2017 02 23;25(2):227-233. Epub 2016 Nov 23.

Department of Medical Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, The Netherlands.

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http://dx.doi.org/10.1038/ejhg.2016.147DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5255947PMC
February 2017

Leveraging Distant Relatedness to Quantify Human Mutation and Gene-Conversion Rates.

Am J Hum Genet 2015 Dec 12;97(6):775-89. Epub 2015 Nov 12.

Department of Epidemiology, Harvard T.H. Chan School of Public Health, Boston, MA 02115, USA; Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA; Department of Biostatistics, Harvard T.H. Chan School of Public Health, Boston, MA 02115, USA.

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http://dx.doi.org/10.1016/j.ajhg.2015.10.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4678427PMC
December 2015

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

Nat Commun 2015 Mar 9;6:6065. Epub 2015 Mar 9.

Department of Epidemiology, Erasmus Medical Center, Rotterdam 3000 CA, The Netherlands.

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http://dx.doi.org/10.1038/ncomms7065DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4366498PMC
March 2015