L. Francioli

发表

The Genome of the Netherlands: design, and project goals

Pieter B. T. Neerincx, Jeroen F. J. Laros, David van Enckevort, 2013, European Journal of Human Genetics.

Variation across 141,456 human exomes and genomes reveals the spectrum of loss-of-function intolerance across human protein-coding genes

Ryan L. Collins, Beryl B. Cummings, Kristen M. Laricchia, 2019, bioRxiv.

Deleterious Alleles in the Human Genome Are on Average Younger Than Neutral Alleles of the Same Frequency

Adam Kiezun, Morris Swertz, Dorret I. Boomsma, 2013, PLoS genetics.

Leveraging distant relatedness to quantify human mutation and gene conversion rates

John Wakeley, Alexander Gusev, Sriram Sankararaman, 2015, bioRxiv.

Leveraging distant relatedness to quantify human mutation and gene conversion rates

A. Price, I. Pe’er, P. D. de Bakker, 2015, bioRxiv.

Supplementary Information Whole-genome sequence variation , population structure and demographic history of the Dutch population

Pieter B. T. Neerincx, Jeroen F. J. Laros, David van Enckevort, 2022 .

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

Morris Swertz, Victor Guryev, Dorret I. Boomsma, 2015, Nature Genetics.

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

Irina M. Armean, Judy H. Cho, Y. J. Kim, 2019, Nature.

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

Ryan L. Collins, Beryl B. Cummings, Kristen M. Laricchia, 2020, Nature.

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

Ryan L. Collins, Beryl B. Cummings, Kristen M. Laricchia, 2020, Nature Communications.

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

Tariq Ahmad, Patrick F. Sullivan, Andres Metspalu, 2020, Nature Communications.

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

Tariq Ahmad, Patrick F. Sullivan, Andres Metspalu, 2019, bioRxiv.

An open resource of structural variation for medical and population genetics

Grace Tiao, Daniel G. MacArthur, Ryan L. Collins, 2019 .

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

Heorhiy Byelas, Alexandros Kanterakis, David van Enckevort, 2014, European Journal of Human Genetics.

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

Ryan L. Collins, Beryl B. Cummings, Kristen M. Laricchia, 2020, Nature Medicine.

Evaluating drug targets through human loss-of-function genetic variation

Ryan L. Collins, Beryl B. Cummings, Kristen M. Laricchia, 2019, Nature.

Inherited and de novo variation in human genomes

L. Francioli, 2015 .

A high-quality reference panel reveals the complexity and distribution of structural genome changes in a human population

Morris A. Swertz, Jasmijn A. Baaijens, Victor Guryev, 2016, bioRxiv.

WGS-based telomere length analysis in Dutch family trios implicates stronger maternal inheritance and a role for RRM1 gene

Pieter B. T. Neerincx, Jeroen F. J. Laros, A. Hofman, 2019, Scientific Reports.

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

D. MacArthur, K. Karczewski, L. Francioli, 2020 .

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

Ryan L. Collins, Beryl B. Cummings, Kristen M. Laricchia, 2021, Nature.

Transcript expression-aware annotation improves rare variant interpretation

Jonathan M. Mudge, Ryan L. Collins, Beryl B. Cummings, 2020, Nature.

The role of de novo mutations in the development of amyotrophic lateral sclerosis

Annelot M. Dekker, Raymond D. Schellevis, S. Pulit, 2017, Human mutation.

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

Eric Banks, Menachem Fromer, Benjamin M Neale, 2016, European Journal of Human Genetics.

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge

Adam P. DeLuca, Matthew S. Lebo, Janeen L Andorf, 2014, Genome Biology.

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge

Daniel Nilsson, Peter Szolovits, Karen Eilbeck, 2014, Genome Biology.

Characteristics of de novo structural changes in the human genome

Alexander Schönhuth, Edwin Cuppen, Victor Guryev, 2015, Genome research.

Rare coding variants in ten genes confer substantial risk for schizophrenia

S. Gabriel, M. Daly, H. Kang, 2022, Nature.

novoCaller: a Bayesian network approach for de novo variant calling from pedigree and population sequence data

Anwoy Kumar Mohanty, Dana Vuzman, Laurent Francioli, 2018, Bioinform..

Exome sequencing identifies rare coding variants in 10 genes which confer substantial risk for schizophrenia

S. Gabriel, N. Craddock, L. DeLisi, 2020, medRxiv.

Author Correction: A structural variation reference for medical and population genetics

Ryan L. Collins, Jack M. Fu, Christopher W. Whelan, 2021, Nature.

Mapping the human genetic architecture of COVID-19

Mattia G. Bergomi, Christopher M. DeBoever, Matthew A. Wiles, 2021, Nature.

Negative selection in humans and fruit flies involves synergistic epistasis

P. D. de Bakker, S. Sunyaev, S. Pulit, 2016, Science.

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

Pieter B. T. Neerincx, O. Franco, A. Hofman, 2015, Nature communications.

A high-quality human reference panel reveals the complexity and distribution of genomic structural variants

Alexandros Kanterakis, Mark Santcroos, David van Enckevort, 2016, Nature Communications.

A structural variation reference for medical and population genetics

Ryan L. Collins, Jack M. Fu, Beryl B. Cummings, 2020, Nature.

Recurrent TTN metatranscript‐only c.39974–11T>G splice variant associated with autosomal recessive arthrogryposis multiplex congenita and myopathy

Beryl B. Cummings, D. MacArthur, S. Ellard, 2020, Human mutation.

Centers for Mendelian Genomics: A decade of facilitating gene discovery

Jeffrey M. Weiss, Ryan L. Collins, Jack M. Fu, 2021, medRxiv.

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

S. Leal, L. Francioli, R. Santos-Cortez, 2019, European Journal of Human Genetics.

Human genetic variation alters CRISPR-Cas9 on- and off-targeting specificity at therapeutically implicated loci

Jean-Claude Tardif, Matthew C. Canver, Daniel G. MacArthur, 2017, Proceedings of the National Academy of Sciences.

A genome-wide association study identifies a functional ERAP2 haplotype associated with birdshot chorioretinopathy.

Stephan Ripke, Carel B Hoyng, Flip Mulder, 2014, Human molecular genetics.

A genome-wide mutational constraint map quantified from variation in 76,156 human genomes

Ryan L. Collins, Alicia R. Martin, E. Banks, 2022, bioRxiv.

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

Ryan L. Collins, Beryl B. Cummings, Kristen M. Laricchia, 2020, Nature Communications.

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

Ryan L. Collins, Beryl B. Cummings, Kristen M. Laricchia, 2020, Nature Communications.

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

Beryl B. Cummings, Andrew J. Hill, D. MacArthur, 2019, bioRxiv.

Transcript expression-aware annotation improves rare variant interpretation

Jonathan M. Mudge, Ryan L. Collins, Beryl B. Cummings, 2020, Nature.

Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death

Ryan L. Collins, Jack M. Fu, Beryl B. Cummings, 2023, Nature Medicine.

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

Ryan L. Collins, Beryl B. Cummings, Kristen M. Laricchia, 2021, Nature.

A structural variation reference for medical and population genetics

Tariq Ahmad, Patrick F. Sullivan, Mark I. McCarthy, 2020, Nature.

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

Beryl B. Cummings, Kristen M. Laricchia, Irina M. Armean, 2019, bioRxiv.

Implementation of hand hygiene in health-care facilities: results from the WHO Hand Hygiene Self-Assessment Framework global survey 2019

B. Allegranzi, D. Pittet, L. Francioli, 2022, The Lancet. Infectious diseases.

A Numeric Model to Simulate Solar Individual Ultraviolet Exposure

Laurent Moccozet, David Vernez, Laurent Francioli, 2011, Photochemistry and photobiology.

Evaluating drug targets through human loss-of-function genetic variation

Ryan L. Collins, Beryl B. Cummings, Kristen M. Laricchia, 2020, Nature.

Inferring compound heterozygosity from large-scale exome sequencing data.

Michael H. Guo, D. MacArthur, J. Hirschhorn, 2023, Nature genetics.

A framework for de-novo mutations discovery in Next Generation Sequencing data

L. Francioli, P. D. Bakker, A. Feelders, 2014 .

Mapping the human genetic architecture of COVID-19

Mattia G. Bergomi, Christopher M. DeBoever, Matthew A. Wiles, 2021, Nature.

A second update on mapping the human genetic architecture of COVID-19

M. A. Hakim Newton, Jack D. Sanders, Jonathan H. Morgan, 2022, Nature.

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

Ryan L. Collins, Beryl B. Cummings, Kristen M. Laricchia, 2021, Nature.

Whole-genome sequence variation, population structure and demographic history of the Dutch population

Pieter B. T. Neerincx, R. Handsaker, J. Hehir-Kwa, 2014, Nature Genetics.

Negative selection in humans and fruit flies involves synergistic epistasis

P. D. de Bakker, S. Sunyaev, S. Pulit, 2016, Science.

A Numeric Model to Simulate Solar Individual Ultraviolet Exposure

L. Francioli, A. Milon, J. Bulliard, 2011, Photochemistry and photobiology.

A genomic mutational constraint map using variation in 76,156 human genomes

Ryan L. Collins, Alicia R. Martin, E. Banks, 2023, Nature.

Leveraging Distant Relatedness to Quantify Human Mutation and Gene Conversion Rates 2

S. Sankararaman, L. Francioli, P. Palamara, 2022 .