Laurent Francioli
Laurent Francioli
Postdoctoral researcher, Broad Institute of Harvard and MIT
Verified email at broadinstitute.org
Title
Cited by
Cited by
Year
The mutational constraint spectrum quantified from variation in 141,456 humans
KJ Karczewski, LC Francioli, G Tiao, BB Cummings, J Alföldi, Q Wang, ...
Nature 581 (7809), 434-443, 2020
13792020
Variation across 141,456 human exomes and genomes reveals the spectrum of loss-of-function intolerance across human protein-coding genes
KJ Karczewski, LC Francioli, G Tiao, BB Cummings, J Alföldi, Q Wang, ...
BioRxiv, 531210, 2019
8252019
Whole-genome sequence variation, population structure and demographic history of the Dutch population
LC Francioli, A Menelaou, SL Pulit, F Van Dijk, PF Palamara, CC Elbers, ...
Nature genetics 46 (8), 818, 2014
5442014
Genome-wide patterns and properties of de novo mutations in humans
LC Francioli, PP Polak, A Koren, A Menelaou, S Chun, I Renkens, ...
Nature genetics 47 (7), 822-826, 2015
3052015
The Genome of the Netherlands: design, and project goals
DI Boomsma, C Wijmenga, EP Slagboom, MA Swertz, LC Karssen, ...
European Journal of Human Genetics 22 (2), 221-227, 2014
2452014
A structural variation reference for medical and population genetics
RL Collins, H Brand, KJ Karczewski, X Zhao, J Alföldi, LC Francioli, ...
Nature 581 (7809), 444-451, 2020
1342020
Characteristics of de novo structural changes in the human genome
WP Kloosterman, LC Francioli, F Hormozdiari, T Marschall, JY Hehir-Kwa, ...
Genome research 25 (6), 792-801, 2015
1142015
An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge
CA Brownstein, AH Beggs, N Homer, B Merriman, WY Timothy, ...
Genome biology 15 (3), 1-18, 2014
982014
Improved imputation quality of low-frequency and rare variants in European samples using the ‘Genome of The Netherlands’
P Deelen, A Menelaou, EM Van Leeuwen, A Kanterakis, F Van Dijk, ...
European Journal of Human Genetics 22 (11), 1321-1326, 2014
962014
A genome-wide association study identifies a functional ERAP2 haplotype associated with birdshot chorioretinopathy
JJW Kuiper, J Van Setten, S Ripke, R Van ‘T Slot, F Mulder, T Missotten, ...
Human molecular genetics 23 (22), 6081-6087, 2014
922014
Human genetic variation alters CRISPR-Cas9 on-and off-targeting specificity at therapeutically implicated loci
S Lessard, L Francioli, J Alfoldi, JC Tardif, PT Ellinor, DG MacArthur, ...
Proceedings of the National Academy of Sciences 114 (52), E11257-E11266, 2017
752017
A high-quality human reference panel reveals the complexity and distribution of genomic structural variants
JY Hehir-Kwa, T Marschall, WP Kloosterman, LC Francioli, JA Baaijens, ...
Nature communications 7 (1), 1-10, 2016
662016
Population-specific genotype imputations using minimac or IMPUTE2
EM Van Leeuwen, A Kanterakis, P Deelen, MV Kattenberg, PE Slagboom, ...
Nature protocols 10 (9), 1285-1296, 2015
632015
Deleterious alleles in the human genome are on average younger than neutral alleles of the same frequency
A Kiezun, SL Pulit, LC Francioli, F van Dijk, M Swertz, DI Boomsma, ...
PLoS Genet 9 (2), e1003301, 2013
612013
Leveraging distant relatedness to quantify human mutation and gene-conversion rates
PF Palamara, LC Francioli, PR Wilton, G Genovese, A Gusev, ...
The American Journal of Human Genetics 97 (6), 775-789, 2015
602015
Transmission of human mtDNA heteroplasmy in the Genome of the Netherlands families: support for a variable-size bottleneck
M Li, R Rothwell, M Vermaat, M Wachsmuth, R Schröder, JFJ Laros, ...
Genome research 26 (4), 417-426, 2016
522016
An open resource of structural variation for medical and population genetics
RL Collins, H Brand, KJ Karczewski, X Zhao, J Alföldi, AV Khera, ...
BioRxiv, 578674, 2019
502019
Negative selection in humans and fruit flies involves synergistic epistasis
M Sohail, OA Vakhrusheva, JH Sul, SL Pulit, LC Francioli, ...
Science 356 (6337), 539-542, 2017
432017
Genome of the Netherlands population-specific imputations identify an ABCA6 variant associated with cholesterol levels
EM Van Leeuwen, LC Karssen, J Deelen, A Isaacs, C Medina-Gomez, ...
Nature communications 6 (1), 1-6, 2015
382015
A numeric model to simulate solar individual ultraviolet exposure
D Vernez, A Milon, L Francioli, JL Bulliard, L Vuilleumier, L Moccozet
Photochemistry and photobiology 87 (3), 721-728, 2011
382011
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