Laurent Francioli
Laurent Francioli
Postdoctoral researcher, Broad Institute of Harvard and MIT
Geverifieerd e-mailadres voor broadinstitute.org
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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
12002020
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
8122019
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
5422014
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
3002015
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
2422014
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
1192020
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
1132015
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
892014
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
732017
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
602013
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
592015
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
502016
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
492019
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
412017
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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Artikelen 1–20