Laure Fresard
Laure Fresard
Computational Biologist, Invitae
Verified email at
Cited by
Cited by
Genetic effects on gene expression across human tissues
F Aguet, KG Ardlie, BB Cummings, ET Gelfand, G Getz, K Hadley, ...
Nature 550 (7675), 204-213, 2017
The GTEx Consortium atlas of genetic regulatory effects across human tissues
GTEx Consortium
Science 369 (6509), 1318-1330, 2020
Directed evolution using dCas9-targeted somatic hypermutation in mammalian cells
GT Hess, L Frésard, K Han, CH Lee, A Li, KA Cimprich, SB Montgomery, ...
Nature Methods 13 (12), 1036-1042, 2016
A quantitative proteome map of the human body
L Jiang, M Wang, S Lin, R Jian, X Li, J Chan, G Dong, H Fang, ...
Cell 183 (1), 269-283. e19, 2020
Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts
L Frésard, C Smail, NM Ferraro, NA Teran, X Li, KS Smith, D Bonner, ...
Nature medicine 25 (6), 911-919, 2019
Long-read genome sequencing identifies causal structural variation in a Mendelian disease
JD Merker, AM Wenger, T Sneddon, M Grove, Z Zappala, L Fresard, ...
Single-cell epigenomic analyses implicate candidate causal variants at inherited risk loci for Alzheimer’s and Parkinson’s diseases
MR Corces, A Shcherbina, S Kundu, MJ Gloudemans, L Frésard, ...
Nature genetics 52 (11), 1158-1168, 2020
Molecular transducers of physical activity consortium (MoTrPAC): mapping the dynamic responses to exercise
JA Sanford, CD Nogiec, ME Lindholm, JN Adkins, D Amar, S Dasari, ...
Cell 181 (7), 1464-1474, 2020
Transcriptomic signatures across human tissues identify functional rare genetic variation
NM Ferraro, BJ Strober, J Einson, NS Abell, F Aguet, AN Barbeira, ...
Science 369 (6509), eaaz5900, 2020
An efficient multiple-testing adjustment for eQTL studies that accounts for linkage disequilibrium between variants
JR Davis, L Fresard, DA Knowles, M Pala, CD Bustamante, A Battle, ...
The American Journal of Human Genetics 98 (1), 216-224, 2016
Epigenetics and phenotypic variability: some interesting insights from birds
L Frésard, M Morisson, JM Brun, A Collin, B Pain, F Minvielle, F Pitel
Genetics Selection Evolution 45 (1), 1-12, 2013
Third Report on Chicken Genes and Chromosomes 2015Prepared by
M Schmid, J Smith, DW Burt, BL Aken, PB Antin, AL Archibald, C Ashwell, ...
Cytogenetic and genome research 145 (2), 78-179, 2015
Population-scale tissue transcriptomics maps long non-coding RNAs to complex disease
OM de Goede, DC Nachun, NM Ferraro, MJ Gloudemans, AS Rao, ...
Cell 184 (10), 2633-2648. e19, 2021
Biallelic mutations in ATP5F1D, which encodes a subunit of ATP synthase, cause a metabolic disorder
M Oláhová, WH Yoon, K Thompson, S Jangam, L Fernandez, ...
The American Journal of Human Genetics 102 (3), 494-504, 2018
Transcriptome-wide investigation of genomic imprinting in chicken
L Frésard, S Leroux, B Servin, D Gourichon, P Dehais, M San Cristobal, ...
Nucleic acids research 42 (6), 3768-3782, 2014
Detection of aberrant gene expression events in RNA sequencing data
VA Yépez, C Mertes, MF Müller, D Klaproth-Andrade, L Wachutka, ...
Nature Protocols 16 (2), 1276-1296, 2021
Diagnosing rare diseases after the exome
L Frésard, SB Montgomery
Molecular Case Studies 4 (6), a003392, 2018
De novo variants in WDR37 are associated with epilepsy, colobomas, dysmorphism, developmental delay, intellectual disability, and cerebellar hypoplasia
O Kanca, JC Andrews, PT Lee, C Patel, SR Braddock, AM Slavotinek, ...
The American Journal of Human Genetics 105 (2), 413-424, 2019
Identification of rare and common regulatory variants in pluripotent cells using population-scale transcriptomics
MJ Bonder, C Smail, MJ Gloudemans, L Frésard, D Jakubosky, ...
Nature genetics 53 (3), 313-321, 2021
Exploring the phenotypic consequences of tissue specific gene expression variation inferred from GWAS summary statistics. Nat Commun. 2018; 9 (1): 1825
AN Barbeira, SP Dickinson, R Bonazzola, J Zheng, HE Wheeler, ...
Epub 2018/05/10. https://doi. org/10.1038/s41467-018-03621-1 PMID: 29739930, 0
The system can't perform the operation now. Try again later.
Articles 1–20