Laure Fresard
Laure Fresard
Postdoctoral Researcher, Stanford University
Verified email at stanford.edu
Title
Cited by
Cited by
Year
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
10572017
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
2292016
Long-read genome sequencing identifies causal structural variation in a Mendelian disease
JD Merker, AM Wenger, T Sneddon, M Grove, Z Zappala, L Fresard, ...
GENETICS in MEDICINE, 2017
852017
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), 16, 2013
642013
Third report on chicken genes and chromosomes 2015
M Schmid, J Smith, DW Burt, BL Aken, PB Antin, AL Archibald, C Ashwell, ...
Cytogenetic and genome research 145 (2), 78-179, 2015
552015
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
512014
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
432016
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
34*2019
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
192018
The GTEx Consortium atlas of genetic regulatory effects across human tissues
F Aguet, AN Barbeira, R Bonazzola, A Brown, SE Castel, B Jo, S Kasela, ...
BioRxiv, 787903, 2019
182019
Fine mapping of complex traits in non-model species: using next generation sequencing and advanced intercross lines in Japanese quail
L Frésard, S Leroux, P Dehais, B Servin, H Gilbert, O Bouchez, C Klopp, ...
BMC genomics 13 (1), 551, 2012
182012
Whole‐transcriptome sequencing in blood provides a diagnosis of spinal muscular atrophy with progressive myoclonic epilepsy
KD Kernohan, L Frésard, Z Zappala, T Hartley, KS Smith, J Wagner, H Xu, ...
Human mutation 38 (6), 611-614, 2017
162017
Genome-Wide Characterization of RNA Editing in Chicken Embryos Reveals Common Features among Vertebrates
L Frésard, S Leroux, PF Roux, C Klopp, S Fabre, D Esquerré, P Dehais, ...
PloS one 10 (5), e0126776, 2015
142015
The extent of mRNA editing is limited in chicken liver and adipose, but impacted by tissular context, genotype, age, and feeding as exemplified with a conserved edited site in COG3
PF Roux, L Frésard, M Boutin, S Leroux, C Klopp, A Djari, D Esquerré, ...
G3: Genes, Genomes, Genetics 6 (2), 321-335, 2016
82016
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
52019
Diagnosing rare diseases after the exome
L Frésard, SB Montgomery
Molecular Case Studies 4 (6), a003392, 2018
52018
Nutritional programming and effect of ancestor diet in birds
M Morisson, V Coustham, L Fresard, A Collin-Chenot, T Zerjal, ...
42017
De novo EIF2AK1 and EIF2AK2 variants are associated with developmental delay, leukoencephalopathy, and neurologic decompensation
D Mao, CM Reuter, MRZ Ruzhnikov, AE Beck, EG Farrow, LT Emrick, ...
The American Journal of Human Genetics, 2020
12020
Single-cell epigenomic identification of inherited risk loci in Alzheimer’s and Parkinson’s disease
MR Corces, A Shcherbina, S Kundu, MJ Gloudemans, L Frésard, ...
bioRxiv, 2020
12020
Systematic assessment of regulatory effects of human disease variants in pluripotent cells
MJ Bonder, C Smail, MJ Gloudemans, L Frésard, D Jakubosky, ...
bioRxiv, 784967, 2019
12019
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