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F Aguet, KG Ardlie, BB Cummings, ET Gelfand, G Getz, K Hadley, ...
Nature 550 (7675), 204-213, 2017
|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
|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
|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
|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
|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
|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
|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
|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
|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
|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
|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
|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
|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
|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
|Diagnosing rare diseases after the exome|
L Frésard, SB Montgomery
Molecular Case Studies 4 (6), a003392, 2018
|Nutritional programming and effect of ancestor diet in birds|
M Morisson, V Coustham, L Fresard, A Collin-Chenot, T Zerjal, ...
|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
|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, ...
|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