Laure Fresard
Laure Fresard
Postdoctoral Researcher, Stanford University
Verified email at stanford.edu
TitleCited byYear
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
5902017
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
1662016
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
532013
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
512017
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
492015
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
422014
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
352016
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
192012
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
112018
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
112015
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
102017
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
62016
Identification of rare-disease genes in diverse undiagnosed cases using whole blood transcriptome sequencing and large control cohorts
L Fresard, C Smail, KS Smith, NM Ferraro, NA Teran, KD Kernohan, ...
BioRxiv, 408492, 2018
32018
Diagnosing rare diseases after the exome
L Frésard, SB Montgomery
Molecular Case Studies 4 (6), a003392, 2018
22018
Nutritional programming and effect of ancestor diet in birds
M Morisson, V Coustham, L Frésard, A Collin, T Zerjal, ...
Handbook of Nutrition, Diet, and Epigenetics, 1-18, 2017
22017
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, 1, 2019
12019
Quail genetic markers developed by next generation sequencing.
S Leroux, K Feve, F Vignoles, O Bouchez, L Fresard, D Gourichon, ...
Actes des 9èmes Journées de la Recherche Avicole, Tours, France, 29 et 30 …, 2011
12011
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, 2019
2019
A toolkit for genetics providers in follow‐up of patients with non‐diagnostic exome sequencing
DB Zastrow, JN Kohler, D Bonner, CM Reuter, L Fernandez, ME Grove, ...
Journal of genetic counseling 28 (2), 213-228, 2019
2019
DNASE1L3RELATED AUTOIMMUNE SYNDROME: A CASE REPORT AND REVIEW OF THE LITERATURE
J Schymick, D Bonner, M Majcherska, C McCormack, L Fresard, K Smith, ...
Journal of Investigative Medicine 67 (1), 80-81, 2019
2019
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