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List of works by Laure Frésard

A Systematic Method for Detecting Abnormal mRNA Splicing and Assessing Its Clinical Impact in Individuals Undergoing Genetic Testing for Hereditary Cancer Syndromes

scientific article published in 2023

An Efficient Multiple-Testing Adjustment for eQTL Studies that Accounts for Linkage Disequilibrium between Variants.

scientific article published on 30 December 2015

Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder

scientific article published on 16 February 2018

Diagnosing rare diseases after the exome

scientific article published on 17 December 2018

Directed evolution using dCas9-targeted somatic hypermutation in mammalian cells.

scientific article

Epigenetics and phenotypic variability: some interesting insights from birds

scientific article published on 11 June 2013

Fine mapping of complex traits in non-model species: using next generation sequencing and advanced intercross lines in Japanese quail

scientific article

Genome-Wide Characterization of RNA Editing in Chicken Embryos Reveals Common Features among Vertebrates

scientific article published on 29 May 2015

Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts

scientific article published on 03 June 2019

Long-read genome sequencing identifies causal structural variation in a Mendelian disease.

scientific article published on 22 June 2017

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.

scientific article published on 4 December 2015

Third Report on Chicken Genes and Chromosomes 2015.

scientific article published on 14 July 2015

Transcriptome-wide investigation of genomic imprinting in chicken

scientific article published on 21 January 2014

Whole-transcriptome sequencing in blood provides a diagnosis of spinal muscular atrophy with progressive myoclonic epilepsy.

scientific article published on 2 March 2017

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