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Lista de obras de Laure Frésard

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

artículo científico publicado en 2023

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

artículo científico publicado en 2015

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

artículo científico publicado en 2018

Diagnosing rare diseases after the exome

artículo científico publicado en 2018

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

artículo científico publicado en 2016

Epigenetics and phenotypic variability: some interesting insights from birds

artículo científico publicado en 2013

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

artículo científico publicado en 2012

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

artículo científico publicado en 2015

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

artículo científico publicado en 2019

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

artículo científico publicado en 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.

artículo científico publicado en 2015

Third Report on Chicken Genes and Chromosomes 2015.

scientific article published on 14 July 2015

Transcriptome-wide investigation of genomic imprinting in chicken

artículo científico publicado en 2014

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

artículo científico publicado en 2017

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