User profiles for Laure Frésard

Laure Fresard

Computational Biologist, Invitae
Verified email at invitae.com
Cited by 8907

Directed evolution using dCas9-targeted somatic hypermutation in mammalian cells

GT Hess, L Frésard, K Han, CH Lee, A Li… - Nature …, 2016 - nature.com
Engineering and study of protein function by directed evolution has been limited by the
technical requirement to use global mutagenesis or introduce DNA libraries. Here, we develop …

Single-cell epigenomic analyses implicate candidate causal variants at inherited risk loci for Alzheimer's and Parkinson's diseases

…, A Shcherbina, S Kundu, MJ Gloudemans, L Frésard… - Nature …, 2020 - nature.com
Genome-wide association studies of neurological diseases have identified thousands of
variants associated with disease phenotypes. However, most of these variants do not alter …

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

L Frésard, C Smail, NM Ferraro, NA Teran, X Li… - Nature medicine, 2019 - nature.com
It is estimated that 350 million individuals worldwide suffer from rare diseases, which are
predominantly caused by mutation in a single gene 1 . The current molecular diagnostic rate is …

Co-expression networks reveal the tissue-specific regulation of transcription and splicing

…, E Eskin, PG Ferreira, L Frésard… - Genome …, 2017 - genome.cshlp.org
Gene co-expression networks capture biologically important patterns in gene expression
data, enabling functional analyses of genes, discovery of biomarkers, and interpretation of …

Detection of aberrant gene expression events in RNA sequencing data

…, D Klaproth-Andrade, L Wachutka, L Frésard… - Nature protocols, 2021 - nature.com
RNA sequencing (RNA-seq) has emerged as a powerful approach to discover disease-causing
gene regulatory defects in individuals affected by genetically undiagnosed rare disorders…

[PDF][PDF] Elevated CD47 is a hallmark of dysfunctional aged muscle stem cells that can be targeted to augment regeneration

…, A de Morree, VD Gonzalez, KI Hilgendorf, L Fresard… - Cell Stem Cell, 2022 - cell.com
In aging, skeletal muscle strength and regenerative capacity decline, due in part to functional
impairment of muscle stem cells (MuSCs), yet the underlying mechanisms remain elusive. …

[HTML][HTML] Epigenetics and phenotypic variability: some interesting insights from birds

L Frésard, M Morisson, JM Brun, A Collin… - Genetics Selection …, 2013 - Springer
Little is known about epigenetic mechanisms in birds with the exception of the phenomenon
of dosage compensation of sex chromosomes, although such mechanisms could be …

Identification of rare and common regulatory variants in pluripotent cells using population-scale transcriptomics

MJ Bonder, C Smail, MJ Gloudemans, L Frésard… - Nature …, 2021 - nature.com
Induced pluripotent stem cells (iPSCs) are an established cellular system to study the impact
of genetic variants in derived cell types and developmental contexts. However, in their …

[PDF][PDF] Biallelic mutations in ATP5F1D, which encodes a subunit of ATP synthase, cause a metabolic disorder

…, C Zhao, K Contrepois, Z Zappala, L Frésard… - The American Journal of …, 2018 - cell.com
ATP synthase, H + transporting, mitochondrial F1 complex, δ subunit (ATP5F1D; formerly
ATP5D) is a subunit of mitochondrial ATP synthase and plays an important role in coupling …

Transcriptome-wide investigation of genomic imprinting in chicken

L Fresard, S Leroux, B Servin, D Gourichon… - Nucleic acids …, 2014 - academic.oup.com
Genomic imprinting is an epigenetic mechanism by which alleles of some specific genes are
expressed in a parent-of-origin manner. It has been observed in mammals and marsupials, …