Author details

Full Name

Laura Gauthier

Affiliation

ORCID

Career Start Year

2002

Papers

H Index

Expertise

CM4AI Collaborator

PMID	Paper Title	Journal Title	Published Year
38057664	A genomic mutational constraint map using variation in 76,156 human genomes.	Nature	2024
37425834	CHARR efficiently estimates contamination from DNA sequencing data.	bioRxiv	2023
37604963	GATK-gCNV enables the discovery of rare copy number variants from exome sequencing data.	Nat Genet	2023
37595579	Systematic evaluation of genome sequencing for the diagnostic assessment of autism spectrum disorder and fetal structural anomalies.	Am J Hum Genet	2023
38000370	CHARR efficiently estimates contamination from DNA sequencing data.	Am J Hum Genet	2023
35074858	Mitochondrial DNA variation across 56,434 individuals in gnomAD.	Genome Res	2022
35982160	Rare coding variation provides insight into the genetic architecture and phenotypic context of autism.	Nat Genet	2022
34373650	Addendum: The mutational constraint spectrum quantified from variation in 141,456 humans.	Nature	2021
33536627	Author Correction: A structural variation reference for medical and population genetics.	Nature	2021
33536625	Author Correction: The mutational constraint spectrum quantified from variation in 141,456 humans.	Nature	2021
32936032	Lectin recognition and hepatocyte endocytosis of GalNAc-decorated nanostructured lipid carriers.	Journal of Drug Targeting	2021
34673167	Development, formulation, and cellular mechanism of a lipophilic copper chelator for the treatment of Wilson's disease.	International Journal of Pharmaceutics	2021
32461654	The mutational constraint spectrum quantified from variation in 141,456 humans.	Nature	2020
31830260	Lean and deep models for more accurate filtering of SNP and INDEL variant calls.	Bioinformatics	2020
31726778	Quantification of Surface GalNAc Ligands Decorating Nanostructured Lipid Carriers by UPLC-ELSD.	International Journal of Molecular Sciences	2019
29517003	Corrigendum: Landscape of X chromosome inactivation across human tissues.	Nature	2018
30013044	A synthetic-diploid benchmark for accurate variant-calling evaluation.	Nat Methods	2018
29022598	Landscape of X chromosome inactivation across human tissues.	Nature	2017
27535533	Analysis of protein-coding genetic variation in 60,706 humans.	Nature	2016
26244884	Metabolite Profiling and Classification of DNA-Authenticated Licorice Botanicals.	Journal of Natural Products	2015
14976189	The CD20 calcium channel is localized to microvilli and constitutively associated with membrane rafts: antibody binding increases the affinity of the association through an epitope-dependent cross-linking-independent mechanism.	Journal of Biological Chemistry	2004
14607248	Ephrin signaling: One raft to rule them all? One raft to sort them? One raft to spread their call and in signaling bind them?	Life Sciences	2003
12019776	Higher-accuracy method for measuring minichromosome stability in Saccharomyces cerevisiae.	BioTechniques	2002
12392551	Distinct parts of minichromosome maintenance protein 2 associate with histone H3/H4 and RNA polymerase II holoenzyme.		2002
12454060	The role of the carboxyterminal domain of RNA polymerase II in regulating origins of DNA replication in Saccharomyces cerevisiae.	Genetics	2002