Anne Guimier

<i>ARMC5</i>Mutations in Macronodular Adrenal Hyperplasia with Cushing's Syndrome

Guillaume Assié, Rossella Libé, Stéphanie Espiard et al. · New England Journal of Medicine · 2013 · 386 citations · Full text

MMP21 is mutated in human heterotaxy and is required for normal left-right asymmetry in vertebrates

Anne Guimier, George C. Gabriel, Fanny Bajolle et al. · Nature Genetics · 2015 · 88 citations · Full text

Knockout Mouse, Genome Instability, Developmental Biology +7

Biallelic PPA2 Mutations Cause Sudden Unexpected Cardiac Arrest in Infancy

Anne Guimier, Christopher T. Gordon, François Godard et al. · The American Journal of Human Genetics · 2016 · 55 citations · Full text

Cardiovascular Disease, Pediatric Heart Disease, Pediatrics +4

Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability

Benjamin Cogné, Sophie Ehresmann, Éliane Beauregard‐Lacroix et al. · The American Journal of Human Genetics · 2019 · 51 citations · Full text

Neurodevelopmental Disorders, Chromatin, Syndromic Autism +11

Activating variants in <scp><i>PDGFRB</i></scp> result in a spectrum of disorders responsive to imatinib monotherapy

Tara Wenger, Randall A. Bly, Natalie Wu et al. · American Journal of Medical Genetics Part A · 2020 · 33 citations · Full text

Immunology, Sudden Death, Pathology +16