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European Journal of Human Genetics : EJHG|November 30, 2022
A second look at exome sequencing data: detecting mobile elements insertion in a rare disease cohortPhilippine Garret, Martin Chevarin, Antonio Vitobello, et al.
Molecular Genetics & Genomic Medicine|October 30, 2021
Interest of exome sequencing trio-like strategy based on pooled parental DNA for diagnosis and translational research in rare diseasesFrederic Tran Mau-Them, Yannis Duffourd, Antonio Vitobello, et al.
Human Mutation|August 6, 2019
Deciphering exome sequencing data: Bringing mitochondrial DNA variants to lightPhilippine Garret, Céline Bris, Vincent Procaccio, et al.
European Journal of Human Genetics : EJHG|November 25, 2025
Identification of an episignature for the MEF2C-associated syndromeAnanília Silva, Sadegheh Haghshenas, Liselot van der Laan, et al.
American Journal of Medical Genetics. Part A|June 27, 2019
Hearing impairment as an early sign of alpha-mannosidosis in children with a mild phenotype: Report of seven new casesDaphné Lehalle, Roberto Colombo, Michael O'Grady, et al.
European Journal of Medical Genetics|March 7, 2024
Penetrance, variable expressivity and monogenic neurodevelopmental disordersServane de Masfrand, Benjamin Cogné, Mathilde Nizon, et al.
Human Mutation|April 14, 2025
Heterozygous Missense Variants in the ATPase Phospholipid Transporting 9A Gene, ATP9A, Alter Dendritic Spine Maturation and Cause Dominantly Inherited Nonsyndromic Intellectual DisabilityAmélie Cordovado, Yvan Hérenger, Coline Cormier, et al.
Molecular Psychiatry|January 5, 2023
Impaired OTUD7A-dependent Ankyrin regulation mediates neuronal dysfunction in mouse and human models of the 15q13.3 microdeletion syndromeBrianna K Unda, Leon Chalil, Sehyoun Yoon, et al.
Toxicological Sciences : an Official Journal of the Society of Toxicology|May 26, 2017
Xenobiotic CAR Activators Induce Dlk1-Dio3 Locus Noncoding RNA Expression in Mouse LiverLucie Pouché, Antonio Vitobello, Michael Römer, et al.
Human Mutation|July 15, 2021
Variants of human CLDN9 cause mild to profound hearing lossMemoona Ramzan, Christophe Philippe, Inna A Belyantseva, et al.
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