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Journal of Medical Genetics|June 4, 2021
High efficiency and clinical relevance of exome sequencing in the daily practice of neurogeneticsQuentin Thomas, Antonio Vitobello, Frederic Tran Mau-Them, et al.European Journal of Human Genetics : EJHG|October 28, 2021
ITSN1: a novel candidate gene involved in autosomal dominant neurodevelopmental disorder spectrumAnge-Line Bruel, Antonio Vitobello, Isabelle Thiffault, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 20, 2018
2.5 years' experience of GeneMatcher data-sharing: a powerful tool for identifying new genes responsible for rare diseasesAnge-Line Bruel, Antonio Vitobello, Frédéric Tran Mau-Them, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 3, 2017
Clinical whole-exome sequencing for the diagnosis of rare disorders with congenital anomalies and/or intellectual disability: substantial interest of prospective annual reanalysisSophie Nambot, Julien Thevenon, Paul Kuentz, et al.Toxicological Sciences : an Official Journal of the Society of Toxicology|April 3, 2014
Phenobarbital induces cell cycle transcriptional responses in mouse liver humanized for constitutive androstane and pregnane x receptorsRaphaëlle Luisier, Harri Lempiäinen, Nina Scherbichler, et al.Annals of Human Genetics|February 10, 2022
Copy number variants calling from WES data through eXome hidden Markov model (XHMM) identifies additional 2.5% pathogenic genomic imbalances smaller than 30 kb undetected by array-CGHEmilie Tisserant, Antonio Vitobello, Davide Callegarin, et al.Cell Reports|June 9, 2021
Nucleocytoplasmic transport of the RNA-binding protein CELF2 regulates neural stem cell fatesMelissa J MacPherson, Sarah L Erickson, Drayden Kopp, et al.International Journal of Molecular Sciences|February 15, 2022
Clinical Utility of a Unique Genome-Wide DNA Methylation Signature for KMT2A-Related SyndromeAidin Foroutan, Sadegheh Haghshenas, Pratibha Bhai, et al.Nature Communications|October 30, 2022
Integration of Hi-C with short and long-read genome sequencing reveals the structure of germline rearranged genomesRobert Schöpflin, Uirá Souto Melo, Hossein Moeinzadeh, et al.Clinical Genetics|April 13, 2020
Further delineation of the female phenotype with KDM5C disease causing variants: 19 new individuals and review of the literatureVirginie Carmignac, Sophie Nambot, Daphné Lehalle, et al.Pageof 15