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Human Mutation|April 15, 2021
Novel missense mutations in PTCHD1 alter its plasma membrane subcellular localization and cause intellectual disability and autism spectrum disorderJudith Halewa, Sylviane Marouillat, Manon Dixneuf, et al.
Clinical Genetics|October 28, 2020
Development of a new expanded next-generation sequencing panel for genetic diseases involved in dyslipidemiaOriane Marmontel, Pierre Antoine Rollat-Farnier, Anne-Sophie Wozny, et al.
European Journal of Human Genetics : EJHG|March 21, 2025
XRCC4-related microcephalic primordial dwarfism: description of a clinical series of 7 cases, phenotype expansion and new diagnostic approachesSilvestre Cuinat, Nicolas Chatron, Florence Petit, et al.
Clinical Genetics|December 28, 2022
Familial transmission of chromoanagenesis leads to unpredictable unbalanced rearrangements through meiotic recombinationJulie Masson, Céline Pebrel-Richard, Matthieu Egloff, et al.
Human Molecular Genetics|June 1, 2021
Variants in USP48 encoding ubiquitin hydrolase are associated with autosomal dominant non-syndromic hereditary hearing lossSissy Bassani, Edward van Beelen, Mireille Rossel, et al.
European Journal of Medical Genetics|January 29, 2022
The EPIGENE network: A French initiative to harmonize and improve the nationwide diagnosis of monogenic epilepsiesLionel Arnaud, Marie-Thérèse Abi Warde, Giulia Barcia, et al.
Annals of Neurology|April 10, 2018
The epilepsy phenotypic spectrum associated with a recurrent CUX2 variantNicolas Chatron, Rikke S Møller, Neena L Champaigne, et al.
HGG Advances|September 11, 2024
Familial severe skeletal Class II malocclusion with gingival hyperplasia caused by a complex structural rearrangement at the KCNJ2-KCNJ16 locusReza Maroofian, Alistair T Pagnamenta, Alireza Navabazam, et al.
Human Mutation|June 24, 2019
Identification of mobile retrocopies during genetic testing: Consequences for routine diagnosisNicolas Chatron, Kevin Cassinari, Olivier Quenez, et al.
Brain : a Journal of Neurology|April 14, 2020
Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathyNicolas Chatron, Felicitas Becker, Heba Morsy, et al.
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