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Acta Neuropathologica Communications|May 3, 2017
Hydrocephalus due to multiple ependymal malformations is caused by mutations in the MPDZ genePascale Saugier-Veber, Florent Marguet, François Lecoquierre, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 1, 2019
Variant recurrence in neurodevelopmental disorders: the use of publicly available genomic data identifies clinically relevant pathogenic missense variantsFrançois Lecoquierre, Yannis Duffourd, Antonio Vitobello, et al.
Plos Genetics|March 31, 2025
Parental germline mosaicism in genome-wide phased de novo variants: Recurrence risk assessment and implications for precision genetic counsellingFrançois Lecoquierre, Nathalie Drouot, Sophie Coutant, et al.
Human Mutation|April 21, 2022
uORF-introducing variants in the 5'UTR of the NIPBL gene as a cause of Cornelia de Lange syndromeJuliette Coursimault, Anne Rovelet-Lecrux, Kévin Cassinari, et al.
Human Genetics|April 19, 2023
High diagnostic potential of short and long read genome sequencing with transcriptome analysis in exome-negative developmental disordersFrançois Lecoquierre, Olivier Quenez, Steeve Fourneaux, et al.
European Journal of Human Genetics : EJHG|December 23, 2022
Heterozygous and homozygous variants in STX1A cause a neurodevelopmental disorder with or without epilepsyJohannes Luppe, Heinrich Sticht, François Lecoquierre, et al.
European Journal of Human Genetics : EJHG|July 4, 2018
Optimization of the diagnosis of inherited colorectal cancer using NGS and capture of exonic and intronic sequences of panel genesStéphanie Baert-Desurmont, Sophie Coutant, Françoise Charbonnier, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|June 8, 2020
Haploinsufficiency of the Primary Familial Brain Calcification Gene SLC20A2 Mediated by Disruption of a Regulatory ElementKévin Cassinari, Anne Rovelet-Lecrux, Sandrine Tury, et al.
American Journal of Medical Genetics. Part A|August 8, 2019
Confirmation and further delineation of the SMG9-deficiency syndrome, a rare and severe developmental disorderFrançois Lecoquierre, Antoine Bonnevalle, Alexandra Chadie, 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.
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