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Human Genomics|September 19, 2020
A de novo frameshift pathogenic variant in TBR1 identified in autism without intellectual disabilityLaurie-Anne Sapey-Triomphe, Julie Reversat, Gaëtan Lesca, et al.
Epileptic Disorders : International Epilepsy Journal with Videotape|August 7, 2018
Neonatal tremor episodes and hyperekplexia-like presentation at onset in a child with SCN8A developmental and epileptic encephalopathyLinda Pons, Gaëtan Lesca, Damien Sanlaville, et al.
European Journal of Medical Genetics|August 26, 2021
Description of a novel patient with the TRPM3 recurrent p.Val837Met variantLucas W Gauthier, Nicolas Chatron, Sara Cabet, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|February 19, 2022
CNTNAP1-encephalopathy: Six novel patients surviving the neonatal periodPauline Garel, Gaetan Lesca, Dorothée Ville, et al.
European Journal of Medical Genetics|May 26, 2022
Defining causal variants in rare epilepsies: an essential team effort between biomedical scientists, geneticists and epileptologistsAmy McTague, Andreas Brunklaus, Giulia Barcia, et al.
European Journal of Human Genetics : EJHG|January 5, 2017
Novel homozygous missense variant of GRIN1 in two sibs with intellectual disability and autistic features without epilepsyMassimiliano Rossi, Nicolas Chatron, Audrey Labalme, et al.
Journal of Thrombosis and Haemostasis : JTH|April 26, 2019
Severe hemophilia A caused by an unbalanced chromosomal rearrangement identified using nanopore sequencingNicolas Chatron, Caroline Schluth-Bolard, Mathilde Frétigny, et al.
European Journal of Medical Genetics|August 31, 2020
Follow-up of two adult brothers with homozygous CEP57 pathogenic variants expands the phenotype of Mosaic Variegated Aneuploidy SyndromeTania Dery, Nicolas Chatron, Amerh Alqahtani, et al.
European Journal of Medical Genetics|November 4, 2018
12q13.12q13.13 microdeletion encompassing ACVRL1 and SCN8A genes: Clinical report of a new contiguous gene syndromeAlice Poisson, Gaetan Lesca, Nicolas Chatron, et al.
Molecular Syndromology|December 13, 2017
Genetic Counselling Pitfall: Co-Occurrence of an 11.8-Mb Xp22 Duplication and an Xp21.2 Duplication Disrupting IL1RAPL1Nicolas Chatron, Lucie Thibault, James Lespinasse, et al.
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