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European Journal of Human Genetics : EJHG|November 10, 2020
Novel FARS2 variants in patients with early onset encephalopathy with or without epilepsy associated with long survivalGiulia Barcia, Marlène Rio, Zahra Assouline, et al.
Prenatal Diagnosis|July 13, 2019
SOX3 duplication: A genetic cause to investigate in fetuses with neural tube defectsMarguerite Hureaux, Selima Ben Miled, Nicolas Chatron, et al.
Medecine Sciences : M/S|December 18, 2019
[Twenty years of on-site clinical genetics consultations for people with ASD]Arnold Munnich, Caroline Demily, Lisa Frugère, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|July 23, 2020
Early-onset epileptic encephalopathy related to germline PIGA mutations: A series of 5 casesSébastien Cabasson, Julien Van-Gils, Frédéric Villéga, et al.
Haematologica|December 17, 2020
Biallelic IARS2 mutations presenting as sideroblastic anemiaGiulia Barcia, Dinusha Pandithan, Benedetta Ruzzenente, et al.
Epilepsia|December 8, 2018
Quantitative analysis and EEG markers of KCNT1 epilepsy of infancy with migrating focal seizuresMathieu Kuchenbuch, Pascal Benquet, Anna Kaminska, et al.
Orphanet Journal of Rare Diseases|May 6, 2016
Utility of whole exome sequencing for the early diagnosis of pediatric-onset cerebellar atrophy associated with developmental delay in an inbred populationHisham Megahed, Michaël Nicouleau, Giulia Barcia, et al.
Clinical Neurophysiology : Official Journal of the International Federation of Clinical Neurophysiology|February 27, 2021
SYNGAP1-DEE: A visual sensitive epilepsyTommaso Lo Barco, Anna Kaminska, Roberta Solazzi, et al.
Acta Neuropathologica Communications|December 21, 2024
Relevance of muscle biopsies in the neonatal and early infantile period: a 52 years retrospective study in the gene-sequencing eraMai Thao Bui, Gorka Fernández-Eulate, Teresinha Evangelista, et al.
Molecular Autism|August 14, 2019
Impact of on-site clinical genetics consultations on diagnostic rate in children and young adults with autism spectrum disorderArnold Munnich, Caroline Demily, Lisa Frugère, et al.
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