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Journal of Medical Genetics|September 17, 2025
Heterozygous alterations of <i>GTF2I</i> at the Williams-Beuren syndrome's locus cause a neurodevelopmental disorderJeanne Jury, Thomas Besnard, Wallid Deb, et al.
Neurology|January 25, 2022
Development and Validation of a Prediction Model for Early Diagnosis of <i>SCN1A</i>-Related EpilepsiesAndreas Brunklaus, Eduardo Pérez-Palma, Ismael Ghanty, et al.
Neurology|February 10, 2019
Biallelic variants in <i>LARS2</i> and <i>KARS</i> cause deafness and (ovario)leukodystrophyMarjo S van der Knaap, Marianna Bugiani, Marisa I Mendes, et al.
Human Mutation|November 6, 2010
Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in femalesChristel Depienne, Oriane Trouillard, Delphine Bouteiller, et al.
JAMA Neurology|May 8, 2013
Genetic analysis of inherited leukodystrophies: genotype-phenotype correlations in the CSF1R geneRita Guerreiro, Eleanna Kara, Isabelle Le Ber, et al.
American Journal of Human Genetics|January 7, 2014
Loss of association of REEP2 with membranes leads to hereditary spastic paraplegiaTyphaine Esteves, Alexandra Durr, Emeline Mundwiller, et al.
Neurology|May 13, 2014
DEPDC5 mutations in families presenting as autosomal dominant nocturnal frontal lobe epilepsyFabienne Picard, Periklis Makrythanasis, Vincent Navarro, et al.
Frontiers in Genetics|November 18, 2024
An intragenic duplication in the AFF2 gene associated with Cornelia de Lange syndrome phenotypeCristina Lucia-Campos, Ilaria Parenti, Ana Latorre-Pellicer, et al.
Clinical Genetics|November 10, 2020
A BBS1 SVA F retrotransposon insertion is a frequent cause of Bardet-Biedl syndromeClarisse Delvallée, Samuel Nicaise, Manuela Antin, et al.
The Lancet. Neurology|May 28, 2013
Brain white matter oedema due to ClC-2 chloride channel deficiency: an observational analytical studyChristel Depienne, Marianna Bugiani, Céline Dupuits, et al.
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