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Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 30, 2017
FOXG1 syndrome: genotype-phenotype association in 83 patients with FOXG1 variantsDiana Mitter, Milka Pringsheim, Marc Kaulisch, et al.
Brain : a Journal of Neurology|October 21, 2017
Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophySteffen Syrbe, Frederike L Harms, Elena Parrini, et al.
Journal of Medical Genetics|March 19, 2016
Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsyCyril Mignot, Celina von Stülpnagel, Caroline Nava, et al.
Brain : a Journal of Neurology|August 20, 2021
Biallelic PI4KA variants cause neurological, intestinal and immunological diseaseClaire G Salter, Yiying Cai, Bernice Lo, et al.
American Journal of Human Genetics|October 23, 2025
Bi-allelic variants in the ribosomal protein RPS6KC1 cause a complex neurodevelopmental disorderLaura Planas-Serra, Mar Rodríguez-Ruiz, Eric Nathaniel Anderson, et al.
American Journal of Human Genetics|January 10, 2017
Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis LaxaTim Van Damme, Thatjana Gardeitchik, Miski Mohamed, et al.
Medrxiv : the Preprint Server for Health Sciences|October 9, 2023
Heterozygous loss-of-function SMC3 variants are associated with variable and incompletely penetrant growth and developmental featuresMorad Ansari, Kamli N W Faour, Akiko Shimamura, et al.
HGG Advances|February 1, 2024
Heterozygous loss-of-function SMC3 variants are associated with variable growth and developmental featuresMorad Ansari, Kamli N W Faour, Akiko Shimamura, et al.
Brain : a Journal of Neurology|April 6, 2017
Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disordersMarkus Wolff, Katrine M Johannesen, Ulrike B S Hedrich, et al.
Nature Communications|August 22, 2024
Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathyEmily Banks, Vincent Francis, Sheng-Jia Lin, et al.
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