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Developmental Cell|April 2, 2019
The Pediatric Cell Atlas: Defining the Growth Phase of Human Development at Single-Cell ResolutionDeanne M Taylor, Bruce J Aronow, Kai Tan, 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 Genetics|July 2, 2021
Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndromeMargot A Cousin, Blake A Creighton, Keith A Breau, et al.American Journal of Human Genetics|April 28, 2021
Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphismMaya Chopra, Meriel McEntagart, Jill Clayton-Smith, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 4, 2018
Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patientsCyril Mignot, Aoife C McMahon, Claire Bar, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 13, 2018
IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patientsCyril Mignot, Aoife C McMahon, Claire Bar, et al.American Journal of Human Genetics|May 14, 2019
Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and EpilepsyAnne H O'Donnell-Luria, Lynn S Pais, Víctor Faundes, et al.Human Molecular Genetics|September 6, 2012
Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32, , Michael Steffens, et al.The Lancet. Neurology|July 24, 2018
Rare coding variants in genes encoding GABAA receptors in genetic generalised epilepsies: an exome-based case-control studyPatrick May, Simon Girard, Merle Harrer, et al.American Journal of Human Genetics|September 9, 2025
A clinical and genotype-phenotype analysis of MACF1 variantsJordy Dekker, Rachel Schot, Kimberly A Aldinger, et al.Pageof 33