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Epilepsia|January 10, 2018
Defining the phenotypic spectrum of SLC6A1 mutationsKatrine M Johannesen, Elena Gardella, Tarja Linnankivi, et al.Nucleic Acids Research|November 13, 2013
The Human Phenotype Ontology project: linking molecular biology and disease through phenotype dataSebastian Köhler, Sandra C Doelken, Christopher J Mungall, et al.Medrxiv : the Preprint Server for Health Sciences|January 27, 2025
The natural history of CDKL5 deficiency disorder into adulthoodAngel Aledo-Serrano, David Lewis-Smith, Helen Leonard, et al.Nucleic Acids Research|November 9, 2019
The Monarch Initiative in 2019: an integrative data and analytic platform connecting phenotypes to genotypes across speciesKent A Shefchek, Nomi L Harris, Michael Gargano, et al.Neurology|May 11, 2016
Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathyJohannes R Lemke, Kirsten Geider, Katherine L Helbig, et al.Nucleic Acids Research|December 1, 2016
The Human Phenotype Ontology in 2017Sebastian Köhler, Nicole A Vasilevsky, Mark Engelstad, et al.Neurology|January 2, 2024
Molecular and Phenotypic Characterization of the RORB-Related DisorderZeynep Gokce-Samar, Annalisa Vetro, Julitta De Bellescize, et al.Nature Communications|October 31, 2019
Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2Mark A Corbett, Thessa Kroes, Liana Veneziano, et al.Nature Genetics|August 13, 2013
Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikesJohannes R Lemke, Dennis Lal, Eva M Reinthaler, et al.Movement Disorders : Official Journal of the Movement Disorder Society|August 23, 2022
Common Variants Near ZIC1 and ZIC4 in Autopsy-Confirmed Multiple System AtrophyFranziska Hopfner, Anja K Tietz, Viktoria C Ruf, et al.Pageof 33