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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.Journal of Medical Genetics|August 16, 2014
Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicismMorad Ansari, Gemma Poke, Quentin Ferry, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 29, 2018
Correction: The landscape of epilepsy-related GATOR1 variantsSara Baldassari, Fabienne Picard, Nienke E Verbeek, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 11, 2018
The landscape of epilepsy-related GATOR1 variantsSara Baldassari, Fabienne Picard, Nienke E Verbeek, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 31, 2018
Correction to: The landscape of epilepsy-related GATOR1 variantsSara Baldassari, Fabienne Picard, Nienke E Verbeek, et al.Molecular Psychiatry|February 2, 2019
Correction: Dose response of the 16p11.2 distal copy number variant on intracranial volume and basal gangliaIda E Sønderby, Ómar Gústafsson, Nhat Trung Doan, et al.Molecular Psychiatry|October 5, 2018
Dose response of the 16p11.2 distal copy number variant on intracranial volume and basal gangliaIda E Sønderby, Ómar Gústafsson, Nhat Trung Doan, et al.Pageof 5