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Brain : a Journal of Neurology|October 8, 2025
EIPR1 variants cause a neurodevelopmental disorder with endolysosomal and dense core vesicle defectsSaikat Ghosh, Jaskaran Singh, Nadirah S Damseh, et al.Nature Communications|February 14, 2019
Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafishAleksandra Siekierska, Hannah Stamberger, Tine Deconinck, et al.American Journal of Human Genetics|February 2, 2022
Bi-allelic variants in neuronal cell adhesion molecule cause a neurodevelopmental disorder characterized by developmental delay, hypotonia, neuropathy/spasticityAlina Kurolap, Florian Kreuder, Claudia Gonzaga-Jauregui, et al.American Journal of Human Genetics|November 4, 2017
De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental DisorderDavor Lessel, Claudia Schob, Sébastien Küry, et al.American Journal of Human Genetics|March 28, 2017
Biallelic Variants in OTUD6B Cause an Intellectual Disability Syndrome Associated with Seizures and Dysmorphic FeaturesTeresa Santiago-Sim, Lindsay C Burrage, Frédéric Ebstein, et al.Brain Communications|November 6, 2024
Autosomal recessive <i>VWA1</i>-related disorder: comprehensive analysis of phenotypic variability and genetic mutationsSara Nagy, Alistair T Pagnamenta, Elisa Cali, et al.Journal of Medical Genetics|May 16, 2020
<i>De novo</i> mutations in the X-linked <i>TFE3</i> gene cause intellectual disability with pigmentary mosaicism and storage disorder-like featuresDaphné Lehalle, Pierre Vabres, Arthur Sorlin, et al.Nature Communications|November 3, 2020
CFAP45 deficiency causes situs abnormalities and asthenospermia by disrupting an axonemal adenine nucleotide homeostasis moduleGerard W Dougherty, Katsutoshi Mizuno, Tabea Nöthe-Menchen, et al.Genome Medicine|March 27, 2019
Correction to: De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndromeFrancesco Vetrini, Shane McKee, Jill A Rosenfeld, et al.Genome Medicine|March 2, 2019
De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndromeFrancesco Vetrini, Shane McKee, Jill A Rosenfeld, et al.Pageof 22