Associated Papers
A novel heterozygous ZBTB18 missense mutation in a family with non-syndromic intellectual disability.
Li N et al.
Neurogenetics, 2023
Understanding the impact of ZBTB18 missense variation on transcription factor function in neurodevelopment and disease.
Heng JI et al.
Journal of Neurochemistry, 2022
Structure-Based Approaches to Classify the Functional Impact of ZBTB18 Missense Variants in Health and Disease.
Blake S et al.
Acs Chemical Neuroscience, 2021
Nervous system regulated by POZ domain Krüppel-like zinc finger (POK) family transcription repressor RP58.
Okado H
British Journal of Pharmacology, 2021
General population ZBTB18 missense variants influence DNA binding and transcriptional regulation.
Hemming IA et al.
Human Mutation, 2020
Disease-associated missense variants in ZBTB18 disrupt DNA binding and impair the development of neurons within the embryonic cerebral cortex.
Hemming IA et al.
Human Mutation, 2019
Toward clinical and molecular understanding of pathogenic variants in the ZBTB18 gene.
van der Schoot V et al.
Molecular Genetics & Genomic Medicine, 2018
The emerging genetic landscape of cerebral palsy.
van Eyk CL et al.
Handbook of Clinical Neurology, 2018
A Comprehensive Atlas of E3 Ubiquitin Ligase Mutations in Neurological Disorders.
George AJ et al.
Frontiers in Genetics, 2018
29491882 (PubMed )
Supplement: Table2.xlsx › Sheet1
Impact of clinical exomes in neurodevelopmental and neurometabolic disorders.
Evers C et al.
Molecular Genetics and Metabolism, 2017
Further evidence that de novo missense and truncating variants in ZBTB18 cause intellectual disability with variable features.
Cohen JS et al.
Clinical Genetics, 2017
Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU.
Depienne C et al.
Human Genetics, 2017
Clinical whole exome sequencing in child neurology practice.
Srivastava S et al.
Annals of Neurology, 2014
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