Associated Papers
Adult genomic medicine: lessons from a multisite study of 2700 patients.
Bakur K et al.
Genome Medicine, 2025
41024252 (PubMed )
Supplement: 13073_2025_1529_MOESM6_ESM.xlsx › Sheet1
Expanding the Clinical and Molecular Spectrum of FOXG1- and ZBTB18-Associated Neurodevelopmental Disorders.
Brea-Fernández AJ et al.
Cytogenetic and Genome Research, 2023
Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.
Pejaver V et al.
American Journal of Human Genetics, 2022
36413997 (PubMed )
Supplement: mmc2.xlsx › mmc2
Understanding the impact of ZBTB18 missense variation on transcription factor function in neurodevelopment and disease.
Heng JI et al.
Journal of Neurochemistry, 2022
The Zinc Finger Protein Zbtb18 Represses Expression of Class I Phosphatidylinositol 3-Kinase Subunits and Inhibits Plasma Cell Differentiation.
Xie B et al.
Journal of Immunology (baltimore, Md. : 1950), 2021
Structure-Based Approaches to Classify the Functional Impact of ZBTB18 Missense Variants in Health and Disease.
Blake S et al.
Acs Chemical Neuroscience, 2021
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.
Wang T et al.
Nature Communications, 2020
General population ZBTB18 missense variants influence DNA binding and transcriptional regulation.
Hemming IA et al.
Human Mutation, 2020
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