Associated Papers
Genetic Characterization of 128 Chinese Individuals with Neurodevelopmental Disorders via Whole-Exome Sequencing.
Qin Y et al.
Developmental Neuroscience, 2025
Author Correction: Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population.
Slavotinek A et al.
Npj Genomic Medicine, 2023
37872195 (PubMed )
Supplement: 41525_2023_382_MOESM1_ESM.pdf
A novel heterozygous ZBTB18 missense mutation in a family with non-syndromic intellectual disability.
Li N et al.
Neurogenetics, 2023
Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population.
Slavotinek A et al.
Npj Genomic Medicine, 2023
37236975 (PubMed )
Supplement: 41525_2023_353_MOESM1_ESM.pdf
Toward clinical and molecular understanding of pathogenic variants in the ZBTB18 gene.
van der Schoot V et al.
Molecular Genetics & Genomic Medicine, 2018
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
Select a paper to view details