Associated Papers
ZMIZ1-Associated Neurodevelopmental Disorder in a 52-Year-Old Woman.
Rogan S et al.
American Journal of Medical Genetics. Part A, 2026
Genetic and functional analysis of ZMIZ1 in neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies (NEDDFSA): insights from muscle cells and signaling pathways.
Li S et al.
Pediatric Research, 2025
A novel ZMIZ1 variant associated with NEDDFSA and new ocular features: case report and review of literature.
Javidi E et al.
Ophthalmic Genetics, 2025
Clinical report and genetic analysis of a novel variant in ZMIZ1 causing neurodevelopmental disorder with dysmorphic factors and distal skeletal anomalies in a Chinese family.
He L et al.
Genes & Genomics, 2024
Single-cell sequencing reveals CD133+CD44--originating evolution and novel stemness related variants in human colorectal cancer.
Zhang X et al.
Ebiomedicine, 2022
35785618 (PubMed )
Supplement: mmc1.xlsx › Supplementary_Table_2b
A de Novo ZMIZ1 Pathogenic Variant for Neurodevelopmental Disorder With Dysmorphic Facies and Distal Skeletal Anomalies.
Lu G et al.
Frontiers in Genetics, 2022
35432459 (PubMed )
Supplement: Table2.xlsx › AJHG
Evaluating variants classified as pathogenic in ClinVar in the DDD Study.
Wright CF et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
33149276 (PubMed )
Supplement: 41436_2020_1021_MOESM1_ESM.xlsx › SuppTable2_NotReported
ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder.
Carapito R et al.
American Journal of Human Genetics, 2019
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