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
Clinical exome sequencing efficacy and phenotypic expansions involving non-isolated congenital anomalies of kidney and urinary tract (CAKUT+).
Rivera-Munoz EA et al.
European Journal of Human Genetics : Ejhg, 2025
40913078 (PubMed )
Supplement: NIHMS2114636-supplement-Supplemental_Table_S1.xlsx › Table_S1
A novel ZMIZ1 variant associated with NEDDFSA and new ocular features: case report and review of literature.
Javidi E et al.
Ophthalmic Genetics, 2025
Association of genetic variants, protein domains, and phenotypes in the ZMIZ1 syndromic neurodevelopmental disorder.
Cormier KE et al.
Frontiers in Neuroscience, 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
A de Novo ZMIZ1 Pathogenic Variant for Neurodevelopmental Disorder With Dysmorphic Facies and Distal Skeletal Anomalies.
Lu G et al.
Frontiers in Genetics, 2022
ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder.
Carapito R et al.
American Journal of Human Genetics, 2019
Variation in a range of mTOR-related genes associates with intracranial volume and intellectual disability.
Reijnders MRF et al.
Nature Communications, 2017
29051493 (PubMed )
Supplement: 41467_2017_933_MOESM5_ESM.xlsx › All_de_novo_mutations
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