Associated Papers
Classification of domains in predicted structures of the human proteome.
Schaeffer RD et al.
Proceedings of the National Academy of Sciences of the United States of America, 2023
36917664 (PubMed )
Supplement: pnas.2214069120.sd02.xlsx › Dataset_S2
Primary and Secondary Microcephaly, Global Developmental Delay, and Seizure in Two Siblings Caused by a Novel Missense Variant in the ZNF335 Gene.
Tavasoli AR et al.
Journal of Molecular Neuroscience : Mn, 2022
Whole exome analysis of patients in Japan with hearing loss reveals high heterogeneity among responsible and novel candidate genes.
Mutai H et al.
Orphanet Journal of Rare Diseases, 2022
Biallelic ZNF335 mutations cause basal ganglia abnormality with progressive cerebral/cerebellar atrophy.
Caglayan AO et al.
Journal of Neurogenetics, 2021
Expanding the clinical spectrum of biallelic ZNF335 variants.
Stouffs K et al.
Clinical Genetics, 2018
Association Between Invisible Basal Ganglia and ZNF335 Mutations: A Case Report.
Sato R et al.
Pediatrics, 2016
Compound heterozygous ZNF335 variants in a patient with microcephaly, refractory epilepsy, and severe developmental delay: A case report and literature review.
Yamoto K et al.
Congenital Anomalies, 0
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