Associated Papers
Identification of a Novel Likely Pathogenic Variant of DIAPH3 Associated With New Phenotype of Sensorineural Hearing Loss.
Zeng L et al.
Molecular Genetics & Genomic Medicine, 2026
Role of Cytoskeletal Diaphanous-Related Formins in Hearing Loss.
Chiereghin C et al.
Cells, 2022
35681420 (PubMed )
Supplement: cells-11-01726-s001.zip › cells-1661972-supplementary.xlsx › Table_S2_other_phenotypes
DIAPH3 deficiency links microtubules to mitotic errors, defective neurogenesis, and brain dysfunction.
Lau EO et al.
Elife, 2021
High-frequency actionable pathogenic exome variants in an average-risk cohort.
Rego S et al.
Cold Spring Harbor Molecular Case Studies, 2018
30487145 (PubMed )
Supplement: supp_mcs.a003178_Supplemental_File_3.xlsx › Sheet1
Integrated analysis of germline and somatic variants in ovarian cancer.
Kanchi KL et al.
Nature Communications, 2014
24448499 (PubMed )
Supplement: NIHMS551112-supplement-19.xlsx › S_Data_18
A double hit implicates DIAPH3 as an autism risk gene.
Vorstman JA et al.
Molecular Psychiatry, 2011
Expression profiling of autism candidate genes during human brain development implicates central immune signaling pathways.
Ziats MN et al.
Plos One, 2011
21935439 (PubMed )
Supplement: pone.0024691.s010.xlsx › AutDB_Database
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