Associated Papers
A Novel Homozygote Pathogenic Variant in the DIAPH1 Gene Associated With Seizures, Cortical Blindness, and Microcephaly Syndrome (SCBMS): Report of a Family and Literature Review.
Esmaeilzadeh E et al.
Molecular Genetics & Genomic Medicine, 2024
Immune dysregulation due to bi-allelic mutation of the actin remodeling protein DIAPH1.
Bhattad S et al.
Frontiers in Immunology, 2024
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.
AlAbdi L et al.
Nature Communications, 2023
The clinical utility of rapid exome sequencing in a consanguineous population.
Monies D et al.
Genome Medicine, 2023
Role of Cytoskeletal Diaphanous-Related Formins in Hearing Loss.
Chiereghin C et al.
Cells, 2022
Late-onset hearing loss case associated with a heterozygous truncating variant of DIAPH1.
Kim BJ et al.
Clinical Genetics, 2022
Homozygous Autosomal Recessive DIAPH1 Mutation Associated with Central Nervous System Involvement and Aspergillosis: A Rare Case.
Esmaeilzadeh H et al.
Case Reports in Genetics, 2022
Formins in Human Disease.
Labat-de-Hoz L et al.
Cells, 2021
Loss of DIAPH1 causes SCBMS, combined immunodeficiency, and mitochondrial dysfunction.
Kaustio M et al.
The Journal of Allergy and Clinical Immunology, 2021
DIAPH1 regulates ciliogenesis and trafficking in primary cilia.
Palander O et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2020
A novel variant in diaphanous homolog 1 (DIAPH1) as the cause of auditory neuropathy in a Chinese family.
Wu K et al.
International Journal of Pediatric Otorhinolaryngology, 2020
Extension of the clinical and molecular phenotype of DIAPH1-associated autosomal dominant hearing loss (DFNA1).
Neuhaus C et al.
Clinical Genetics, 2017
Constitutive activation of DIA1 (DIAPH1) via C-terminal truncation causes human sensorineural hearing loss.
Ueyama T et al.
Embo Molecular Medicine, 2016
Novel loss-of-function variants in DIAPH1 associated with syndromic microcephaly, blindness, and early onset seizures.
Al-Maawali A et al.
American Journal of Medical Genetics. Part A, 2016
Homozygous loss of DIAPH1 is a novel cause of microcephaly in humans.
Ercan-Sencicek AG et al.
European Journal of Human Genetics : Ejhg, 2015