Associated Papers
Multiscale characterization of Caenorhabditis elegans mutants to probe functional mechanisms of human actin pathological variants.
Hecquet T et al.
Iscience, 2025
Hearing Loss in Baraitser-Winter Syndrome: Case Reports and Review of the Literature.
Ghiselli S et al.
Journal of Clinical Medicine, 2024
De Novo ACTG1 Variant Expands the Phenotype and Genotype of Partial Deafness and Baraitser-Winter Syndrome.
Dawidziuk M et al.
International Journal of Molecular Sciences, 2022
DFNA20/26 and Other ACTG1-Associated Phenotypes: A Case Report and Review of the Literature.
Sorrentino U et al.
Audiology Research, 2021
34698053 (PubMed )
Supplement: audiolres-11-00052-s001.zip › audiolres-1399936-supplementary.pdf
The First Korean Case of Baraitser-Winter Cerebro-Fronto-Facial Syndrome with a Novel Mutation in ACTB Diagnosed Via Targeted Gene Panel Sequencing and Literature Review.
Choi GJ et al.
Annals of Clinical and Laboratory Science, 2020
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
31345222 (PubMed )
Supplement: 12920_2019_543_MOESM5_ESM.xlsx › S4
A novel missense mutation in the ACTG1 gene in a family with congenital autosomal dominant deafness: A case report.
Lee CG et al.
Molecular Medicine Reports, 2018
A recurrent de novo mutation in ACTG1 causes isolated ocular coloboma.
Rainger J et al.
Human Mutation, 2017
Baraitser-Winter cerebrofrontofacial syndrome.
Yates TM et al.
Clinical Genetics, 2017
The Clinical Manifestations and Genetic Implications of Baraitser-Winter Syndrome Type 2.
Allawh TC et al.
Journal of Pediatric Genetics, 2017
Acute myeloid leukemia in Baraitser-Winter cerebrofrontofacial syndrome.
Cianci P et al.
American Journal of Medical Genetics. Part A, 2017
Update on the ACTG1-associated Baraitser-Winter cerebrofrontofacial syndrome.
Di Donato N et al.
American Journal of Medical Genetics. Part A, 2016
De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome.
Rivière JB et al.
Nature Genetics, 2012
Select a paper to view details