Associated Papers
Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric central nervous system tumors.
Corbett RJ et al.
Nature Communications, 2025
41271695 (PubMed )
Supplement: 41467_2025_65190_MOESM6_ESM.xlsx › snv-indel-plp-summary
Prenatal and postnatal findings in cerebellofaciodental syndrome: a rare genetic disorder.
Nerakh G et al.
Clinical Dysmorphology, 2025
Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric CNS tumors.
Corbett RJ et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
39974082 (PubMed )
Supplement: media-5.xlsx › TableS4A-snv-indel-plp-summary
Identification of novel variants in BRF1 gene from patient with developmental delay, hearing abnormality, and nervous system anomalies.
Yin H et al.
International Journal of Developmental Neuroscience : the Official Journal of the International Society for Developmental Neuroscience, 2024
Cerebellofaciodental syndrome in an adult patient: Expanding the phenotypic and natural history characteristics.
Honjo RS et al.
American Journal of Medical Genetics. Part A, 2021
Expanding the phenotype of cerebellar-facial-dental syndrome: Two siblings with a novel variant in BRF1.
Valenzuela I et al.
American Journal of Medical Genetics. Part A, 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
Association Between Germline Mutations in BRF1, a Subunit of the RNA Polymerase III Transcription Complex, and Hereditary Colorectal Cancer.
Bellido F et al.
Gastroenterology, 2018
BRF1 mutations in a family with growth failure, markedly delayed bone age, and central nervous system anomalies.
Jee YH et al.
Clinical Genetics, 2017
iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.
Wang M et al.
Scientific Reports, 2016
27527004 (PubMed )
Supplement: srep31321-s3.xls › NovelVar
BRF1 mutations alter RNA polymerase III-dependent transcription and cause neurodevelopmental anomalies.
Borck G et al.
Genome Research, 2015
BRF1 mutations alter RNA polymerase III-dependent transcription and cause neurodevelopmental anomalies.
Borck G et al.
Genome Research, 2015
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