Associated Papers
Universal noninvasive prenatal diagnosis for monogenic disorders using cell-free plasma DNA.
Zhang L et al.
Genome Medicine, 2025
Assembly mechanism of Integrator's RNA cleavage module.
Sabath K et al.
Molecular Cell, 2024
Clinical characteristics of BRAT1-related disease: a systematic literature review.
Kong W et al.
Acta Neurologica Belgica, 2024
Neuronal differentiation requires BRAT1 complex to remove REST from chromatin.
Dokaneheifard S et al.
Proceedings of the National Academy of Sciences of the United States of America, 2024
BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients.
Engel C et al.
European Journal of Human Genetics : Ejhg, 2023
BRAT1 associates with INTS11/INTS9 heterodimer to regulate key neurodevelopmental genes.
Dokaneheifard S et al.
Biorxiv : the Preprint Server for Biology, 2023
Compound heterozygous loss-of-function variants in BRAT1 cause lethal neonatal rigidity and multifocal seizure syndrome.
Li S et al.
Molecular Genetics & Genomic Medicine, 2023
Novel Biallelic Variant in the BRAT1 Gene Caused Nonprogressive Cerebellar Ataxia Syndrome.
Qi Y et al.
Frontiers in Genetics, 2022
A review of the clinical spectrum of BRAT1 disorders and case of developmental and epileptic encephalopathy surviving into adulthood.
Fowkes R et al.
Epilepsy & Behavior Reports, 2022
BRAT1 Mutation: The First Reported Case of Chinese Origin and Review of the Literature.
Van Ommeren RH et al.
Journal of Neuropathology and Experimental Neurology, 2018
BRAT1-associated neurodegeneration: Intra-familial phenotypic differences in siblings.
Smith NJ et al.
American Journal of Medical Genetics. Part A, 2016
Mutations in BRAT1 cause autosomal recessive progressive encephalopathy: Report of a Spanish patient.
Fernández-Jaén A et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2016