Associated Papers
Establishment and validation of a phenotype-driven predictive model for the diagnostic efficacy of trio-based whole exome sequencing (trio-WES) in children with genetic neurodevelopmental disorders (g-NDDs).
Wu R et al.
Frontiers in Neurology, 2025
41170324 (PubMed )
Supplement: Data_Sheet_3.XLS › NDD-NPDs
A case report of a novel HIST1H1E mutation and a review of the bibliography to evaluate the genotype-phenotype correlations.
Zhao W et al.
Molecular Genetics & Genomic Medicine, 2023
Expanding the mutational spectrum of Rahman syndrome: A rare disorder with severe intellectual disability and particular facial features in two Chinese patients.
Zhao J et al.
Molecular Genetics & Genomic Medicine, 2022
Exome sequencing identified a novel HIST1H1E heterozygous protein-truncating variant in a 6-month-old male patient with Rahman syndrome: A case report.
Indugula SR et al.
Clinical Case Reports, 2022
Frameshift mutations at the C-terminus of HIST1H1E result in a specific DNA hypomethylation signature.
Ciolfi A et al.
Clinical Epigenetics, 2020
Aberrant Function of the C-Terminal Tail of HIST1H1E Accelerates Cellular Senescence and Causes Premature Aging.
Flex E et al.
American Journal of Human Genetics, 2019
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