Associated Papers
A Rare Presentation of HIST1H1E Syndrome with Short Stature and Multiple Pituitary Hormone Deficiencies.
Altun İ et al.
Journal of Clinical Research in Pediatric Endocrinology, 2025
A Robust and Comprehensive Study of the Molecular and Genetic Basis of Neurodevelopmental Delay in a Sample of 3244 Patients, Evaluated by Exome Analysis in a Latin Population.
Lamilla J et al.
Diagnostics (basel, Switzerland), 2025
Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.
Laurie S et al.
Nature Medicine, 2025
A Comparison of Structural Variant Calling from Short-Read and Nanopore-Based Whole-Genome Sequencing Using Optical Genome Mapping as a Benchmark.
Pei Y et al.
Genes, 2024
Development of a mouse embryonic stem cell model for investigating the functions of the linker histone H1-4.
Abu Alhaija AA et al.
Febs Open Bio, 2024
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
Mutations of the histone linker H1-4 in neurodevelopmental disorders and functional characterization of neurons expressing C-terminus frameshift mutant H1.4.
Tremblay MW et al.
Human Molecular Genetics, 2022
Diagnostic performance of automated, streamlined, daily updated exome analysis in patients with neurodevelopmental delay.
Seo GH et al.
Molecular Medicine (cambridge, Mass.), 2022
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
Diagnostic yield and clinical utility of whole exome sequencing using an automated variant prioritization system, EVIDENCE.
Seo GH et al.
Clinical Genetics, 2020
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.
Wang T et al.
Nature Communications, 2020
Frameshift mutations at the C-terminus of HIST1H1E result in a specific DNA hypomethylation signature.
Ciolfi A et al.
Clinical Epigenetics, 2020
HIST1H1E heterozygous protein-truncating variants cause a recognizable syndrome with intellectual disability and distinctive facial gestalt: A study to clarify the HIST1H1E syndrome phenotype in 30 individuals.
Burkardt DD et al.
American Journal of Medical Genetics. Part A, 2019
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
39th Annual David W. Smith Workshop on Malformations and Morphogenesis: Abstracts of the 2018 Annual Meeting.
Boycott KM et al.
American Journal of Medical Genetics. Part A, 2019
Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability.
Tatton-Brown K et al.
American Journal of Human Genetics, 2017