Associated Papers
Next-Generation Sequencing to Detect Mutations for the Molecular Diagnosis of Auditory Neuropathy Spectrum Disorder in a Chinese Series.
Yuan F et al.
The Journal of International Advanced Otology, 2025
Diagnostic yield of 1000 trio analyses with exome and genome sequencing in a clinical setting.
Malmgren H et al.
Frontiers in Genetics, 2025
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
An investigation of the etiology and follow-up findings in 35 children with overgrowth syndromes, including biallelic SUZ12 variant.
Yüksel Ülker A et al.
American Journal of Medical Genetics. Part A, 2023
HIST1H1E syndrome with deficiency in multiple pituitary hormones.
Tanabe Y et al.
Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology, 2023
Approach to Cohort-Wide Re-Analysis of Exome Data in 1000 Individuals with Neurodevelopmental Disorders.
Halfmeyer I et al.
Genes, 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
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
Epigenetics and autism spectrum disorder: A report of an autism case with mutation in H1 linker histone HIST1H1E and literature review.
Duffney LJ et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2018
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