Associated Papers
Coupling deep phenotypic quantification with next-generation phenotyping for 192 individuals with germline histonopathies.
Lubin EE et al.
Hgg Advances, 2025
40241305 (PubMed )
Supplement: mmc4.xlsx › Sheet10
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
40620702 (PubMed )
Supplement: Supplementaryfile1.XLSX › Blad1
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
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
36672771 (PubMed )
Supplement: genes-14-00030-s001.zip › Table_S1.xlsx › SNVs
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
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
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