Associated Papers
Paroxysmal Dyskinesia with a Novel Variant in the Histone 3 Family 3B (H3-3B) Gene.
D'Onofrio G et al.
Movement Disorders Clinical Practice, 2026
Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals.
Layo-Carris DE et al.
European Journal of Human Genetics : Ejhg, 2024
38678163 (PubMed )
Supplement: 41431_2024_1610_MOESM3_ESM.xlsx › Main_sheet
Integrating RNA-Seq into genome sequencing workflow enhances the analysis of structural variants causing neurodevelopmental disorders.
Riquin K et al.
Journal of Medical Genetics, 2023
Combined exome analysis and exome depth assessment achieve a high diagnostic yield in an epilepsy case series, revealing significant genomic heterogeneity and novel mechanisms.
Veltra D et al.
Expert Review of Molecular Diagnostics, 2023
Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients.
Bryant L et al.
Science Advances, 2020
33268356 (PubMed )
Supplement: abc9207_Table_S1.xlsx › Sheet2
Clinical Next Generation Sequencing Reveals an H3F3A Gene as a New Potential Gene Candidate for Microcephaly Associated with Severe Developmental Delay, Intellectual Disability and Growth Retardation.
Maver A et al.
Balkan Journal of Medical Genetics : Bjmg, 2019
Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases.
Farwell Hagman KD et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
Select a paper to view details