Associated Papers
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
Dominant effects of the histone mutant H3-L61R on Spt16-gene interactions in budding yeast.
Pablo-Kaiser A et al.
Epigenetics, 2022
Gene of the month: H3F3A and H3F3B.
Aldera AP et al.
Journal of Clinical Pathology, 2022
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 › Sheet1
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
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