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
Histone 3.3-related chromatinopathy: missense variants throughout H3-3A and H3-3B cause a range of functional consequences across species.
Bryant L et al.
Human Genetics, 2024
Trapping of yFACT at 3' ends of genes is not a universal characteristic of yeast versions of Bryant-Li-Bhoj syndrome histone H3 mutants.
Beard JS et al.
Micropublication Biology, 2024
Dominant effects of the histone mutant H3-L61R on Spt16-gene interactions in budding yeast.
Pablo-Kaiser A et al.
Epigenetics, 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
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