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
Genome-wide sequencing and the clinical diagnosis of genetic disease: The CAUSES study.
Elliott AM et al.
Hgg Advances, 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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