Single substitution in H3.3G34 alters DNMT3A recruitment to cause progressive neurodegeneration
2023 · Cell · 60 citations
https://doi.org/10.1016/j.cell.2023.02.023
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Ben Cocanougher
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Ben Cocanougher is an academic researcher from Cincinnati Children's Hospital Medical Center. The author has contributed to research in topics: Invertebrate Immune Response Mechanisms & Neurobiology and Insect Physiology Research & Insect and Arachnid Ecology and Behavior. The author has an h-index of 12, co-authored 64 publications.
ORCID: 0000-0003-0648-554XPapers by this author
worksCompound heterozygosity with a novel S222N GALT mutation leads to atypical galactosemia with loss of GALT activity in erythrocytes but little evidence of clinical disease
2015 · Molecular Genetics and Metabolism Reports · 3 citations
https://doi.org/10.1016/j.ymgmr.2014.12.004
Biochemical and computational analyses of two phenotypically related GALT mutations (S222N and S135L) that lead to atypical galactosemia
2015 · Data in Brief · 2 citations
https://doi.org/10.1016/j.dib.2015.01.001
Correction: Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals
2024 · European Journal of Human Genetics · 2 citations
https://doi.org/10.1038/s41431-024-01659-y
P748: Duplication of 12q24.11-q24.31 in a patient with Noonan-like features
2024 · Genetics in Medicine Open · 0 citations
https://doi.org/10.1016/j.gimo.2024.101652
Additional file 12 of Single cell RNA-seq analysis reveals temporally-regulated and quiescence-regulated gene expression in Drosophila larval neuroblasts
2022 · Figshare · 0 citations
https://doi.org/10.6084/m9.figshare.20619817
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