The Deubiquitinating Enzyme USP7 Regulates Androgen Receptor Activity by Modulating Its Binding to Chromatin
2015 · Journal of Biological Chemistry · 70 citations
https://doi.org/10.1074/jbc.m114.628255
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Kosuke Izumi
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Kosuke Izumi is an academic researcher from Children's Hospital of Philadelphia. The author has contributed to research in topics: Genomic variations and chromosomal abnormalities & Genomics and Rare Diseases & Genetics and Neurodevelopmental Disorders. The author has an h-index of 32, co-authored 143 publications.
ORCID: 0000-0002-7922-7480Papers by this author
worksLoss-of-function variants in SRRM2 cause a neurodevelopmental disorder
2022 · Genetics in Medicine · 44 citations
https://doi.org/10.1016/j.gim.2022.04.011
Large-scale mutational analysis identifies UNC93B1 variants that drive TLR-mediated autoimmunity in mice and humans
2024 · The Journal of Experimental Medicine · 32 citations
https://doi.org/10.1084/jem.20232005
Bi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairment
2023 · npj Genomic Medicine · 16 citations
https://doi.org/10.1038/s41525-022-00343-8
Clinical variants paired with phenotype: A rich resource for brain gene curation
2023 · Genetics in Medicine · 11 citations
https://doi.org/10.1016/j.gim.2023.101035
Molecular Diagnostic Outcomes from 700 Cases
2022 · Journal of Molecular Diagnostics · 10 citations
https://doi.org/10.1016/j.jmoldx.2021.12.002
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