Author

Shin-Ya Isobe

The University of Osaka

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

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Genetics· 1

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Organism:human· 1 Approach:statistical model· 1

Frequent Co-Authors

Adele Harman· 1 shared Aiko Iwata‐OtsuboiD· 1 shared Alyssa L. RippertiD· 1 shared Beth A. Keena· 1 shared Betsy SchmalziD· 1 shared Carey‐Anne EvansiD· 1 shared Chikashi Obuse· 1 shared Daniel C. KoboldtiD· 1 shared

Activity by Year

2020-2020 · peak 1/yr

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10 top collaborators · 45 mutual co-author links

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1 shared paperGenetics

Adele Harman

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1 paper

Recent·Most cited

Dominant-negative mutations in CBX1 cause a neurodevelopmental disorder

Yukiko Kuroda, Aiko Iwata‐Otsubo, Kerith‐Rae Dias, Suzanna E.L. Temple, Koji Nagao, Lachlan De Hayr, Ying Zhu, Shin-Ya Isobe, Gohei Nishibuchi, Sarah K. Fiordaliso, Yuki Fujita, Alyssa L. Rippert, Samuel W Baker, Marco L. Leung, Daniel C. Koboldt, , Kosuke Izumi

This study identifies de novo CBX1 variants in three individuals with neurodevelopmental features and shows they cause dominant-negative effects by disrupting HP1β chromatin binding.

bioRxiv · Sep 29, 2020 · PreprintGenetics