Author

Beth A. Keena

Children's Hospital of Philadelphia

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

Biology Disciplines

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Genetic & Genomic Medicine· 1 Genetics· 1

Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 1

Frequent Co-Authors

Elaine H. ZackaiiD· 2 shared Adele Harman· 1 shared Aiko Iwata‐OtsuboiD· 1 shared Allan Micheil InnesiD· 1 shared Alyssa L. RippertiD· 1 shared Amalia GoulaiD· 1 shared Andreas RoosiD· 1 shared Andrew A. Schmanski· 1 shared

Activity by Year

2020-2022 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 27 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Elaine H. ZackaiORCID

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2 papers

Recent·Most cited

A clustering of missense variants in the crucial chromatin modifier WDR5 defines a new neurodevelopmental disorder

Lot Snijders Blok, Jolijn J. A. Verseput, Dmitrijs Rots, Hanka Venselaar, Allan Micheil Innes, Connie T.R.M. Schrander-Stumpel, Katrin Õunap, Karit Reinson, Eleanor G. Seaby, Shane A McKee, Barbara K. Burton, Katherine K. Kim, Johanna M. van Hagen, Quinten Waisfisz, Pascal Joset, , Tjitske Kleefstra

The paper identifies six rare de novo missense variants in WDR5 associated with neurodevelopmental disorders and highlights their impact on COMPASS family protein interactions.

Human Genetics and Genomics Advances · Nov 1, 2022Peer-reviewedGenetic & Genomic Medicine

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