Author

Kerith‐Rae Dias

UNSW SydneyORCID 0000-0002-4707-8089Unclaimed ORCID profile · follow to get notified of new preprints

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· 2 Assay:ATAC-seq· 1 Assay:bulk RNA-seq· 1 Research Focus:differential expression· 1 Research Focus:GWAS / association mapping· 1 Research Focus:variant calling· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Suzanna E.L. TempleiD· 2 shared Tony RoscioliiD· 2 shared Adele Harman· 1 shared Aiko Iwata‐OtsuboiD· 1 shared Alan S. MaiD· 1 shared Alexandra C Martin-GearyiD· 1 shared Alicia LjungdahliD· 1 shared Alison G. ComptoniD· 1 shared

Activity by Year

2020-2024 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 30 mutual co-author links

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Focal author (center)Selected co-authorORCID co-authorUnlinked name

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2 shared papersGenetic & Genomic Medicine

Suzanna E.L. TempleORCID

Mutual co-authors in cluster

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2 papers

Recent·Most cited

De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders

Yuyang Chen, Ruebena Dawes, Hyung Chul Kim, Alicia Ljungdahl, Sarah L. Stenton, Susan Walker, Jenny Lord, Gabrielle Lemire, Alexandra C Martin-Geary, Vijay S Ganesh, Jialan Ma, Jamie M. Ellingford, Erwan Delage, Elston N. D’Souza, Shan Dong, , David H. Viskochil

Mostly de novo variants in an 18 bp constrained region of U4 snRNA gene RNU4-2 cause a syndromic neurodevelopmental disorder, estimated to explain 0.41% of cases.

Nature · Jul 11, 2024Peer-reviewedGenetic & Genomic Medicine✦ In-depth digest

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