Author

Suzanna E.L. Temple

Liverpool HospitalORCID 0000-0002-8844-4292Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 2 Genetics· 1

Signature Assays, Organisms & Methods

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Organism:human· 3 Approach:statistical model· 3 Research Focus:differential expression· 2 Assay:ATAC-seq· 1 Assay:bulk RNA-seq· 1 Research Focus:GWAS / association mapping· 1 Research Focus:variant calling· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Kerith‐Rae DiasiD· 2 shared Seema R. LalaniiD· 2 shared Tony RoscioliiD· 2 shared Adam Nelson· 1 shared Adele Harman· 1 shared Agata SmogorzewskaiD· 1 shared Aiko Iwata‐OtsuboiD· 1 shared Aimee L. DavidsoniD· 1 shared

Activity by Year

2020-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 21 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

Kerith‐Rae DiasORCID

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Author profile →

3 papers

Recent·Most cited

Analysis of BRCA1, BRCA2 and PALB2 related Fanconi anemia identifies scope to expand disease phenotypic features and predict breast cancer risk in heterozygotes

Sharon E. Johnatty, Emma Tudini, Michael T. Parsons, Kyriaki Michailidou, Maria Zanti, Daffodil M. Canson, Aimee L. Davidson, Tamar R. Berger, Rasim Özgür Rosti, Christian Peter Kratz, Reinhard Kalb, Lisa J. McReynolds, Neelam Giri, Marcy E. Richardson, Tina F. Pesaran, , Amanda B. Spurdle

medRxiv · May 25, 2025 · PreprintGenetic & Genomic Medicine

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