Author

Deirdre E. Donnelly

Belfast City HospitalORCID 0000-0001-9389-9155Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 2

Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Research Focus:variant calling· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Afif Ben‐MahmoudiD· 1 shared Alain VerloèsiD· 1 shared Amit SinghiD· 1 shared Ana Isabel Vega Pajares· 1 shared Andrea Katrinecz· 1 shared Andrea Sariego JamardoiD· 1 shared Andrew David MumfordiD· 1 shared Ángel CarracedoiD· 1 shared

Activity by Year

2025-2025 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 21 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Afif Ben‐MahmoudORCID

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2 papers

Recent·Most cited

Mutations in the U2 snRNA gene RNU2-2P cause a severe neurodevelopmental disorder with prominent epilepsy

Daniel Greene, Koenraad De Wispelaere, Jonathan Gill Lees, Marta Codina‐Solà, Brynjar Ö. Jensson, Emma Hales, Andrea Katrinecz, Esther Nieto Molina, Sónia Pascoal, Rolph Pfundt, Rachel Schot, Marta Sevilla Porras, Frank Sleutels, Irene Valenzuela, Robin Wijngaard, , Ernest Turro

The paper identifies recurrent mutations in the RNU2-2P gene, which encodes U2 snRNA, as a cause of a severe neurodevelopmental disorder with prominent epilepsy.

Nature Genetics · Apr 10, 2025Peer-reviewedGenetic & Genomic Medicine

De novo variants in KDM2A cause a syndromic neurodevelopmental disorder

Eric Nathaniel Anderson, Stephan Drukewitz, Sukhleen Kour, Anuradha Venkatakrishnan Chimata, Deepa Soundara Rajan, Senta Schönnagel, Karen Lucy Stals, Deirdre E. Donnelly, Siobhan O’Sullivan, John F. Mantovani, Tiong Yang Tan, Zornitza Stark, Pia Zacher, Nicolas Chatron, Pauline Monin, , Konrad Platzer

This study identifies de novo KDM2A variants as a cause of a syndromic neurodevelopmental disorder with specific clinical features and functional consequences.

medRxiv · Mar 31, 2025 · PreprintGenetic & Genomic Medicine