Author

Emma Hales

University of Cambridge

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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Genetic & Genomic Medicine· 1

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Organism:human· 1 Approach:statistical model· 1

Frequent Co-Authors

Ana Isabel Vega Pajares· 1 shared Andrea Katrinecz· 1 shared Andrea Sariego JamardoiD· 1 shared Andrew David MumfordiD· 1 shared Ángel CarracedoiD· 1 shared Anna Duat RodrígueziD· 1 shared Antonio Federico Martínez‐MonsenyiD· 1 shared Barbara Fernández Garoz· 1 shared

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2025-2025 · peak 1/yr

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10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Ana Isabel Vega Pajares

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1 paper

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