Author

Daniel Greene

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.

Biology Disciplines

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Genetic & Genomic Medicine· 2 Genetics· 1 Genomics· 1

Signature Assays, Organisms & Methods

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Organism:human· 4 Approach:statistical model· 4 Research Focus:differential expression· 2 Research Focus:variant calling· 2 Assay:whole-genome sequencing· 2 Approach:Bayesian inference· 1 Research Focus:gene regulatory network inference· 1 Research Focus:GWAS / association mapping· 1

Frequent Co-Authors

Andrew David MumfordiD· 4 shared Ernest TurroiD· 4 shared Kathleen FresoniD· 3 shared Chantal Thys· 2 shared Frank SleutelsiD· 2 shared Jonathan C. StephensiD· 2 shared Jonathan Gill LeesiD· 2 shared Karyn MégyiD· 2 shared

Activity by Year

2018-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 35 mutual co-author links

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4 shared papersGenetic & Genomic Medicine

Andrew David MumfordORCID

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4 papers

Recent·Most cited

Biallelic variants in RNU2-2 cause the most prevalent known recessive neurodevelopmental disorder

Daniel Greene, Rodrigo Mendez, Jonathan Gill Lees, Mafalda Barbosa, Alessandro Bruselles, Luigi Chiriatti, Federico Ferraro, Cecilia Mancini, Rachel Schot, Frank Sleutels, Enrico Bertini, Devon E. Bonner, Arjan Bouman, A. N. Brooks, Thomas A. Cassini, , Ernest Turro

The paper identifies biallelic variants in RNU2-2 as a common cause of recessive neurodevelopmental disorders, showing higher prevalence than the dominant form in England.

Nature Genetics · Mar 30, 2026Peer-reviewedGenetic & Genomic Medicine

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

Whole-genome sequencing of rare disease patients in a national healthcare system

Ernest Turro, William J. Astle, Karyn Mégy, Stefan Gräf, Daniel Greene, Olga Shamardina, Hana Lango Allen, Alba Sanchis‐Juan, Mattia Frontini, Chantal Thys, Jonathan C. Stephens, Rutendo P. Mapeta, Oliver S. Burren, Kate Downes, Matthias Haimel, , Rachel J. Buchan

This study uses whole-genome sequencing in a national healthcare system to diagnose rare diseases and discover new aetiological variants, identifying 95 Mendelian associations and 4 novel non-coding disease-causing variants.

Nature · Jun 24, 2020Peer-reviewedGenomics

Diagnostic high-throughput sequencing of 2,390 patients with bleeding, thrombotic and platelet disorders

Kate Downes, Karyn Mégy, Daniel Duarte, Minka J. A. Vries, Johanna Gebhart, Stefanie Höfer, Olga Shamardina, Sri VV Deevil, Jonathan Stephens, Rutendo P. Mapeta, Salih Tuna, Namir Al Hasso, Martin W. Besser, Nichola Cooper, Louise C. Daugherty, , Kathleen Freson

The paper reports a diagnostic HTS test for bleeding, thrombotic, and platelet disorders, identifying molecular diagnoses in 897 out of 2,390 patients.

bioRxiv · Dec 21, 2018 · PreprintGenetics