26 Papers
141 Citations
Stephen Abbs is an academic researcher from Cambridge University Hospitals NHS Foundation Trust. The author has contributed to research in topics: Medicine & Genetic testing. The author has an hindex of 11, co-authored 26 publications. Previous affiliations of Stephen Abbs include National Institute for Health Research.
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Papers
Whole genome sequencing reveals that genetic conditions are frequent in intensively ill children
Courtney E. French,Isabelle Delon,Helen Dolling,Alba Sanchis-Juan,Olga Shamardina,Karyn Megy,Stephen Abbs,Topun Austin,Sarah Bowdin,Ricardo Garcia Branco,Ricardo Garcia Branco,Ricardo Garcia Branco,Helen V. Firth,Next Generation Children Project,Next Generation Children Project,David H. Rowitch,F Lucy Raymond,F Lucy Raymond +17 more
TL;DR: A gene agnostic approach was effective in identifying an underlying genetic condition, with phenotypes and symptomatology being primarily used for data interpretation rather than gene selection, and WGS analysis has the potential to be a first-line diagnostic tool for a subset of intensively ill children.
Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders
Kate Downes,Karyn Megy,Karyn Megy,Daniel Duarte,Daniel Duarte,Minka J A Vries,Johanna Gebhart,Stefanie Hofer,Olga Shamardina,Olga Shamardina,Sri V V Deevi,Sri V V Deevi,Jonathan Stephens,Jonathan Stephens,Rutendo Mapeta,Rutendo Mapeta,Salih Tuna,Salih Tuna,Namir Al Hasso,Martin Besser,Nichola Cooper,Louise C. Daugherty,Louise C. Daugherty,Nick Gleadall,Nick Gleadall,Daniel Greene,Daniel Greene,Matthias Haimel,Howard Martin,Sofia Papadia,Sofia Papadia,Shoshana Revel-Vilk,Suthesh Sivapalaratnam,Suthesh Sivapalaratnam,Suthesh Sivapalaratnam,Emily Symington,Will Thomas,Chantal Thys,Alexander Tolios,Christopher J. Penkett,Christopher J. Penkett,Willem H. Ouwehand,Stephen Abbs,Michael Laffan,Ernest Turro,Ilenia Simeoni,Ilenia Simeoni,Andrew D Mumford,Yvonne M. C. Henskens,Ingrid Pabinger,Keith Gomez,Keith Gomez,Kathleen Freson +52 more
TL;DR: A molecular diagnosis has been reported for 894 index patients providing evidence that introducing an HTS genetic test is a valuable addition to laboratory diagnostics in patients with a high likelihood of having an inherited BTPD.
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Correlation of SMNt and SMNc gene copy number with age of onset and survival in spinal muscular atrophy.
Joanne E Taylor,Neil H. Thomas,Cathryn M. Lewis,Stephen Abbs,Nanda R. Rodrigues,Kay E. Davies,Christopher G. Mathew +6 more
TL;DR: The data provide strong statistical support for the emerging consensus that the clinical phenotype in SMA is directed primarily by the level of functional SMN protein.
Profiling of Somatic Mutations in Phaeochromocytoma and Paraganglioma by Targeted Next Generation Sequencing Analysis
Andrea Luchetti,Diana Walsh,Fay Rodger,Graeme R. Clark,T.P.C. Martin,Richard M. Irving,Mario Sanna,Masahiro Yao,Mercedes Robledo,Hartmut P. H. Neumann,Emma R. Woodward,Farida Latif,Stephen Abbs,Howard Martin,Eamonn R. Maher +14 more
TL;DR: The first evidence for BRAF mutations in the pathogenesis of PCC/PGL/HNPGL is reported, suggesting that HRAS/BRAF mutations and inherited PCC-PGL genes mutations might be mutually exclusive.
New paradigms for BRCA1/BRCA2 testing in women with ovarian cancer: results of the Genetic Testing in Epithelial Ovarian Cancer (GTEOC) study
Inga Plaskocinska,Hannah Shipman,James Drummond,Edward Thompson,Vanessa Buchanan,Barbara Newcombe,Charlotte Hodgkin,Elisa Barter,Paul Ridley,Rita W Y Ng,Suzanne Miller,Adela Dann,Victoria Licence,Hayley Webb,Li Tee Tan,Margaret Daly,Sarah Ayers,Barnaby Rufford,Helena M. Earl,Christine Parkinson,Timothy Duncan,Mercedes Jimenez-Linan,Gurdeep S. Sagoo,Stephen Abbs,Nicholas J. Hulbert-Williams,Paul D.P. Pharoah,Robin Crawford,James D. Brenton,Marc Tischkowitz +28 more
TL;DR: Correlation tests indicated that although older age is a protective factor against any traumatic impacts of genetic testing, no significant correlation exists between age and distress outcomes and selected genetic testing in women with EOC was acceptable to patients and is potentially less resource-intensive than current standard practice.
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