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Whole-genome sequencing of a sporadic primary immunodeficiency cohort.
Thaventhiran JED, Lango Allen H, Burren OS, Rae W, Greene D, Staples E, Zhang Z, Farmery JHR, Simeoni I, Rivers E, Maimaris J, Penkett CJ, Stephens J, Deevi SVV, Sanchis-Juan A, Gleadall NS, Thomas MJ, Sargur RB, Gordins P, Baxendale HE, Brown M, Tuijnenburg P, Worth A, Hanson S, Linger RJ, Buckland MS, Rayner-Matthews PJ, Gilmour KC, Samarghitean C, Seneviratne SL, Sansom DM, Lynch AG, Megy K, Ellinghaus E, Ellinghaus D, Jorgensen SF, Karlsen TH, Stirrups KE, Cutler AJ, Kumararatne DS, Chandra A, Edgar JDM, Herwadkar A, Cooper N, Grigoriadou S, Huissoon AP, Goddard S, Jolles S, Schuetz C, Boschann F; Primary Immunodeficiency Consortium for the NIHR Bioresource; Lyons PA, Hurles ME, Savic S, Burns SO, Kuijpers TW, Turro E, Ouwehand WH, Thrasher AJ, Smith KGC. Thaventhiran JED, et al. Nature. 2020 Jul;583(7814):90-95. doi: 10.1038/s41586-020-2265-1. Epub 2020 May 6. Nature. 2020. PMID: 32499645 Free PMC article.
Publisher Correction: Whole-genome sequencing of a sporadic primary immunodeficiency cohort.
Thaventhiran JED, Lango Allen H, Burren OS, Rae W, Greene D, Staples E, Zhang Z, Farmery JHR, Simeoni I, Rivers E, Maimaris J, Penkett CJ, Stephens J, Deevi SVV, Sanchis-Juan A, Gleadall NS, Thomas MJ, Sargur RB, Gordins P, Baxendale HE, Brown M, Tuijnenburg P, Worth A, Hanson S, Linger RJ, Buckland MS, Rayner-Matthews PJ, Gilmour KC, Samarghitean C, Seneviratne SL, Sansom DM, Lynch AG, Megy K, Ellinghaus E, Ellinghaus D, Jorgensen SF, Karlsen TH, Stirrups KE, Cutler AJ, Kumararatne DS, Chandra A, Edgar JDM, Herwadkar A, Cooper N, Grigoriadou S, Huissoon AP, Goddard S, Jolles S, Schuetz C, Boschann F; Primary Immunodeficiency Consortium for the NIHR Bioresource; Lyons PA, Hurles ME, Savic S, Burns SO, Kuijpers TW, Turro E, Ouwehand WH, Thrasher AJ, Smith KGC. Thaventhiran JED, et al. Nature. 2020 Aug;584(7819):E2. doi: 10.1038/s41586-020-2556-6. Nature. 2020. PMID: 32678341
Cancelled operations: a 7-day cohort study of planned adult inpatient surgery in 245 UK National Health Service hospitals.
Wong DJN, Harris SK, Moonesinghe SR; SNAP-2: EPICCS collaborators; Health Services Research Centre, National Institute of Academic Anaesthesia; Study Steering Group; Net Solving Limited; Trainee Research Networks; Abertawe Bro Morgannwg University Health Board; Aintree University Hospitals NHS Foundation Trust; Airedale NHS Foundation Trust; Aneurin Bevan Health Board; Ashford & St Peters NHS Foundation Trust; Barking, Havering and Redbridge University Hospitals NHS Trust; Barnsley Hospital NHS Foundation Trust; Barts Health NHS Trust; Basildon and Thurrock University Hospitals NHS Foundation Trust; Bedford Hospital NHS Trust; Belfast Health and Social Care Trust; Betsi Cadwaladr University Health Board; Birmingham Women's NHS Foundation Trust; Blackpool Teaching Hospitals NHS Foundation Trust; Bolton Hospital NHS Foundation Trust; Bradford Teaching Hospitals NHS Foundation Trust; Brighton and Sussex University Hospitals NHS Trust; Buckinghamshire Healthcare NHS Trust; Burton Hospitals NHS Foundation Trust; Calderdale and Huddersfield NHS Foundation Trust; Cambridge University Hospitals NHS Foundation Trust; Cardiff and Vale University Health Board; Central Manchester Universi… See abstract for full author list ➔ Wong DJN, et al. Br J Anaesth. 2018 Oct;121(4):730-738. doi: 10.1016/j.bja.2018.07.002. Epub 2018 Sep 7. Br J Anaesth. 2018. PMID: 30236235 Free article.
Germline mutations in the transcription factor IKZF5 cause thrombocytopenia.
Lentaigne C, Greene D, Sivapalaratnam S, Favier R, Seyres D, Thys C, Grassi L, Mangles S, Sibson K, Stubbs M, Burden F, Bordet JC, Armari-Alla C, Erber W, Farrow S, Gleadall N, Gomez K, Megy K, Papadia S, Penkett CJ, Sims MC, Stefanucci L, Stephens JC, Read RJ, Stirrups KE, Ouwehand WH, Laffan MA; NIHR BioResource; Frontini M, Freson K, Turro E. Lentaigne C, et al. Among authors: stubbs m. Blood. 2019 Dec 5;134(23):2070-2081. doi: 10.1182/blood.2019000782. Blood. 2019. PMID: 31217188 Free article.
Identification of a homozygous recessive variant in PTGS1 resulting in a congenital aspirin-like defect in platelet function.
Chan MV, Hayman MA, Sivapalaratnam S, Crescente M, Allan HE, Edin ML, Zeldin DC, Milne GL, Stephens J, Greene D, Hanif M, O'Donnell VB, Dong L, Malkowski MG, Lentaigne C, Wedderburn K, Stubbs M, Downes K, Ouwehand WH, Turro E, BioResource N, Hart DP, Freson K, Laffan MA, Warner TD. Chan MV, et al. Among authors: stubbs m. Haematologica. 2021 May 1;106(5):1423-1432. doi: 10.3324/haematol.2019.235895. Haematologica. 2021. PMID: 32299908 Free PMC article.
Genetic Identification of Two Novel Loci Associated with Steroid-Sensitive Nephrotic Syndrome.
Dufek S, Cheshire C, Levine AP, Trompeter RS, Issler N, Stubbs M, Mozere M, Gupta S, Klootwijk E, Patel V, Hothi D, Waters A, Webb H, Tullus K, Jenkins L, Godinho L, Levtchenko E, Wetzels J, Knoers N, Teeninga N, Nauta J, Shalaby M, Eldesoky S, Kari JA, Thalgahagoda S, Ranawaka R, Abeyagunawardena A, Adeyemo A, Kristiansen M, Gbadegesin R, Webb NJ, Gale DP, Stanescu HC, Kleta R, Bockenhauer D. Dufek S, et al. Among authors: stubbs m. J Am Soc Nephrol. 2019 Aug;30(8):1375-1384. doi: 10.1681/ASN.2018101054. Epub 2019 Jul 1. J Am Soc Nephrol. 2019. PMID: 31263063 Free PMC article.
358 results