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Page 1
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. Among authors: deevi svv. 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.
A dominant gain-of-function mutation in universal tyrosine kinase SRC causes thrombocytopenia, myelofibrosis, bleeding, and bone pathologies.
Turro E, Greene D, Wijgaerts A, Thys C, Lentaigne C, Bariana TK, Westbury SK, Kelly AM, Selleslag D, Stephens JC, Papadia S, Simeoni I, Penkett CJ, Ashford S, Attwood A, Austin S, Bakchoul T, Collins P, Deevi SV, Favier R, Kostadima M, Lambert MP, Mathias M, Millar CM, Peerlinck K, Perry DJ, Schulman S, Whitehorn D, Wittevrongel C; BRIDGE-BPD Consortium; De Maeyer M, Rendon A, Gomez K, Erber WN, Mumford AD, Nurden P, Stirrups K, Bradley JR, Raymond FL, Laffan MA, Van Geet C, Richardson S, Freson K, Ouwehand WH. Turro E, et al. Sci Transl Med. 2016 Mar 2;8(328):328ra30. doi: 10.1126/scitranslmed.aad7666. Epub 2016 Mar 2. Sci Transl Med. 2016. PMID: 26936507 Free PMC article.
A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders.
Simeoni I, Stephens JC, Hu F, Deevi SV, Megy K, Bariana TK, Lentaigne C, Schulman S, Sivapalaratnam S, Vries MJ, Westbury SK, Greene D, Papadia S, Alessi MC, Attwood AP, Ballmaier M, Baynam G, Bermejo E, Bertoli M, Bray PF, Bury L, Cattaneo M, Collins P, Daugherty LC, Favier R, French DL, Furie B, Gattens M, Germeshausen M, Ghevaert C, Goodeve AC, Guerrero JA, Hampshire DJ, Hart DP, Heemskerk JW, Henskens YM, Hill M, Hogg N, Jolley JD, Kahr WH, Kelly AM, Kerr R, Kostadima M, Kunishima S, Lambert MP, Liesner R, López JA, Mapeta RP, Mathias M, Millar CM, Nathwani A, Neerman-Arbez M, Nurden AT, Nurden P, Othman M, Peerlinck K, Perry DJ, Poudel P, Reitsma P, Rondina MT, Smethurst PA, Stevenson W, Szkotak A, Tuna S, van Geet C, Whitehorn D, Wilcox DA, Zhang B, Revel-Vilk S, Gresele P, Bellissimo DB, Penkett CJ, Laffan MA, Mumford AD, Rendon A, Gomez K, Freson K, Ouwehand WH, Turro E. Simeoni I, et al. Blood. 2016 Jun 9;127(23):2791-803. doi: 10.1182/blood-2015-12-688267. Epub 2016 Apr 15. Blood. 2016. PMID: 27084890 Free PMC article.
Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease.
Carss KJ, Arno G, Erwood M, Stephens J, Sanchis-Juan A, Hull S, Megy K, Grozeva D, Dewhurst E, Malka S, Plagnol V, Penkett C, Stirrups K, Rizzo R, Wright G, Josifova D, Bitner-Glindzicz M, Scott RH, Clement E, Allen L, Armstrong R, Brady AF, Carmichael J, Chitre M, Henderson RHH, Hurst J, MacLaren RE, Murphy E, Paterson J, Rosser E, Thompson DA, Wakeling E, Ouwehand WH, Michaelides M, Moore AT; NIHR-BioResource Rare Diseases Consortium; Webster AR, Raymond FL. Carss KJ, et al. Am J Hum Genet. 2017 Jan 5;100(1):75-90. doi: 10.1016/j.ajhg.2016.12.003. Epub 2016 Dec 29. Am J Hum Genet. 2017. PMID: 28041643 Free PMC article.
Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration.
Arno G, Carss KJ, Hull S, Zihni C, Robson AG, Fiorentino A; UK Inherited Retinal Disease Consortium; Hardcastle AJ, Holder GE, Cheetham ME, Plagnol V; NIHR Bioresource - Rare Diseases Consortium; Moore AT, Raymond FL, Matter K, Balda MS, Webster AR. Arno G, et al. Am J Hum Genet. 2017 Feb 2;100(2):334-342. doi: 10.1016/j.ajhg.2016.12.014. Epub 2017 Jan 26. Am J Hum Genet. 2017. PMID: 28132693 Free PMC article.
Prevalence and clinical challenges among adults with primary immunodeficiency and recombination-activating gene deficiency.
Lawless D, Geier CB, Farmer JR, Lango Allen H, Thwaites D, Atschekzei F, Brown M, Buchbinder D, Burns SO, Butte MJ, Csomos K, Deevi SVV, Egner W, Ehl S, Eibl MM, Fadugba O, Foldvari Z, Green DM, Henrickson SE, Holland SM, John T, Klemann C, Kuijpers TW, Moreira F, Piller A, Rayner-Matthews P, Romberg ND, Sargur R, Schmidt RE, Schröder C, Schuetz C, Sharapova SO, Smith KGC, Sogkas G, Speckmann C, Stirrups K, Thrasher AJ, Wolf HM, Notarangelo LD, Anwar R, Boyes J, Ujhazi B; NIHR BioResource–Rare Diseases Consortium; Thaventhiran J, Walter JE, Savic S. Lawless D, et al. Among authors: deevi svv. J Allergy Clin Immunol. 2018 Jun;141(6):2303-2306. doi: 10.1016/j.jaci.2018.02.007. Epub 2018 Mar 2. J Allergy Clin Immunol. 2018. PMID: 29477728 Free PMC article. No abstract available.
GNE variants causing autosomal recessive macrothrombocytopenia without associated muscle wasting.
Revel-Vilk S, Shai E, Turro E, Jahshan N, Hi-Am E, Spectre G, Daum H, Kalish Y, Althaus K, Greinacher A, Kaplinsky C, Izraeli S, Mapeta R, Deevi SVV, Jarocha D, Ouwehand WH, Downes K, Poncz M, Varon D, Lambert MP. Revel-Vilk S, et al. Among authors: deevi svv. Blood. 2018 Oct 25;132(17):1851-1854. doi: 10.1182/blood-2018-04-845545. Epub 2018 Aug 31. Blood. 2018. PMID: 30171045 Free PMC article. No abstract available.
Analysis of 51 proposed hypertrophic cardiomyopathy genes from genome sequencing data in sarcomere negative cases has negligible diagnostic yield.
Thomson KL, Ormondroyd E, Harper AR, Dent T, McGuire K, Baksi J, Blair E, Brennan P, Buchan R, Bueser T, Campbell C, Carr-White G, Cook S, Daniels M, Deevi SVV, Goodship J, Hayesmoore JBG, Henderson A, Lamb T, Prasad S, Rayner-Matthews P, Robert L, Sneddon L, Stark H, Walsh R, Ware JS, Farrall M, Watkins HC; NIHR BioResource – Rare Diseases Consortium. Thomson KL, et al. Among authors: deevi svv. Genet Med. 2019 Jul;21(7):1576-1584. doi: 10.1038/s41436-018-0375-z. Epub 2018 Dec 11. Genet Med. 2019. PMID: 30531895 Free PMC article.
Whole genome sequencing reveals that genetic conditions are frequent in intensively ill children.
French CE, Delon I, Dolling H, Sanchis-Juan A, Shamardina O, Mégy K, Abbs S, Austin T, Bowdin S, Branco RG, Firth H; NIHR BioResource—Rare Disease; Next Generation Children Project; Rowitch DH, Raymond FL. French CE, et al. Intensive Care Med. 2019 May;45(5):627-636. doi: 10.1007/s00134-019-05552-x. Epub 2019 Mar 7. Intensive Care Med. 2019. PMID: 30847515 Free PMC article.
32 results