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Page 1
Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases.
Pagnamenta AT, Camps C, Giacopuzzi E, Taylor JM, Hashim M, Calpena E, Kaisaki PJ, Hashimoto A, Yu J, Sanders E, Schwessinger R, Hughes JR, Lunter G, Dreau H, Ferla M, Lange L, Kesim Y, Ragoussis V, Vavoulis DV, Allroggen H, Ansorge O, Babbs C, Banka S, Baños-Piñero B, Beeson D, Ben-Ami T, Bennett DL, Bento C, Blair E, Brasch-Andersen C, Bull KR, Cario H, Cilliers D, Conti V, Davies EG, Dhalla F, Dacal BD, Dong Y, Dunford JE, Guerrini R, Harris AL, Hartley J, Hollander G, Javaid K, Kane M, Kelly D, Kelly D, Knight SJL, Kreins AY, Kvikstad EM, Langman CB, Lester T, Lines KE, Lord SR, Lu X, Mansour S, Manzur A, Maroofian R, Marsden B, Mason J, McGowan SJ, Mei D, Mlcochova H, Murakami Y, Németh AH, Okoli S, Ormondroyd E, Ousager LB, Palace J, Patel SY, Pentony MM, Pugh C, Rad A, Ramesh A, Riva SG, Roberts I, Roy N, Salminen O, Schilling KD, Scott C, Sen A, Smith C, Stevenson M, Thakker RV, Twigg SRF, Uhlig HH, van Wijk R, Vona B, Wall S, Wang J, Watkins H, Zak J, Schuh AH, Kini U, Wilkie AOM, Popitsch N, Taylor JC. Pagnamenta AT, et al. Among authors: bull kr. Genome Med. 2023 Nov 9;15(1):94. doi: 10.1186/s13073-023-01240-0. Genome Med. 2023. PMID: 37946251 Free PMC article.
Factors influencing success of clinical genome sequencing across a broad spectrum of disorders.
Taylor JC, Martin HC, Lise S, Broxholme J, Cazier JB, Rimmer A, Kanapin A, Lunter G, Fiddy S, Allan C, Aricescu AR, Attar M, Babbs C, Becq J, Beeson D, Bento C, Bignell P, Blair E, Buckle VJ, Bull K, Cais O, Cario H, Chapel H, Copley RR, Cornall R, Craft J, Dahan K, Davenport EE, Dendrou C, Devuyst O, Fenwick AL, Flint J, Fugger L, Gilbert RD, Goriely A, Green A, Greger IH, Grocock R, Gruszczyk AV, Hastings R, Hatton E, Higgs D, Hill A, Holmes C, Howard M, Hughes L, Humburg P, Johnson D, Karpe F, Kingsbury Z, Kini U, Knight JC, Krohn J, Lamble S, Langman C, Lonie L, Luck J, McCarthy D, McGowan SJ, McMullin MF, Miller KA, Murray L, Németh AH, Nesbit MA, Nutt D, Ormondroyd E, Oturai AB, Pagnamenta A, Patel SY, Percy M, Petousi N, Piazza P, Piret SE, Polanco-Echeverry G, Popitsch N, Powrie F, Pugh C, Quek L, Robbins PA, Robson K, Russo A, Sahgal N, van Schouwenburg PA, Schuh A, Silverman E, Simmons A, Sørensen PS, Sweeney E, Taylor J, Thakker RV, Tomlinson I, Trebes A, Twigg SR, Uhlig HH, Vyas P, Vyse T, Wall SA, Watkins H, Whyte MP, Witty L, Wright B, Yau C, Buck D, Humphray S, Ratcliffe PJ, Bell JI, Wilkie AO, Bentley D, Donnelly P, McVean G. Taylor JC, et al. Nat Genet. 2015 Jul;47(7):717-726. doi: 10.1038/ng.3304. Epub 2015 May 18. Nat Genet. 2015. PMID: 25985138 Free PMC article.
Unlocking the bottleneck in forward genetics using whole-genome sequencing and identity by descent to isolate causative mutations.
Bull KR, Rimmer AJ, Siggs OM, Miosge LA, Roots CM, Enders A, Bertram EM, Crockford TL, Whittle B, Potter PK, Simon MM, Mallon AM, Brown SD, Beutler B, Goodnow CC, Lunter G, Cornall RJ. Bull KR, et al. PLoS Genet. 2013;9(1):e1003219. doi: 10.1371/journal.pgen.1003219. Epub 2013 Jan 31. PLoS Genet. 2013. PMID: 23382690 Free PMC article.
Interventions for chronic kidney disease in people with sickle cell disease.
Roy NB, Fortin PM, Bull KR, Doree C, Trivella M, Hopewell S, Estcourt LJ. Roy NB, et al. Among authors: bull kr. Cochrane Database Syst Rev. 2017 Jul 3;7(7):CD012380. doi: 10.1002/14651858.CD012380.pub2. Cochrane Database Syst Rev. 2017. PMID: 28672087 Free PMC article. Updated. Review.
Interventions for chronic kidney disease in people with sickle cell disease.
Roy NB, Fortin PM, Bull KR, Doree C, Trivella M, Hopewell S, Estcourt LJ. Roy NB, et al. Among authors: bull kr. Cochrane Database Syst Rev. 2016 Oct;2016(10):CD012380. doi: 10.1002/14651858.CD012380. Cochrane Database Syst Rev. 2016. PMID: 28344511 Free PMC article. Updated.
Exploring the relevance of NUP93 variants in steroid-resistant nephrotic syndrome using next generation sequencing and a fly kidney model.
Bierzynska A, Bull K, Miellet S, Dean P, Neal C, Colby E, McCarthy HJ, Hegde S, Sinha MD, Bugarin Diz C, Stirrups K, Megy K, Mapeta R, Penkett C, Marsh S, Forrester N, Afzal M, Stark H, BioResource N, Williams M, Welsh GI, Koziell AB, Hartley PS, Saleem MA. Bierzynska A, et al. Pediatr Nephrol. 2022 Nov;37(11):2643-2656. doi: 10.1007/s00467-022-05440-5. Epub 2022 Feb 24. Pediatr Nephrol. 2022. PMID: 35211795 Free PMC article.
Mutation of Fnip1 is associated with B-cell deficiency, cardiomyopathy, and elevated AMPK activity.
Siggs OM, Stockenhuber A, Deobagkar-Lele M, Bull KR, Crockford TL, Kingston BL, Crawford G, Anzilotti C, Steeples V, Ghaffari S, Czibik G, Bellahcene M, Watkins H, Ashrafian H, Davies B, Woods A, Carling D, Yavari A, Beutler B, Cornall RJ. Siggs OM, et al. Among authors: bull kr. Proc Natl Acad Sci U S A. 2016 Jun 28;113(26):E3706-15. doi: 10.1073/pnas.1607592113. Epub 2016 Jun 14. Proc Natl Acad Sci U S A. 2016. PMID: 27303042 Free PMC article.
Systemic silencing of PHD2 causes reversible immune regulatory dysfunction.
Yamamoto A, Hester J, Macklin PS, Kawai K, Uchiyama M, Biggs D, Bishop T, Bull K, Cheng X, Cawthorne E, Coleman ML, Crockford TL, Davies B, Dow LE, Goldin R, Kranc K, Kudo H, Lawson H, McAuliffe J, Milward K, Scudamore CL, Soilleux E, Issa F, Ratcliffe PJ, Pugh CW. Yamamoto A, et al. J Clin Invest. 2019 Jun 4;129(9):3640-3656. doi: 10.1172/JCI124099. J Clin Invest. 2019. PMID: 31162141 Free PMC article.
32 results