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Year Number of Results
2008 1
2010 1
2011 1
2013 1
2014 2
2015 2
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2019 4
2020 7
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2023 4
2024 1

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Page 1
100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report.
100,000 Genomes Project Pilot Investigators; Smedley D, Smith KR, Martin A, Thomas EA, McDonagh EM, Cipriani V, Ellingford JM, Arno G, Tucci A, Vandrovcova J, Chan G, Williams HJ, Ratnaike T, Wei W, Stirrups K, Ibanez K, Moutsianas L, Wielscher M, Need A, Barnes MR, Vestito L, Buchanan J, Wordsworth S, Ashford S, Rehmström K, Li E, Fuller G, Twiss P, Spasic-Boskovic O, Halsall S, Floto RA, Poole K, Wagner A, Mehta SG, Gurnell M, Burrows N, James R, Penkett C, Dewhurst E, Gräf S, Mapeta R, Kasanicki M, Haworth A, Savage H, Babcock M, Reese MG, Bale M, Baple E, Boustred C, Brittain H, de Burca A, Bleda M, Devereau A, Halai D, Haraldsdottir E, Hyder Z, Kasperaviciute D, Patch C, Polychronopoulos D, Matchan A, Sultana R, Ryten M, Tavares ALT, Tregidgo C, Turnbull C, Welland M, Wood S, Snow C, Williams E, Leigh S, Foulger RE, Daugherty LC, Niblock O, Leong IUS, Wright CF, Davies J, Crichton C, Welch J, Woods K, Abulhoul L, Aurora P, Bockenhauer D, Broomfield A, Cleary MA, Lam T, Dattani M, Footitt E, Ganesan V, Grunewald S, Compeyrot-Lacassagne S, Muntoni F, Pilkington C, Quinlivan R, Thapar N, Wallis C, Wedderburn LR, Worth A, Bueser T, Compton C, Deshpande C, Fassihi H, Haque … See abstract for full author list ➔ 100,000 Genomes Project Pilot Investigators, et al. Among authors: quinlivan r. N Engl J Med. 2021 Nov 11;385(20):1868-1880. doi: 10.1056/NEJMoa2035790. N Engl J Med. 2021. PMID: 34758253 Free PMC article.
Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study.
Schon KR, Horvath R, Wei W, Calabrese C, Tucci A, Ibañez K, Ratnaike T, Pitceathly RDS, Bugiardini E, Quinlivan R, Hanna MG, Clement E, Ashton E, Sayer JA, Brennan P, Josifova D, Izatt L, Fratter C, Nesbitt V, Barrett T, McMullen DJ, Smith A, Deshpande C, Smithson SF, Festenstein R, Canham N, Caulfield M, Houlden H, Rahman S, Chinnery PF; Genomics England Research Consortium. Schon KR, et al. Among authors: quinlivan r. BMJ. 2021 Nov 3;375:e066288. doi: 10.1136/bmj-2021-066288. BMJ. 2021. PMID: 34732400 Free PMC article. Clinical Trial.
Bi-allelic loss-of-function OBSCN variants predispose individuals to severe recurrent rhabdomyolysis.
Cabrera-Serrano M, Caccavelli L, Savarese M, Vihola A, Jokela M, Johari M, Capiod T, Madrange M, Bugiardini E, Brady S, Quinlivan R, Merve A, Scalco R, Hilton-Jones D, Houlden H, Aydin HI, Ceylaner S, Drewes S, Vockley J, Taylor RL, Folland C, Kelly A, Goullee H, Ylikallio E, Auranen M, Tyynismaa H, Udd B, Forrest ARR, Davis MR, Bratkovic D, Manton N, Robertson T, O'Gorman C, McCombe P, Laing NG, Phillips L, de Lonlay P, Ravenscroft G. Cabrera-Serrano M, et al. Among authors: quinlivan r. Brain. 2022 Nov 21;145(11):3985-3998. doi: 10.1093/brain/awab484. Brain. 2022. PMID: 34957489 Free article.
Long-term Natural History of Pediatric Dominant and Recessive RYR1-Related Myopathy.
Sarkozy A, Sa M, Ridout D, Fernandez-Garcia MA, Distefano MG, Main M, Sheehan J, Manzur AY, Munot P, Robb S, Wraige E, Quinlivan R, Scoto M, Baranello G, Gowda V, Mein R, Phadke R, Jungbluth H, Muntoni F. Sarkozy A, et al. Among authors: quinlivan r. Neurology. 2023 Oct 10;101(15):e1495-e1508. doi: 10.1212/WNL.0000000000207723. Epub 2023 Aug 29. Neurology. 2023. PMID: 37643885
Physical training for McArdle disease.
Quinlivan R, Vissing J, Hilton-Jones D, Buckley J. Quinlivan R, et al. Cochrane Database Syst Rev. 2011 Dec 7;(12):CD007931. doi: 10.1002/14651858.CD007931.pub2. Cochrane Database Syst Rev. 2011. PMID: 22161416 Review.
263rd ENMC International Workshop: Focus on female carriers of dystrophinopathy: refining recommendations for prevention, diagnosis, surveillance, and treatment. Hoofddorp, The Netherlands, 13-15 May 2022.
Sarkozy A, Quinlivan R, Bourke JP, Ferlini A; ENMC 263rd Workshop Study Group. Sarkozy A, et al. Among authors: quinlivan r. Neuromuscul Disord. 2023 Mar;33(3):274-284. doi: 10.1016/j.nmd.2023.01.003. Epub 2023 Jan 12. Neuromuscul Disord. 2023. PMID: 36804616 No abstract available.
Calcium antagonists for Duchenne muscular dystrophy.
Phillips MF, Quinlivan R. Phillips MF, et al. Among authors: quinlivan r. Cochrane Database Syst Rev. 2008 Oct 8;(4):CD004571. doi: 10.1002/14651858.CD004571.pub2. Cochrane Database Syst Rev. 2008. PMID: 18843663 Review.
Cardiac manifestations of McArdle disease.
Jones DM, Lopes L, Quinlivan R, Elliott PM, Khanji MY. Jones DM, et al. Among authors: quinlivan r. Eur Heart J. 2019 Jan 21;40(4):397-398. doi: 10.1093/eurheartj/ehy783. Eur Heart J. 2019. PMID: 30534954 No abstract available.
Genotype-related respiratory progression in Duchenne muscular dystrophy-A multicenter international study.
Trucco F, Ridout D, Domingos J, Maresh K, Chesshyre M, Munot P, Sarkozy A, Robb S, Quinlivan R, Riley M, Wallis C, Chan E, Abel F, De Lucia S, Hogrel JY, Niks EH, de Groot I, Servais L, Straub V, Ricotti V, Manzur A, Muntoni F; UK NorthStar Clinical Network and AFM Network. Trucco F, et al. Among authors: quinlivan r. Muscle Nerve. 2022 Jan;65(1):67-74. doi: 10.1002/mus.27427. Epub 2021 Oct 27. Muscle Nerve. 2022. PMID: 34606104
34 results