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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1992 1
1993 1
1994 2
1995 3
1996 3
1997 2
1998 2
2000 2
2001 1
2002 1
2003 2
2004 5
2005 1
2006 1
2007 6
2008 5
2009 4
2010 8
2011 8
2012 8
2013 12
2014 13
2015 8
2016 10
2017 4
2018 8
2019 15
2020 11
2021 15
2022 7
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150 results
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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 E, Izatt L, Josifova D, Mohammed S, Robert L, Rose S, Ruddy D, Sarkany R, Say G, Shaw AC, Wolejko A, Habib B, Burns G, Hunter S, Grocock RJ, Humphray SJ, Robinson PN, Haendel M, Simpson MA, Banka S, Clayton-Smith J, Douzgou S, Hall G, Thomas HB, O'Keefe RT, Michaelides M, Moore AT, Malka S, Pontikos N, Browning AC, Straub V, Gorman GS, Horvath R, Quinton R, Schaefer AM, Yu-Wai-Man P, Turnbull DM, McFarland R, Taylor RW, O'Connor E, Yip J, Newland K, Morris HR, Polke J, Wood NW, Campbell C, Camps C, Gibson K, Koelling N, Lester T, Németh AH, Palles C, Patel S, Roy NBA, Sen A, Taylor J, Cacheiro P, Jacobsen JO, Seaby EG, Davison V, Chitty L, Douglas A, Naresh K, McMullan D, Ellard S, Temple IK, Mumford AD, Wilson G, Beales P, Bitner-Glindzicz M, Black G, Bradley JR, Brennan P, Burn J, Chinnery PF, Elliott P, Flinter F, Houlden H, Irving M, Newman W, Rahman S, Sayer JA, Taylor JC, Webster AR, Wilkie AOM, Ouwehand WH, Raymond FL, Chisholm J, Hill S, Bentley D, Scott RH, Fowler T, Rendon A, Caulfield M. 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
Making sense of missense variants in TTN-related congenital myopathies.
Rees M, Nikoopour R, Fukuzawa A, Kho AL, Fernandez-Garcia MA, Wraige E, Bodi I, Deshpande C, Özdemir Ö, Daimagüler HS, Pfuhl M, Holt M, Brandmeier B, Grover S, Fluss J, Longman C, Farrugia ME, Matthews E, Hanna M, Muntoni F, Sarkozy A, Phadke R, Quinlivan R, Oates EC, Schröder R, Thiel C, Reimann J, Voermans N, Erasmus C, Kamsteeg EJ, Konersman C, Grosmann C, McKee S, Tirupathi S, Moore SA, Wilichowski E, Hobbiebrunken E, Dekomien G, Richard I, Van den Bergh P, Domínguez-González C, Cirak S, Ferreiro A, Jungbluth H, Gautel M. Rees M, et al. Among authors: quinlivan r. Acta Neuropathol. 2021 Mar;141(3):431-453. doi: 10.1007/s00401-020-02257-0. Epub 2021 Jan 15. Acta Neuropathol. 2021. PMID: 33449170 Free PMC article.
A form of muscular dystrophy associated with pathogenic variants in JAG2.
Coppens S, Barnard AM, Puusepp S, Pajusalu S, Õunap K, Vargas-Franco D, Bruels CC, Donkervoort S, Pais L, Chao KR, Goodrich JK, England EM, Weisburd B, Ganesh VS, Gudmundsson S, O'Donnell-Luria A, Nigul M, Ilves P, Mohassel P, Siddique T, Milone M, Nicolau S, Maroofian R, Houlden H, Hanna MG, Quinlivan R, Beiraghi Toosi M, Ghayoor Karimiani E, Costagliola S, Deconinck N, Kadhim H, Macke E, Lanpher BC, Klee EW, Łusakowska A, Kostera-Pruszczyk A, Hahn A, Schrank B, Nishino I, Ogasawara M, El Sherif R, Stojkovic T, Nelson I, Bonne G, Cohen E, Boland-Augé A, Deleuze JF, Meng Y, Töpf A, Vilain C, Pacak CA, Rivera-Zengotita ML, Bönnemann CG, Straub V, Handford PA, Draper I, Walter GA, Kang PB. Coppens S, et al. Among authors: quinlivan r. Am J Hum Genet. 2021 May 6;108(5):840-856. doi: 10.1016/j.ajhg.2021.03.020. Epub 2021 Apr 15. Am J Hum Genet. 2021. PMID: 33861953 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.
Rhabdomyolysis: a genetic perspective.
Scalco RS, Gardiner AR, Pitceathly RD, Zanoteli E, Becker J, Holton JL, Houlden H, Jungbluth H, Quinlivan R. Scalco RS, et al. Among authors: quinlivan r. Orphanet J Rare Dis. 2015 May 2;10:51. doi: 10.1186/s13023-015-0264-3. Orphanet J Rare Dis. 2015. PMID: 25929793 Free PMC article. Review.
Scoliosis in Duchenne muscular dystrophy (DMD).
Hsu JD, Quinlivan R. Hsu JD, et al. Among authors: quinlivan r. Neuromuscul Disord. 2013 Aug;23(8):611-7. doi: 10.1016/j.nmd.2013.05.003. Epub 2013 Jun 6. Neuromuscul Disord. 2013. PMID: 23746543 Review.
Energy metabolism during exercise in patients with β-enolase deficiency (GSDXIII).
Buch AE, Musumeci O, Wigley R, Stemmerik MPG, Eisum AV, Madsen KL, Preisler N, Hilton-Jones D, Quinlivan R, Toscano A, Vissing J. Buch AE, et al. Among authors: quinlivan r. JIMD Rep. 2021 Jun 14;61(1):60-66. doi: 10.1002/jmd2.12232. eCollection 2021 Sep. JIMD Rep. 2021. PMID: 34485019 Free PMC article.
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, Ibrahim Aydin H, Ceylaner 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, McCombe P, Laing NG, Phillips L, de Lonlay P, Ravenscroft G. Cabrera-Serrano M, et al. Among authors: quinlivan r. Brain. 2021 Dec 27:awab484. doi: 10.1093/brain/awab484. Online ahead of print. Brain. 2021. PMID: 34957489
Skeletal muscle disorders of glycogenolysis and glycolysis.
Godfrey R, Quinlivan R. Godfrey R, et al. Among authors: quinlivan r. Nat Rev Neurol. 2016 Jul;12(7):393-402. doi: 10.1038/nrneurol.2016.75. Epub 2016 May 27. Nat Rev Neurol. 2016. PMID: 27231184 Review.
150 results