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Year Number of Results
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1959 1
1963 2
1964 1
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1979 1
1984 1
1986 1
1987 1
1996 1
1997 1
1998 1
1999 1
2000 1
2001 1
2002 37
2003 39
2004 47
2005 42
2006 49
2007 46
2008 43
2009 53
2010 44
2011 54
2012 34
2013 48
2014 58
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2016 61
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2024 49
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2026 8

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1,168 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, Izat… See abstract for full author list ➔ 100,000 Genomes Project Pilot Investigators, et al. Among authors: taylor j. 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.
Research criteria for the diagnosis of prodromal dementia with Lewy bodies.
McKeith IG, Ferman TJ, Thomas AJ, Blanc F, Boeve BF, Fujishiro H, Kantarci K, Muscio C, O'Brien JT, Postuma RB, Aarsland D, Ballard C, Bonanni L, Donaghy P, Emre M, Galvin JE, Galasko D, Goldman JG, Gomperts SN, Honig LS, Ikeda M, Leverenz JB, Lewis SJG, Marder KS, Masellis M, Salmon DP, Taylor JP, Tsuang DW, Walker Z, Tiraboschi P; prodromal DLB Diagnostic Study Group. McKeith IG, et al. Among authors: taylor jp. Neurology. 2020 Apr 28;94(17):743-755. doi: 10.1212/WNL.0000000000009323. Epub 2020 Apr 2. Neurology. 2020. PMID: 32241955 Free PMC article. Review.
Delineation of dominant and recessive forms of LZTR1-associated Noonan syndrome.
Pagnamenta AT, Kaisaki PJ, Bennett F, Burkitt-Wright E, Martin HC, Ferla MP, Taylor JM, Gompertz L, Lahiri N, Tatton-Brown K, Newbury-Ecob R, Henderson A, Joss S, Weber A, Carmichael J, Turnpenny PD, McKee S, Forzano F, Ashraf T, Bradbury K, Shears D, Kini U, de Burca A; DDD Study; Blair E, Taylor JC, Stewart H. Pagnamenta AT, et al. Among authors: taylor jm. Clin Genet. 2019 Jun;95(6):693-703. doi: 10.1111/cge.13533. Epub 2019 Apr 3. Clin Genet. 2019. PMID: 30859559 Free PMC article.
Reliability.
Taylor JM. Taylor JM. J Nurs Educ. 2021 Feb 1;60(2):65-66. doi: 10.3928/01484834-20210120-02. J Nurs Educ. 2021. PMID: 33528575
Fungal impacts on Earth's ecosystems.
Case NT, Gurr SJ, Fisher MC, Blehert DS, Boone C, Casadevall A, Chowdhary A, Cuomo CA, Currie CR, Denning DW, Ene IV, Fritz-Laylin LK, Gerstein AC, Gow NAR, Gusa A, Iliev ID, James TY, Jin H, Kahmann R, Klein BS, Kronstad JW, Ost KS, Peay KG, Shapiro RS, Sheppard DC, Shlezinger N, Stajich JE, Stukenbrock EH, Taylor JW, Wright GD, Cowen LE, Heitman J, Segre JA. Case NT, et al. Among authors: taylor jw. Nature. 2025 Feb;638(8049):49-57. doi: 10.1038/s41586-024-08419-4. Epub 2025 Feb 5. Nature. 2025. PMID: 39910383 Free PMC article. Review.
Missing Data.
Abaoud A, Taylor JM. Abaoud A, et al. Among authors: taylor jm. J Nurs Educ. 2022 Feb;61(2):65-66. doi: 10.3928/01484834-20220112-02. Epub 2022 Feb 1. J Nurs Educ. 2022. PMID: 35112942
Coefficient Omega.
Taylor JM. Taylor JM. J Nurs Educ. 2021 Aug;60(8):429-430. doi: 10.3928/01484834-20210722-02. Epub 2021 Aug 1. J Nurs Educ. 2021. PMID: 34346817
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: taylor jm. Genome Med. 2023 Nov 9;15(1):94. doi: 10.1186/s13073-023-01240-0. Genome Med. 2023. PMID: 37946251 Free PMC article.
Measures of resting state EEG rhythms for clinical trials in Alzheimer's disease: Recommendations of an expert panel.
Babiloni C, Arakaki X, Azami H, Bennys K, Blinowska K, Bonanni L, Bujan A, Carrillo MC, Cichocki A, de Frutos-Lucas J, Del Percio C, Dubois B, Edelmayer R, Egan G, Epelbaum S, Escudero J, Evans A, Farina F, Fargo K, Fernández A, Ferri R, Frisoni G, Hampel H, Harrington MG, Jelic V, Jeong J, Jiang Y, Kaminski M, Kavcic V, Kilborn K, Kumar S, Lam A, Lim L, Lizio R, Lopez D, Lopez S, Lucey B, Maestú F, McGeown WJ, McKeith I, Moretti DV, Nobili F, Noce G, Olichney J, Onofrj M, Osorio R, Parra-Rodriguez M, Rajji T, Ritter P, Soricelli A, Stocchi F, Tarnanas I, Taylor JP, Teipel S, Tucci F, Valdes-Sosa M, Valdes-Sosa P, Weiergräber M, Yener G, Guntekin B. Babiloni C, et al. Among authors: taylor jp. Alzheimers Dement. 2021 Sep;17(9):1528-1553. doi: 10.1002/alz.12311. Epub 2021 Apr 15. Alzheimers Dement. 2021. PMID: 33860614 Free PMC article. Review.
1,168 results