Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

My NCBI Filters
Results by year

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

Year Number of Results
1954 1
1960 2
1965 3
1967 2
1968 2
1971 3
1974 1
1976 3
1979 1
1980 2
1981 2
1985 1
1986 5
1987 4
1988 5
1989 4
1990 7
1991 2
1992 5
1993 3
1994 3
1995 7
1996 1
1997 2
1998 4
1999 5
2000 3
2001 2
2002 4
2003 4
2004 2
2005 2
2006 6
2007 8
2008 5
2009 5
2010 6
2011 2
2012 3
2013 5
2014 6
2015 8
2016 6
2017 8
2018 10
2019 8
2020 7
2021 7
Text availability
Article attribute
Article type
Publication date

Search Results

183 results
Results by year
Filters applied: . Clear all
Page 1
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. Among authors: scott rh. 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.
Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study.
Lord J, McMullan DJ, Eberhardt RY, Rinck G, Hamilton SJ, Quinlan-Jones E, Prigmore E, Keelagher R, Best SK, Carey GK, Mellis R, Robart S, Berry IR, Chandler KE, Cilliers D, Cresswell L, Edwards SL, Gardiner C, Henderson A, Holden ST, Homfray T, Lester T, Lewis RA, Newbury-Ecob R, Prescott K, Quarrell OW, Ramsden SC, Roberts E, Tapon D, Tooley MJ, Vasudevan PC, Weber AP, Wellesley DG, Westwood P, White H, Parker M, Williams D, Jenkins L, Scott RH, Kilby MD, Chitty LS, Hurles ME, Maher ER; Prenatal Assessment of Genomes and Exomes Consortium. Lord J, et al. Among authors: scott rh. Lancet. 2019 Feb 23;393(10173):747-757. doi: 10.1016/S0140-6736(18)31940-8. Epub 2019 Jan 31. Lancet. 2019. PMID: 30712880 Free PMC article.
The 100 000 Genomes Project: bringing whole genome sequencing to the NHS.
Turnbull C, Scott RH, Thomas E, Jones L, Murugaesu N, Pretty FB, Halai D, Baple E, Craig C, Hamblin A, Henderson S, Patch C, O'Neill A, Devereau A, Smith K, Martin AR, Sosinsky A, McDonagh EM, Sultana R, Mueller M, Smedley D, Toms A, Dinh L, Fowler T, Bale M, Hubbard T, Rendon A, Hill S, Caulfield MJ; 100 000 Genomes Project. Turnbull C, et al. Among authors: scott rh. BMJ. 2018 Apr 24;361:k1687. doi: 10.1136/bmj.k1687. BMJ. 2018. PMID: 29691228 No abstract available.
Clinical and molecular characterization of KCNT1-related severe early-onset epilepsy.
McTague A, Nair U, Malhotra S, Meyer E, Trump N, Gazina EV, Papandreou A, Ngoh A, Ackermann S, Ambegaonkar G, Appleton R, Desurkar A, Eltze C, Kneen R, Kumar AV, Lascelles K, Montgomery T, Ramesh V, Samanta R, Scott RH, Tan J, Whitehouse W, Poduri A, Scheffer IE, Chong WKK, Cross JH, Topf M, Petrou S, Kurian MA. McTague A, et al. Among authors: scott rh. Neurology. 2018 Jan 2;90(1):e55-e66. doi: 10.1212/WNL.0000000000004762. Epub 2017 Dec 1. Neurology. 2018. PMID: 29196579 Free PMC article.
Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis.
Trump N, McTague A, Brittain H, Papandreou A, Meyer E, Ngoh A, Palmer R, Morrogh D, Boustred C, Hurst JA, Jenkins L, Kurian MA, Scott RH. Trump N, et al. Among authors: scott rh. J Med Genet. 2016 May;53(5):310-7. doi: 10.1136/jmedgenet-2015-103263. Epub 2016 Mar 18. J Med Genet. 2016. PMID: 26993267 Free PMC article.
An online compendium of treatable genetic disorders.
Bick D, Bick SL, Dimmock DP, Fowler TA, Caulfield MJ, Scott RH. Bick D, et al. Among authors: scott rh. Am J Med Genet C Semin Med Genet. 2021 Mar;187(1):48-54. doi: 10.1002/ajmg.c.31874. Epub 2020 Dec 22. Am J Med Genet C Semin Med Genet. 2021. PMID: 33350578 Free PMC article.
The Human Phenotype Ontology in 2017.
Köhler S, Vasilevsky NA, Engelstad M, Foster E, McMurry J, Aymé S, Baynam G, Bello SM, Boerkoel CF, Boycott KM, Brudno M, Buske OJ, Chinnery PF, Cipriani V, Connell LE, Dawkins HJ, DeMare LE, Devereau AD, de Vries BB, Firth HV, Freson K, Greene D, Hamosh A, Helbig I, Hum C, Jähn JA, James R, Krause R, F Laulederkind SJ, Lochmüller H, Lyon GJ, Ogishima S, Olry A, Ouwehand WH, Pontikos N, Rath A, Schaefer F, Scott RH, Segal M, Sergouniotis PI, Sever R, Smith CL, Straub V, Thompson R, Turner C, Turro E, Veltman MW, Vulliamy T, Yu J, von Ziegenweidt J, Zankl A, Züchner S, Zemojtel T, Jacobsen JO, Groza T, Smedley D, Mungall CJ, Haendel M, Robinson PN. Köhler S, et al. Among authors: scott rh. Nucleic Acids Res. 2017 Jan 4;45(D1):D865-D876. doi: 10.1093/nar/gkw1039. Epub 2016 Nov 28. Nucleic Acids Res. 2017. PMID: 27899602 Free PMC article. Review.
Genomic medicine: time for health-care transformation.
Scott RH, Fowler TA, Caulfield M. Scott RH, et al. Lancet. 2019 Aug 10;394(10197):454-456. doi: 10.1016/S0140-6736(19)31796-9. Epub 2019 Aug 5. Lancet. 2019. PMID: 31395438 No abstract available.
Supersonic plasma turbulence in the laboratory.
White TG, Oliver MT, Mabey P, Kühn-Kauffeldt M, Bott AFA, Döhl LNK, Bell AR, Bingham R, Clarke R, Foster J, Giacinti G, Graham P, Heathcote R, Koenig M, Kuramitsu Y, Lamb DQ, Meinecke J, Michel T, Miniati F, Notley M, Reville B, Ryu D, Sarkar S, Sakawa Y, Selwood MP, Squire J, Scott RHH, Tzeferacos P, Woolsey N, Schekochihin AA, Gregori G. White TG, et al. Among authors: scott rhh. Nat Commun. 2019 Apr 15;10(1):1758. doi: 10.1038/s41467-019-09498-y. Nat Commun. 2019. PMID: 30988285 Free PMC article.
183 results
You have reached the last page of results. A maximum of 10,000 results are available.
Jump to page