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

Year Number of Results
1988 1
1989 2
1990 1
1992 2
1995 2
1996 2
1997 2
1999 1
2000 1
2001 3
2002 2
2004 1
2005 2
2006 7
2007 6
2008 8
2009 5
2010 9
2011 15
2012 11
2013 11
2014 8
2015 7
2016 12
2017 7
2018 6
2019 9
2020 9
2021 1
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Search Results

138 results
Results by year
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Page 1
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: ramsden sc. 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.
Clinical and genetic variability in children with partial albinism.
Campbell P, Ellingford JM, Parry NRA, Fletcher T, Ramsden SC, Gale T, Hall G, Smith K, Kasperaviciute D, Thomas E, Lloyd IC, Douzgou S, Clayton-Smith J, Biswas S, Ashworth JL, Black GCM, Sergouniotis PI. Campbell P, et al. Among authors: ramsden sc. Sci Rep. 2019 Nov 12;9(1):16576. doi: 10.1038/s41598-019-51768-8. Sci Rep. 2019. PMID: 31719542 Free PMC article.
Molecular findings from 537 individuals with inherited retinal disease.
Ellingford JM, Barton S, Bhaskar S, O'Sullivan J, Williams SG, Lamb JA, Panda B, Sergouniotis PI, Gillespie RL, Daiger SP, Hall G, Gale T, Lloyd IC, Bishop PN, Ramsden SC, Black GCM. Ellingford JM, et al. Among authors: ramsden sc. J Med Genet. 2016 Nov;53(11):761-767. doi: 10.1136/jmedgenet-2016-103837. Epub 2016 May 11. J Med Genet. 2016. PMID: 27208204 Free PMC article.
Validation of copy number variation analysis for next-generation sequencing diagnostics.
Ellingford JM, Campbell C, Barton S, Bhaskar S, Gupta S, Taylor RL, Sergouniotis PI, Horn B, Lamb JA, Michaelides M, Webster AR, Newman WG, Panda B, Ramsden SC, Black GC. Ellingford JM, et al. Among authors: ramsden sc. Eur J Hum Genet. 2017 Jun;25(6):719-724. doi: 10.1038/ejhg.2017.42. Epub 2017 Apr 5. Eur J Hum Genet. 2017. PMID: 28378820 Free PMC article.
Diagnosing childhood-onset inborn errors of metabolism by next-generation sequencing.
Ghosh A, Schlecht H, Heptinstall LE, Bassett JK, Cartwright E, Bhaskar SS, Urquhart J, Broomfield A, Morris AA, Jameson E, Schwahn BC, Walter JH, Douzgou S, Murphy H, Hendriksz C, Sharma R, Wilcox G, Crushell E, Monavari AA, Martin R, Doolan A, Senniappan S, Ramsden SC, Jones SA, Banka S. Ghosh A, et al. Among authors: ramsden sc. Arch Dis Child. 2017 Nov;102(11):1019-1029. doi: 10.1136/archdischild-2017-312738. Epub 2017 May 3. Arch Dis Child. 2017. PMID: 28468868
Further delineation of the KAT6B molecular and phenotypic spectrum.
Gannon T, Perveen R, Schlecht H, Ramsden S, Anderson B, Kerr B, Day R, Banka S, Suri M, Berland S, Gabbett M, Ma A, Lyonnet S, Cormier-Daire V, Yilmaz R, Borck G, Wieczorek D, Anderlid BM, Smithson S, Vogt J, Moore-Barton H, Simsek-Kiper PO, Maystadt I, Destrée A, Bucher J, Angle B, Mohammed S, Wakeling E, Price S, Singer A, Sznajer Y, Toutain A, Haye D, Newbury-Ecob R, Fradin M, McGaughran J, Tuysuz B, Tein M, Bouman K, Dabir T, Van den Ende J, Luk HM, Pilz DT, Eason J, Davies S, Reardon W, Garavelli L, Zuffardi O, Devriendt K, Armstrong R, Johnson D, Doco-Fenzy M, Bijlsma E, Unger S, Veenstra-Knol HE, Kohlhase J, Lo IF; DDD study, Smith J, Clayton-Smith J. Gannon T, et al. Among authors: ramsden s. Eur J Hum Genet. 2015 Sep;23(9):1165-70. doi: 10.1038/ejhg.2014.248. Epub 2014 Nov 26. Eur J Hum Genet. 2015. PMID: 25424711 Free PMC article.
Panel-Based Clinical Genetic Testing in 85 Children with Inherited Retinal Disease.
Taylor RL, Parry NRA, Barton SJ, Campbell C, Delaney CM, Ellingford JM, Hall G, Hardcastle C, Morarji J, Nichol EJ, Williams LC, Douzgou S, Clayton-Smith J, Ramsden SC, Sharma V, Biswas S, Lloyd IC, Ashworth JL, Black GC, Sergouniotis PI. Taylor RL, et al. Among authors: ramsden sc. Ophthalmology. 2017 Jul;124(7):985-991. doi: 10.1016/j.ophtha.2017.02.005. Epub 2017 Mar 22. Ophthalmology. 2017. PMID: 28341476
Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease.
Ellingford JM, Barton S, Bhaskar S, Williams SG, Sergouniotis PI, O'Sullivan J, Lamb JA, Perveen R, Hall G, Newman WG, Bishop PN, Roberts SA, Leach R, Tearle R, Bayliss S, Ramsden SC, Nemeth AH, Black GC. Ellingford JM, et al. Among authors: ramsden sc. Ophthalmology. 2016 May;123(5):1143-50. doi: 10.1016/j.ophtha.2016.01.009. Epub 2016 Feb 9. Ophthalmology. 2016. PMID: 26872967 Free PMC article.
Fisheries rely on threatened salt marshes.
Baker R, Taylor MD, Able KW, Beck MW, Cebrian J, Colombano DD, Connolly RM, Currin C, Deegan LA, Feller IC, Gilby BL, Kimball ME, Minello TJ, Rozas LP, Simenstad C, Turner RE, Waltham NJ, Weinstein MP, Ziegler SL, Zu Ermgassen PSE, Alcott C, Alford SB, Barbeau MA, Crosby SC, Dodds K, Frank A, Goeke J, Goodridge Gaines LA, Hardcastle FE, Henderson CJ, James WR, Kenworthy MD, Lesser J, Mallick D, Martin CW, McDonald AE, McLuckie C, Morrison BH, Nelson JA, Norris GS, Ollerhead J, Pahl JW, Ramsden S, Rehage JS, Reinhardt JF, Rezek RJ, Risse LM, Smith JAM, Sparks EL, Staver LW. Baker R, et al. Among authors: ramsden s. Science. 2020 Nov 6;370(6517):670-671. doi: 10.1126/science.abe9332. Science. 2020. PMID: 33154131 No abstract available.
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