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

Year Number of Results
1947 1
1961 1
1968 1
1973 1
1975 1
1979 1
1992 1
1997 1
2001 3
2002 2
2003 1
2006 3
2007 4
2008 7
2009 8
2010 9
2011 6
2012 8
2013 8
2014 3
2015 7
2016 2
2017 11
2018 9
2019 5
2020 5
2021 1
2022 6
2023 4
2024 4
2025 0

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114 results

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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. 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.
Whole-genome sequencing of a sporadic primary immunodeficiency cohort.
Thaventhiran JED, Lango Allen H, Burren OS, Rae W, Greene D, Staples E, Zhang Z, Farmery JHR, Simeoni I, Rivers E, Maimaris J, Penkett CJ, Stephens J, Deevi SVV, Sanchis-Juan A, Gleadall NS, Thomas MJ, Sargur RB, Gordins P, Baxendale HE, Brown M, Tuijnenburg P, Worth A, Hanson S, Linger RJ, Buckland MS, Rayner-Matthews PJ, Gilmour KC, Samarghitean C, Seneviratne SL, Sansom DM, Lynch AG, Megy K, Ellinghaus E, Ellinghaus D, Jorgensen SF, Karlsen TH, Stirrups KE, Cutler AJ, Kumararatne DS, Chandra A, Edgar JDM, Herwadkar A, Cooper N, Grigoriadou S, Huissoon AP, Goddard S, Jolles S, Schuetz C, Boschann F; Primary Immunodeficiency Consortium for the NIHR Bioresource; Lyons PA, Hurles ME, Savic S, Burns SO, Kuijpers TW, Turro E, Ouwehand WH, Thrasher AJ, Smith KGC. Thaventhiran JED, et al. Nature. 2020 Jul;583(7814):90-95. doi: 10.1038/s41586-020-2265-1. Epub 2020 May 6. Nature. 2020. PMID: 32499645 Free PMC article.
Plasma Cell Mucositis.
Shanahan D, Shipley D, Staines K. Shanahan D, et al. Among authors: shipley d. Ear Nose Throat J. 2020 Jul;99(6):NP64-NP65. doi: 10.1177/0145561319849001. Epub 2019 May 9. Ear Nose Throat J. 2020. PMID: 31072192 Free article. No abstract available.
Safety net.
Shipley D. Shipley D. Ment Health Today. 2014 Jul-Aug:12-3. Ment Health Today. 2014. PMID: 25195232 No abstract available.
Absolute dosimetry for FLASH proton pencil beam scanning radiotherapy.
Lourenço A, Subiel A, Lee N, Flynn S, Cotterill J, Shipley D, Romano F, Speth J, Lee E, Zhang Y, Xiao Z, Mascia A, Amos RA, Palmans H, Thomas R. Lourenço A, et al. Among authors: shipley d. Sci Rep. 2023 Feb 4;13(1):2054. doi: 10.1038/s41598-023-28192-0. Sci Rep. 2023. PMID: 36739297 Free PMC article.
Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia.
Gorman KM, Meyer E, Grozeva D, Spinelli E, McTague A, Sanchis-Juan A, Carss KJ, Bryant E, Reich A, Schneider AL, Pressler RM, Simpson MA, Debelle GD, Wassmer E, Morton J, Sieciechowicz D, Jan-Kamsteeg E, Paciorkowski AR, King MD, Cross JH, Poduri A, Mefford HC, Scheffer IE, Haack TB, McCullagh G; Deciphering Developmental Disorders Study; UK10K Consortium; NIHR BioResource; Millichap JJ, Carvill GL, Clayton-Smith J, Maher ER, Raymond FL, Kurian MA. Gorman KM, et al. Am J Hum Genet. 2019 May 2;104(5):948-956. doi: 10.1016/j.ajhg.2019.03.005. Epub 2019 Apr 11. Am J Hum Genet. 2019. PMID: 30982612 Free PMC article.
Pregnant pause.
Shipley D. Shipley D. Ment Health Today. 2013 Nov-Dec:10-1. Ment Health Today. 2013. PMID: 24397012 No abstract available.
114 results