Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

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

Year Number of Results
1988 1
1989 1
1995 1
1996 1
1997 1
1998 3
1999 4
2000 5
2001 2
2002 3
2003 2
2004 3
2005 1
2006 2
2007 2
2008 2
2009 3
2010 7
2011 2
2012 3
2013 2
2014 5
2015 5
2016 12
2017 11
2018 11
2019 5
2020 14
2021 14
2022 11
2023 10
2024 2

Text availability

Article attribute

Article type

Publication date

Search Results

135 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. 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.
Altered TMPRSS2 usage by SARS-CoV-2 Omicron impacts infectivity and fusogenicity.
Meng B, Abdullahi A, Ferreira IATM, Goonawardane N, Saito A, Kimura I, Yamasoba D, Gerber PP, Fatihi S, Rathore S, Zepeda SK, Papa G, Kemp SA, Ikeda T, Toyoda M, Tan TS, Kuramochi J, Mitsunaga S, Ueno T, Shirakawa K, Takaori-Kondo A, Brevini T, Mallery DL, Charles OJ; CITIID-NIHR BioResource COVID-19 Collaboration; Genotype to Phenotype Japan (G2P-Japan) Consortium; Ecuador-COVID19 Consortium; Bowen JE, Joshi A, Walls AC, Jackson L, Martin D, Smith KGC, Bradley J, Briggs JAG, Choi J, Madissoon E, Meyer KB, Mlcochova P, Ceron-Gutierrez L, Doffinger R, Teichmann SA, Fisher AJ, Pizzuto MS, de Marco A, Corti D, Hosmillo M, Lee JH, James LC, Thukral L, Veesler D, Sigal A, Sampaziotis F, Goodfellow IG, Matheson NJ, Sato K, Gupta RK. Meng B, et al. Among authors: doffinger r. Nature. 2022 Mar;603(7902):706-714. doi: 10.1038/s41586-022-04474-x. Epub 2022 Feb 1. Nature. 2022. PMID: 35104837 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.
A robust model for read count data in exome sequencing experiments and implications for copy number variant calling.
Plagnol V, Curtis J, Epstein M, Mok KY, Stebbings E, Grigoriadou S, Wood NW, Hambleton S, Burns SO, Thrasher AJ, Kumararatne D, Doffinger R, Nejentsev S. Plagnol V, et al. Among authors: doffinger r. Bioinformatics. 2012 Nov 1;28(21):2747-54. doi: 10.1093/bioinformatics/bts526. Epub 2012 Aug 31. Bioinformatics. 2012. PMID: 22942019 Free PMC article.
SARS-CoV-2 evolution during treatment of chronic infection.
Kemp SA, Collier DA, Datir RP, Ferreira IATM, Gayed S, Jahun A, Hosmillo M, Rees-Spear C, Mlcochova P, Lumb IU, Roberts DJ, Chandra A, Temperton N; CITIID-NIHR BioResource COVID-19 Collaboration; COVID-19 Genomics UK (COG-UK) Consortium; Sharrocks K, Blane E, Modis Y, Leigh KE, Briggs JAG, van Gils MJ, Smith KGC, Bradley JR, Smith C, Doffinger R, Ceron-Gutierrez L, Barcenas-Morales G, Pollock DD, Goldstein RA, Smielewska A, Skittrall JP, Gouliouris T, Goodfellow IG, Gkrania-Klotsas E, Illingworth CJR, McCoy LE, Gupta RK. Kemp SA, et al. Among authors: doffinger r. Nature. 2021 Apr;592(7853):277-282. doi: 10.1038/s41586-021-03291-y. Epub 2021 Feb 5. Nature. 2021. PMID: 33545711 Free PMC article.
Autoantibodies against type I IFNs in humans with alternative NF-κB pathway deficiency.
Le Voyer T, Parent AV, Liu X, Cederholm A, Gervais A, Rosain J, Nguyen T, Perez Lorenzo M, Rackaityte E, Rinchai D, Zhang P, Bizien L, Hancioglu G, Ghillani-Dalbin P, Charuel JL, Philippot Q, Gueye MS, Maglorius Renkilaraj MRL, Ogishi M, Soudée C, Migaud M, Rozenberg F, Momenilandi M, Riller Q, Imberti L, Delmonte OM, Müller G, Keller B, Orrego J, Franco Gallego WA, Rubin T, Emiroglu M, Parvaneh N, Eriksson D, Aranda-Guillen M, Berrios DI, Vong L, Katelaris CH, Mustillo P, Raedler J, Bohlen J, Bengi Celik J, Astudillo C, Winter S; NF-κB Consortium; COVID Human Genetic Effort; McLean C, Guffroy A, DeRisi JL, Yu D, Miller C, Feng Y, Guichard A, Béziat V, Bustamante J, Pan-Hammarström Q, Zhang Y, Rosen LB, Holland SM, Bosticardo M, Kenney H, Castagnoli R, Slade CA, Boztuğ K, Mahlaoui N, Latour S, Abraham RS, Lougaris V, Hauck F, Sediva A, Atschekzei F, Sogkas G, Poli MC, Slatter MA, Palterer B, Keller MD, Pinzon-Charry A, Sullivan A, Droney L, Suan D, Wong M, Kane A, Hu H, Ma C, Grombiříková H, Ciznar P, Dalal I, Aladjidi N, Hie M, Lazaro E, Franco J, Keles S, Malphettes M, Pasquet M, Maccari ME, Meinhardt A, Ikinciogullari A, Shahrooei M, Celmeli F, Frosk P, Goodnow CC, Gray PE, Bel… See abstract for full author list ➔ Le Voyer T, et al. Among authors: doffinger r. Nature. 2023 Nov;623(7988):803-813. doi: 10.1038/s41586-023-06717-x. Epub 2023 Nov 8. Nature. 2023. PMID: 37938781 Free PMC article.
Brain injury in COVID-19 is associated with dysregulated innate and adaptive immune responses.
Needham EJ, Ren AL, Digby RJ, Norton EJ, Ebrahimi S, Outtrim JG, Chatfield DA, Manktelow AE, Leibowitz MM, Newcombe VFJ, Doffinger R, Barcenas-Morales G, Fonseca C, Taussig MJ, Burnstein RM, Samanta RJ, Dunai C, Sithole N, Ashton NJ, Zetterberg H, Gisslén M, Edén A, Marklund E, Openshaw PJM, Dunning J, Griffiths MJ, Cavanagh J, Breen G, Irani SR, Elmer A, Kingston N, Summers C, Bradley JR, Taams LS, Michael BD, Bullmore ET, Smith KGC, Lyons PA, Coles AJ, Menon DK; Cambridge NeuroCOVID Group; CITIID-NIHR COVID-19 BioResource Collaboration; Cambridge NIHR Clinical Research Facility. Needham EJ, et al. Among authors: doffinger r. Brain. 2022 Nov 21;145(11):4097-4107. doi: 10.1093/brain/awac321. Brain. 2022. PMID: 36065116 Free PMC article.
135 results