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

Year Number of Results
1973 1
1974 1
1981 1
1983 1
1984 1
1986 2
1988 1
1989 4
1990 2
1991 2
1992 1
1996 4
1997 1
1998 5
1999 5
2000 3
2001 7
2002 5
2003 8
2004 7
2005 7
2006 3
2008 4
2009 6
2010 4
2011 10
2012 14
2013 21
2014 17
2015 11
2016 16
2017 19
2018 13
2019 15
2020 20
2021 33
2022 29
2023 14
2024 7

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295 results

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Page 1
Evidence for 28 genetic disorders discovered by combining healthcare and research data.
Kaplanis J, Samocha KE, Wiel L, Zhang Z, Arvai KJ, Eberhardt RY, Gallone G, Lelieveld SH, Martin HC, McRae JF, Short PJ, Torene RI, de Boer E, Danecek P, Gardner EJ, Huang N, Lord J, Martincorena I, Pfundt R, Reijnders MRF, Yeung A, Yntema HG; Deciphering Developmental Disorders Study; Vissers LELM, Juusola J, Wright CF, Brunner HG, Firth HV, FitzPatrick DR, Barrett JC, Hurles ME, Gilissen C, Retterer K. Kaplanis J, et al. Nature. 2020 Oct;586(7831):757-762. doi: 10.1038/s41586-020-2832-5. Epub 2020 Oct 14. Nature. 2020. PMID: 33057194 Free PMC article.
Obesity in Adults: A 2022 Adapted Clinical Practice Guideline for Ireland.
Breen C, O'Connell J, Geoghegan J, O'Shea D, Birney S, Tully L, Gaynor K, O'Kelly M, O'Malley G, O'Donovan C, Lyons O, Flynn M, Allen S, Arthurs N, Browne S, Byrne M, Callaghan S, Collins C, Courtney A, Crotty M, Donohue C, Donovan C, Dunlevy C, Duggan D, Fearon N, Finucane F, Fitzgerald I, Foy S, Garvey J, Gibson I, Glynn L, Gregg E, Griffin A, Harrington JM, Heary C, Heneghan H, Hogan A, Hynes M, Kearney C, Kelly D, Neff K, le Roux CW, Manning S, McAuliffe F, Moore S, Moran N, Murphy M, Murrin C, O'Brien SM, O'Donnell C, O'Dwyer S, O'Grada C, O'Malley E, O'Reilly O, O'Reilly S, Porter O, Roche HM, Rhynehart A, Ryan L, Seery S, Soare C, Shaamile F, Walsh A, Woods C, Woods C, Yoder R. Breen C, et al. Obes Facts. 2022;15(6):736-752. doi: 10.1159/000527131. Epub 2022 Oct 24. Obes Facts. 2022. PMID: 36279848 Free PMC article. Review.
Genomic Diagnosis of Rare Pediatric Disease in the United Kingdom and Ireland.
Wright CF, Campbell P, Eberhardt RY, Aitken S, Perrett D, Brent S, Danecek P, Gardner EJ, Chundru VK, Lindsay SJ, Andrews K, Hampstead J, Kaplanis J, Samocha KE, Middleton A, Foreman J, Hobson RJ, Parker MJ, Martin HC, FitzPatrick DR, Hurles ME, Firth HV; DDD Study. Wright CF, et al. N Engl J Med. 2023 Apr 27;388(17):1559-1571. doi: 10.1056/NEJMoa2209046. Epub 2023 Apr 12. N Engl J Med. 2023. PMID: 37043637 Free PMC article.
The contribution of X-linked coding variation to severe developmental disorders.
Martin HC, Gardner EJ, Samocha KE, Kaplanis J, Akawi N, Sifrim A, Eberhardt RY, Tavares ALT, Neville MDC, Niemi MEK, Gallone G, McRae J; Deciphering Developmental Disorders Study; Wright CF, FitzPatrick DR, Firth HV, Hurles ME. Martin HC, et al. Nat Commun. 2021 Jan 27;12(1):627. doi: 10.1038/s41467-020-20852-3. Nat Commun. 2021. PMID: 33504798 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. 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.
Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections.
Jeffries L, Mis EK, McWalter K, Donkervoort S, Brodsky NN, Carpier JM, Ji W, Ionita C, Roy B, Morrow JS, Darbinyan A, Iyer K, Aul RB, Banka S, Chao KR, Cobbold L, Cohen S, Custodio HM, Drummond-Borg M, Elmslie F, Finanger E, Hainline BE, Helbig I, Hewson S, Hu Y, Jackson A, Josifova D, Konstantino M, Leach ME, Mak B, McCormick D, McGee E, Nelson S, Nguyen J, Nugent K, Ortega L, Goodkin HP, Roeder E, Roy S, Sapp K, Saade D, Sisodiya SM, Stals K, Towner S, Wilson W; Deciphering Developmental Disorders; Genomics England Research Consortium; Undiagnosed Disease Network; Khokha MK, Bönnemann CG, Lucas CL, Lakhani SA. Jeffries L, et al. Genet Med. 2024 Feb;26(2):101023. doi: 10.1016/j.gim.2023.101023. Epub 2023 Nov 7. Genet Med. 2024. PMID: 37947183
SARS-CoV-2 Omicron is an immune escape variant with an altered cell entry pathway.
Willett BJ, Grove J, MacLean OA, Wilkie C, De Lorenzo G, Furnon W, Cantoni D, Scott S, Logan N, Ashraf S, Manali M, Szemiel A, Cowton V, Vink E, Harvey WT, Davis C, Asamaphan P, Smollett K, Tong L, Orton R, Hughes J, Holland P, Silva V, Pascall DJ, Puxty K, da Silva Filipe A, Yebra G, Shaaban S, Holden MTG, Pinto RM, Gunson R, Templeton K, Murcia PR, Patel AH, Klenerman P, Dunachie S; PITCH Consortium; COVID-19 Genomics UK (COG-UK) Consortium; Haughney J, Robertson DL, Palmarini M, Ray S, Thomson EC. Willett BJ, et al. Nat Microbiol. 2022 Aug;7(8):1161-1179. doi: 10.1038/s41564-022-01143-7. Epub 2022 Jul 7. Nat Microbiol. 2022. PMID: 35798890 Free PMC article.
295 results