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Year Number of Results
1973 1
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1983 1
1984 1
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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
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2025 14

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317 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.
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.
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.
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 Free PMC article.
Iron-sensitive RNA regulation by poly C-binding proteins.
Goda GA, Forbes K, Sullivan ME, Eramo GA, Breen C, Porter DF, Khavari PA, Dominguez D, Aleman MM. Goda GA, et al. Among authors: breen c. Nucleic Acids Res. 2025 Sep 23;53(18):gkaf942. doi: 10.1093/nar/gkaf942. Nucleic Acids Res. 2025. PMID: 41036621 Free PMC article.
Neonatal macular hemorrhage.
Paris CL, Peyman GA, Breen C, Blinder KJ. Paris CL, et al. Among authors: breen c. Int Ophthalmol. 1991 May;15(3):153-5. doi: 10.1007/BF00153918. Int Ophthalmol. 1991. PMID: 2050469
317 results