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

Year Number of Results
1986 1
1991 1
1992 4
1993 2
1995 1
1996 2
1998 1
1999 2
2000 2
2001 1
2002 1
2003 1
2005 2
2006 2
2007 2
2009 1
2010 2
2011 6
2012 2
2013 3
2015 3
2018 1
2019 1
2022 2
2023 2
2024 0

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46 results

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Page 1
A genetic study of Wilson's disease in the United Kingdom.
Coffey AJ, Durkie M, Hague S, McLay K, Emmerson J, Lo C, Klaffke S, Joyce CJ, Dhawan A, Hadzic N, Mieli-Vergani G, Kirk R, Elizabeth Allen K, Nicholl D, Wong S, Griffiths W, Smithson S, Giffin N, Taha A, Connolly S, Gillett GT, Tanner S, Bonham J, Sharrack B, Palotie A, Rattray M, Dalton A, Bandmann O. Coffey AJ, et al. Brain. 2013 May;136(Pt 5):1476-87. doi: 10.1093/brain/awt035. Epub 2013 Mar 21. Brain. 2013. PMID: 23518715 Free PMC article.
A detailed clinical and molecular survey of subjects with nonsyndromic USH2A retinopathy reveals an allelic hierarchy of disease-causing variants.
Lenassi E, Vincent A, Li Z, Saihan Z, Coffey AJ, Steele-Stallard HB, Moore AT, Steel KP, Luxon LM, Héon E, Bitner-Glindzicz M, Webster AR. Lenassi E, et al. Among authors: coffey aj. Eur J Hum Genet. 2015 Oct;23(10):1318-27. doi: 10.1038/ejhg.2014.283. Epub 2015 Feb 4. Eur J Hum Genet. 2015. PMID: 25649381 Free PMC article.
Expert Panel Curation of 113 Primary Mitochondrial Disease Genes for the Leigh Syndrome Spectrum.
McCormick EM, Keller K, Taylor JP, Coffey AJ, Shen L, Krotoski D, Harding B; NICHD ClinGen U24 Mitochondrial Disease Gene Curation Expert Panel; Gai X, Falk MJ, Zolkipli-Cunningham Z, Rahman S. McCormick EM, et al. Among authors: coffey aj. Ann Neurol. 2023 Oct;94(4):696-712. doi: 10.1002/ana.26716. Epub 2023 Aug 12. Ann Neurol. 2023. PMID: 37255483 Free article.
Target-enrichment strategies for next-generation sequencing.
Mamanova L, Coffey AJ, Scott CE, Kozarewa I, Turner EH, Kumar A, Howard E, Shendure J, Turner DJ. Mamanova L, et al. Among authors: coffey aj. Nat Methods. 2010 Feb;7(2):111-8. doi: 10.1038/nmeth.1419. Nat Methods. 2010. PMID: 20111037 Review.
The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources.
DiStefano MT, Goehringer S, Babb L, Alkuraya FS, Amberger J, Amin M, Austin-Tse C, Balzotti M, Berg JS, Birney E, Bocchini C, Bruford EA, Coffey AJ, Collins H, Cunningham F, Daugherty LC, Einhorn Y, Firth HV, Fitzpatrick DR, Foulger RE, Goldstein J, Hamosh A, Hurles MR, Leigh SE, Leong IUS, Maddirevula S, Martin CL, McDonagh EM, Olry A, Puzriakova A, Radtke K, Ramos EM, Rath A, Riggs ER, Roberts AM, Rodwell C, Snow C, Stark Z, Tahiliani J, Tweedie S, Ware JS, Weller P, Williams E, Wright CF, Yates TM, Rehm HL. DiStefano MT, et al. Among authors: coffey aj. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4. Genet Med. 2022. PMID: 35507016 Free PMC article.
DNA rescue by the vectorette method.
McAleer MA, Coffey AJ, Dunham I. McAleer MA, et al. Among authors: coffey aj. Methods Mol Biol. 2003;226:393-400. doi: 10.1385/1-59259-384-4:393. Methods Mol Biol. 2003. PMID: 12958526 No abstract available.
Reactive gene curation to support interpretation and reporting of a clinical genome test for rare disease: Experience from over 1,000 cases.
Clause AR, Taylor JP, Rajkumar R, Bluske K, Bennett M, Amendola LM; ICSL Interpretation and Reporting Team; Bentley DR, Taft RJ, Perry DL, Coffey AJ. Clause AR, et al. Among authors: coffey aj. Cell Genom. 2023 Jan 31;3(2):100258. doi: 10.1016/j.xgen.2023.100258. eCollection 2023 Feb 8. Cell Genom. 2023. PMID: 36819666 Free PMC article.
Copy-number variants in clinical genome sequencing: deployment and interpretation for rare and undiagnosed disease.
Gross AM, Ajay SS, Rajan V, Brown C, Bluske K, Burns NJ, Chawla A, Coffey AJ, Malhotra A, Scocchia A, Thorpe E, Dzidic N, Hovanes K, Sahoo T, Dolzhenko E, Lajoie B, Khouzam A, Chowdhury S, Belmont J, Roller E, Ivakhno S, Tanner S, McEachern J, Hambuch T, Eberle M, Hagelstrom RT, Bentley DR, Perry DL, Taft RJ. Gross AM, et al. Among authors: coffey aj. Genet Med. 2019 May;21(5):1121-1130. doi: 10.1038/s41436-018-0295-y. Epub 2018 Oct 8. Genet Med. 2019. PMID: 30293986 Free PMC article.
46 results