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Results by year

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

Year Number of Results
1912 1
1913 1
1917 2
1921 1
1922 2
1923 2
1924 2
1925 3
1928 2
1930 1
1931 1
1933 2
1934 1
1938 1
1941 1
1942 1
1944 2
1945 1
1946 4
1947 2
1948 1
1949 1
1952 1
1958 1
1960 1
1961 1
1962 2
1963 1
1964 1
1967 1
1968 1
1969 1
1972 1
1973 2
1974 2
1976 2
1977 1
1978 2
1979 1
1980 5
1981 6
1982 1
1983 3
1984 1
1985 4
1986 4
1987 5
1988 10
1989 14
1990 18
1991 13
1992 10
1993 2
1994 3
1995 5
1996 1
1997 1
1998 4
2000 2
2001 1
2002 3
2003 1
2004 5
2005 3
2006 1
2007 6
2008 6
2009 1
2010 6
2011 7
2012 5
2013 6
2014 5
2015 3
2016 4
2017 9
2018 6
2019 7
2020 15
2021 14
2022 16
2023 14
2024 5

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Article type

Publication date

Search Results

297 results

Results by year

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Page 1
Leigh syndrome: One disorder, more than 75 monogenic causes.
Lake NJ, Compton AG, Rahman S, Thorburn DR. Lake NJ, et al. Among authors: compton ag. Ann Neurol. 2016 Feb;79(2):190-203. doi: 10.1002/ana.24551. Epub 2015 Dec 15. Ann Neurol. 2016. PMID: 26506407 Free article. Review.
Integrated multi-omics for rapid rare disease diagnosis on a national scale.
Lunke S, Bouffler SE, Patel CV, Sandaradura SA, Wilson M, Pinner J, Hunter MF, Barnett CP, Wallis M, Kamien B, Tan TY, Freckmann ML, Chong B, Phelan D, Francis D, Kassahn KS, Ha T, Gao S, Arts P, Jackson MR, Scott HS, Eggers S, Rowley S, Boggs K, Rakonjac A, Brett GR, de Silva MG, Springer A, Ward M, Stallard K, Simons C, Conway T, Halman A, Van Bergen NJ, Sikora T, Semcesen LN, Stroud DA, Compton AG, Thorburn DR, Bell KM, Sadedin S, North KN, Christodoulou J, Stark Z. Lunke S, et al. Among authors: compton ag. Nat Med. 2023 Jul;29(7):1681-1691. doi: 10.1038/s41591-023-02401-9. Epub 2023 Jun 8. Nat Med. 2023. PMID: 37291213 Free PMC article.
Restriction of Influenza A Virus by SERINC5.
Lai KK, Munro JB, Shi G, Majdoul S, Compton AA, Rein A. Lai KK, et al. Among authors: compton aa. mBio. 2022 Dec 20;13(6):e0292322. doi: 10.1128/mbio.02923-22. Epub 2022 Nov 21. mBio. 2022. PMID: 36409124 Free PMC article.
Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants.
Bournazos AM, Riley LG, Bommireddipalli S, Ades L, Akesson LS, Al-Shinnag M, Alexander SI, Archibald AD, Balasubramaniam S, Berman Y, Beshay V, Boggs K, Bojadzieva J, Brown NJ, Bryen SJ, Buckley MF, Chong B, Davis MR, Dawes R, Delatycki M, Donaldson L, Downie L, Edwards C, Edwards M, Engel A, Ewans LJ, Faiz F, Fennell A, Field M, Freckmann ML, Gallacher L, Gear R, Goel H, Goh S, Goodwin L, Hanna B, Harraway J, Higgins M, Ho G, Hopper BK, Horton AE, Hunter MF, Huq AJ, Josephi-Taylor S, Joshi H, Kirk E, Krzesinski E, Kumar KR, Lemckert F, Leventer RJ, Lindsey-Temple SE, Lunke S, Ma A, Macaskill S, Mallawaarachchi A, Marty M, Marum JE, McCarthy HJ, Menezes MP, McLean A, Milnes D, Mohammad S, Mowat D, Niaz A, Palmer EE, Patel C, Patel SG, Phelan D, Pinner JR, Rajagopalan S, Regan M, Rodgers J, Rodrigues M, Roxburgh RH, Sachdev R, Roscioli T, Samarasekera R, Sandaradura SA, Savva E, Schindler T, Shah M, Sinnerbrink IB, Smith JM, Smith RJ, Springer A, Stark Z, Strom SP, Sue CM, Tan K, Tan TY, Tantsis E, Tchan MC, Thompson BA, Trainer AH, van Spaendonck-Zwarts K, Walsh R, Warwick L, White S, White SM, Williams MG, Wilson MJ, Wong WK, Wright DC, Yap P, Yeung A, Young H, Jones KJ, Bennetts… See abstract for full author list ➔ Bournazos AM, et al. Genet Med. 2022 Jan;24(1):130-145. doi: 10.1016/j.gim.2021.09.001. Epub 2021 Nov 30. Genet Med. 2022. PMID: 34906502 Free article.
Spinal cord stimulation: a review.
Compton AK, Shah B, Hayek SM. Compton AK, et al. Curr Pain Headache Rep. 2012 Feb;16(1):35-42. doi: 10.1007/s11916-011-0238-7. Curr Pain Headache Rep. 2012. PMID: 22086473 Review.
CD225 Proteins: A Family Portrait of Fusion Regulators.
Coomer CA, Rahman K, Compton AA. Coomer CA, et al. Among authors: compton aa. Trends Genet. 2021 May;37(5):406-410. doi: 10.1016/j.tig.2021.01.004. Epub 2021 Jan 29. Trends Genet. 2021. PMID: 33518406
Multi-omics identifies large mitoribosomal subunit instability caused by pathogenic MRPL39 variants as a cause of pediatric onset mitochondrial disease.
Amarasekera SSC, Hock DH, Lake NJ, Calvo SE, Grønborg SW, Krzesinski EI, Amor DJ, Fahey MC, Simons C, Wibrand F, Mootha VK, Lek M, Lunke S, Stark Z, Østergaard E, Christodoulou J, Thorburn DR, Stroud DA, Compton AG. Amarasekera SSC, et al. Among authors: compton ag. Hum Mol Genet. 2023 Jul 20;32(15):2441-2454. doi: 10.1093/hmg/ddad069. Hum Mol Genet. 2023. PMID: 37133451 Free PMC article.
Recent advances and future perspectives in vector-omics.
Compton A, Sharakhov IV, Tu Z. Compton A, et al. Curr Opin Insect Sci. 2020 Aug;40:94-103. doi: 10.1016/j.cois.2020.05.006. Epub 2020 May 29. Curr Opin Insect Sci. 2020. PMID: 32650287 Free PMC article. Review.
Fatal perinatal mitochondrial cardiac failure caused by recurrent de novo duplications in the ATAD3 locus.
Frazier AE, Compton AG, Kishita Y, Hock DH, Welch AE, Amarasekera SSC, Rius R, Formosa LE, Imai-Okazaki A, Francis D, Wang M, Lake NJ, Tregoning S, Jabbari JS, Lucattini A, Nitta KR, Ohtake A, Murayama K, Amor DJ, McGillivray G, Wong FY, van der Knaap MS, Jeroen Vermeulen R, Wiltshire EJ, Fletcher JM, Lewis B, Baynam G, Ellaway C, Balasubramaniam S, Bhattacharya K, Freckmann ML, Arbuckle S, Rodriguez M, Taft RJ, Sadedin S, Cowley MJ, Minoche AE, Calvo SE, Mootha VK, Ryan MT, Okazaki Y, Stroud DA, Simons C, Christodoulou J, Thorburn DR. Frazier AE, et al. Among authors: compton ag. Med. 2021 Jan 15;2(1):49-73. doi: 10.1016/j.medj.2020.06.004. Epub 2020 Jul 9. Med. 2021. PMID: 33575671 Free PMC article.
297 results