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

Year Number of Results
1895 1
1954 2
1957 1
1959 1
1965 1
1969 1
1970 2
1975 1
1976 2
1977 2
1980 5
1981 2
1982 3
1983 1
1984 4
1985 1
1987 2
1988 2
1989 3
1990 2
1991 1
1992 3
1993 2
1994 2
1995 5
1996 5
1997 1
1998 7
1999 5
2000 2
2001 3
2002 3
2003 3
2005 3
2006 5
2007 3
2008 6
2009 7
2010 11
2011 17
2012 13
2013 9
2014 10
2015 8
2016 5
2017 6
2018 3
2019 4
2020 2
2021 1
2022 0
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177 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. Among authors: short pj. 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.
Quantifying the contribution of recessive coding variation to developmental disorders.
Martin HC, Jones WD, McIntyre R, Sanchez-Andrade G, Sanderson M, Stephenson JD, Jones CP, Handsaker J, Gallone G, Bruntraeger M, McRae JF, Prigmore E, Short P, Niemi M, Kaplanis J, Radford EJ, Akawi N, Balasubramanian M, Dean J, Horton R, Hulbert A, Johnson DS, Johnson K, Kumar D, Lynch SA, Mehta SG, Morton J, Parker MJ, Splitt M, Turnpenny PD, Vasudevan PC, Wright M, Bassett A, Gerety SS, Wright CF, FitzPatrick DR, Firth HV, Hurles ME, Barrett JC; Deciphering Developmental Disorders Study. Martin HC, et al. Among authors: short p. Science. 2018 Dec 7;362(6419):1161-1164. doi: 10.1126/science.aar6731. Epub 2018 Nov 8. Science. 2018. PMID: 30409806 Free PMC article.
Contribution of retrotransposition to developmental disorders.
Gardner EJ, Prigmore E, Gallone G, Danecek P, Samocha KE, Handsaker J, Gerety SS, Ironfield H, Short PJ, Sifrim A, Singh T, Chandler KE, Clement E, Lachlan KL, Prescott K, Rosser E, FitzPatrick DR, Firth HV, Hurles ME. Gardner EJ, et al. Among authors: short pj. Nat Commun. 2019 Oct 11;10(1):4630. doi: 10.1038/s41467-019-12520-y. Nat Commun. 2019. PMID: 31604926 Free PMC article.
Tiotropium in asthma.
Lipworth B, Manoharan A, Short P. Lipworth B, et al. Among authors: short p. N Engl J Med. 2012 Dec 27;367(26):2552; author reply 2553. doi: 10.1056/NEJMc1213076. N Engl J Med. 2012. PMID: 23268673 No abstract available.
Working at arthritis.
Short P, Jones AC, Walker D, Kavanaugh A, Moots RJ. Short P, et al. Rheumatology (Oxford). 2012 Feb;51(2):201-3. doi: 10.1093/rheumatology/ker415. Epub 2011 Dec 16. Rheumatology (Oxford). 2012. PMID: 22179726 No abstract available.
Pathogenicity and selective constraint on variation near splice sites.
Lord J, Gallone G, Short PJ, McRae JF, Ironfield H, Wynn EH, Gerety SS, He L, Kerr B, Johnson DS, McCann E, Kinning E, Flinter F, Temple IK, Clayton-Smith J, McEntagart M, Lynch SA, Joss S, Douzgou S, Dabir T, Clowes V, McConnell VPM, Lam W, Wright CF, FitzPatrick DR, Firth HV, Barrett JC, Hurles ME; Deciphering Developmental Disorders study. Lord J, et al. Among authors: short pj. Genome Res. 2019 Feb;29(2):159-170. doi: 10.1101/gr.238444.118. Epub 2018 Dec 26. Genome Res. 2019. PMID: 30587507 Free PMC article.
177 results