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

Year Number of Results
1972 1
1974 1
1977 1
1981 2
1982 2
1983 1
1984 3
1985 1
1986 3
1987 3
1988 3
1989 3
1990 4
1991 7
1992 7
1993 20
1994 14
1995 15
1996 13
1997 15
1998 23
1999 32
2000 13
2001 22
2002 31
2003 35
2004 18
2005 33
2006 50
2007 60
2008 60
2009 55
2010 96
2011 88
2012 93
2013 129
2014 140
2015 136
2016 146
2017 169
2018 171
2019 95
2020 4
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1,590 results
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Page 1
Prevalence and architecture of de novo mutations in developmental disorders.
Deciphering Developmental Disorders Study. Deciphering Developmental Disorders Study. Nature. 2017 Feb 23;542(7642):433-438. doi: 10.1038/nature21062. Epub 2017 Jan 25. Nature. 2017. PMID: 28135719 Free PMC article.
Large-scale discovery of novel genetic causes of developmental disorders.
Deciphering Developmental Disorders Study. Deciphering Developmental Disorders Study. Nature. 2015 Mar 12;519(7542):223-8. doi: 10.1038/nature14135. Epub 2014 Dec 24. Nature. 2015. PMID: 25533962 Free PMC article.
5p deletions: Current knowledge and future directions.
Nguyen JM, Qualmann KJ, Okashah R, Reilly A, Alexeyev MF, Campbell DJ. Nguyen JM, et al. Am J Med Genet C Semin Med Genet. 2015 Sep;169(3):224-38. doi: 10.1002/ajmg.c.31444. Epub 2015 Aug 3. Am J Med Genet C Semin Med Genet. 2015. PMID: 26235846 Free PMC article. Review.
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. Science. 2018 Dec 7;362(6419):1161-1164. doi: 10.1126/science.aar6731. Epub 2018 Nov 8. Science. 2018. PMID: 30409806 Free PMC article.
A genetic approach to evaluation of short stature of undetermined cause.
Murray PG, Clayton PE, Chernausek SD. Murray PG, et al. Lancet Diabetes Endocrinol. 2018 Jul;6(7):564-574. doi: 10.1016/S2213-8587(18)30034-2. Epub 2018 Feb 1. Lancet Diabetes Endocrinol. 2018. PMID: 29397377 Review.
Delineating the psychiatric and behavioral phenotype of recurrent 2q13 deletions and duplications.
Wolfe K, McQuillin A, Alesi V, Boudry Labis E, Cutajar P, Dallapiccola B, Dentici ML, Dieux-Coeslier A, Duban-Bedu B, Duelund Hjortshøj T, Goel H, Loddo S, Morrogh D, Mosca-Boidron AL, Novelli A, Olivier-Faivre L, Parker J, Parker MJ, Patch C, Pelling AL, Smol T, Tümer Z, Vanakker O, van Haeringen A, Vanlerberghe C, Strydom A, Skuse D, Bass N. Wolfe K, et al. Am J Med Genet B Neuropsychiatr Genet. 2018 Jun;177(4):397-405. doi: 10.1002/ajmg.b.32627. Epub 2018 Mar 31. Am J Med Genet B Neuropsychiatr Genet. 2018. PMID: 29603867 Free PMC article.
Delineating the phenotypic spectrum of Bainbridge-Ropers syndrome: 12 new patients with de novo, heterozygous, loss-of-function mutations in ASXL3 and review of published literature.
Balasubramanian M, Willoughby J, Fry AE, Weber A, Firth HV, Deshpande C, Berg JN, Chandler K, Metcalfe KA, Lam W, Pilz DT, Tomkins S. Balasubramanian M, et al. J Med Genet. 2017 Aug;54(8):537-543. doi: 10.1136/jmedgenet-2016-104360. Epub 2017 Jan 18. J Med Genet. 2017. PMID: 28100473 Free article. Review.
Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability.
Tatton-Brown K, Loveday C, Yost S, Clarke M, Ramsay E, Zachariou A, Elliott A, Wylie H, Ardissone A, Rittinger O, Stewart F, Temple IK, Cole T; Childhood Overgrowth Collaboration, Mahamdallie S, Seal S, Ruark E, Rahman N. Tatton-Brown K, et al. Am J Hum Genet. 2017 May 4;100(5):725-736. doi: 10.1016/j.ajhg.2017.03.010. Am J Hum Genet. 2017. PMID: 28475857 Free PMC article.
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