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

Year Number of Results
1995 1
1997 1
2000 1
2001 1
2002 1
2003 1
2005 2
2006 2
2007 3
2008 2
2009 4
2010 5
2011 6
2012 16
2013 11
2014 7
2015 6
2016 4
2017 2
2018 4
2019 4
2020 12
2021 8
2022 5
2023 2
2024 1

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95 results

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Page 1
Diagnostic utility of transcriptome sequencing for rare Mendelian diseases.
Lee H, Huang AY, Wang LK, Yoon AJ, Renteria G, Eskin A, Signer RH, Dorrani N, Nieves-Rodriguez S, Wan J, Douine ED, Woods JD, Dell'Angelica EC, Fogel BL, Martin MG, Butte MJ, Parker NH, Wang RT, Shieh PB, Wong DA, Gallant N, Singh KE, Tavyev Asher YJ, Sinsheimer JS, Krakow D, Loo SK, Allard P, Papp JC; Undiagnosed Diseases Network; Palmer CGS, Martinez-Agosto JA, Nelson SF. Lee H, et al. Genet Med. 2020 Mar;22(3):490-499. doi: 10.1038/s41436-019-0672-1. Epub 2019 Oct 14. Genet Med. 2020. PMID: 31607746 Free PMC article.
De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes.
Rivière JB, Mirzaa GM, O'Roak BJ, Beddaoui M, Alcantara D, Conway RL, St-Onge J, Schwartzentruber JA, Gripp KW, Nikkel SM, Worthylake T, Sullivan CT, Ward TR, Butler HE, Kramer NA, Albrecht B, Armour CM, Armstrong L, Caluseriu O, Cytrynbaum C, Drolet BA, Innes AM, Lauzon JL, Lin AE, Mancini GM, Meschino WS, Reggin JD, Saggar AK, Lerman-Sagie T, Uyanik G, Weksberg R, Zirn B, Beaulieu CL; Finding of Rare Disease Genes (FORGE) Canada Consortium; Majewski J, Bulman DE, O'Driscoll M, Shendure J, Graham JM Jr, Boycott KM, Dobyns WB. Rivière JB, et al. Nat Genet. 2012 Jun 24;44(8):934-40. doi: 10.1038/ng.2331. Nat Genet. 2012. PMID: 22729224 Free PMC article.
Clinical review of genetic epileptic encephalopathies.
Noh GJ, Jane Tavyev Asher Y, Graham JM Jr. Noh GJ, et al. Eur J Med Genet. 2012 May;55(5):281-98. doi: 10.1016/j.ejmg.2011.12.010. Epub 2012 Jan 25. Eur J Med Genet. 2012. PMID: 22342633 Free PMC article. Review.
Cytogenetic biomarkers for human cancer.
Keen-Kim D, Nooraie F, Rao PN. Keen-Kim D, et al. Front Biosci. 2008 May 1;13:5928-49. doi: 10.2741/3127. Front Biosci. 2008. PMID: 18508633 Review.
Dr Nurnberger and Colleagues Reply.
Nurnberger JI Jr, Austin J, Berrettini WH, Besterman AD, DeLisi LE, Grice DE, Kennedy JL, Moreno-De-Luca D, Potash JB, Ross DA, Schulze TG, Zai G. Nurnberger JI Jr, et al. J Clin Psychiatry. 2019 Apr 9;80(3):19lr12741a. doi: 10.4088/JCP.19lr12741a. J Clin Psychiatry. 2019. PMID: 30997963 Free PMC article. No abstract available.
95 results