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

Year Number of Results
1996 1
1998 2
1999 4
2000 9
2001 6
2002 4
2003 3
2004 3
2005 5
2006 2
2007 7
2008 26
2009 27
2010 45
2011 48
2012 49
2013 30
2014 27
2015 20
2016 15
2017 17
2018 8
2019 6
2020 8
2021 4
2024 0

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317 results

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Page 1
Human genome sequencing in health and disease.
Gonzaga-Jauregui C, Lupski JR, Gibbs RA. Gonzaga-Jauregui C, et al. Annu Rev Med. 2012;63:35-61. doi: 10.1146/annurev-med-051010-162644. Annu Rev Med. 2012. PMID: 22248320 Free PMC article. Review.
Argininosuccinate lyase deficiency.
Nagamani SC, Erez A, Lee B. Nagamani SC, et al. Genet Med. 2012 May;14(5):501-7. doi: 10.1038/gim.2011.1. Epub 2012 Jan 5. Genet Med. 2012. PMID: 22241104 Free PMC article. Review.
The MECP2 duplication syndrome.
Ramocki MB, Tavyev YJ, Peters SU. Ramocki MB, et al. Am J Med Genet A. 2010 May;152A(5):1079-88. doi: 10.1002/ajmg.a.33184. Am J Med Genet A. 2010. PMID: 20425814 Free PMC article. Review.
Optimizing therapy for argininosuccinic aciduria.
Nagamani SC, Lee B, Erez A. Nagamani SC, et al. Mol Genet Metab. 2012 Sep;107(1-2):10-4. doi: 10.1016/j.ymgme.2012.07.009. Epub 2012 Jul 20. Mol Genet Metab. 2012. PMID: 22841516 Free PMC article. Review.
Genomic medicine and neurological disease.
Boone PM, Wiszniewski W, Lupski JR. Boone PM, et al. Hum Genet. 2011 Jul;130(1):103-21. doi: 10.1007/s00439-011-1001-1. Epub 2011 May 19. Hum Genet. 2011. PMID: 21594611 Free PMC article. Review.
Mechanisms of change in gene copy number.
Hastings PJ, Lupski JR, Rosenberg SM, Ira G. Hastings PJ, et al. Nat Rev Genet. 2009 Aug;10(8):551-64. doi: 10.1038/nrg2593. Nat Rev Genet. 2009. PMID: 19597530 Free PMC article. Review.
317 results