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

Year Number of Results
2006 1
2007 3
2008 2
2009 3
2010 4
2011 2
2013 1
2014 1
2015 4
2016 4
2018 4
2019 7
2020 7
2021 8
2022 7
2023 4
2024 2

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56 results

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Page 1
Next-Generation Sequencing and Emerging Technologies.
Kumar KR, Cowley MJ, Davis RL. Kumar KR, et al. Among authors: davis rl. Semin Thromb Hemost. 2024 May 1. doi: 10.1055/s-0044-1786397. Online ahead of print. Semin Thromb Hemost. 2024. PMID: 38692283
Genetic Testing of Movements Disorders: A Review of Clinical Utility.
Yeow D, Rudaks LI, Siow SF, Davis RL, Kumar KR. Yeow D, et al. Among authors: davis rl. Tremor Other Hyperkinet Mov (N Y). 2024 Jan 8;14:2. doi: 10.5334/tohm.835. eCollection 2024. Tremor Other Hyperkinet Mov (N Y). 2024. PMID: 38222898 Free PMC article. Review.
Introme accurately predicts the impact of coding and noncoding variants on gene splicing, with clinical applications.
Sullivan PJ, Gayevskiy V, Davis RL, Wong M, Mayoh C, Mallawaarachchi A, Hort Y, McCabe MJ, Beecroft S, Jackson MR, Arts P, Dubowsky A, Laing N, Dinger ME, Scott HS, Oates E, Pinese M, Cowley MJ. Sullivan PJ, et al. Among authors: davis rl. Genome Biol. 2023 May 17;24(1):118. doi: 10.1186/s13059-023-02936-7. Genome Biol. 2023. PMID: 37198692 Free PMC article.
Low disease risk and penetrance in Leber hereditary optic neuropathy.
Watson EC, Davis RL, Ravishankar S, Copty J, Kummerfeld S, Sue CM. Watson EC, et al. Among authors: davis rl. Am J Hum Genet. 2023 Jan 5;110(1):166-169. doi: 10.1016/j.ajhg.2022.11.013. Epub 2022 Dec 23. Am J Hum Genet. 2023. PMID: 36565700 Free PMC article.
Use of Whole-Genome Sequencing for Mitochondrial Disease Diagnosis.
Davis RL, Kumar KR, Puttick C, Liang C, Ahmad KE, Edema-Hildebrand F, Park JS, Minoche AE, Gayevskiy V, Mallawaarachchi AC, Christodoulou J, Schofield D, Dinger ME, Cowley MJ, Sue CM. Davis RL, et al. Neurology. 2022 Aug 16;99(7):e730-e742. doi: 10.1212/WNL.0000000000200745. Epub 2022 May 31. Neurology. 2022. PMID: 35641312 Free PMC article.
Decompensation of cardiorespiratory function and emergence of anemia during pregnancy in a case of mitochondrial myopathy, lactic acidosis, and sideroblastic anemia 2 with compound heterozygous YARS2 pathogenic variants.
Rudaks LI, Watson E, Oboudiyat C, Kumar KR, Sullivan P, Cowley MJ, Davis RL, Sue CM. Rudaks LI, et al. Among authors: davis rl. Am J Med Genet A. 2022 Jul;188(7):2226-2230. doi: 10.1002/ajmg.a.62755. Epub 2022 Apr 8. Am J Med Genet A. 2022. PMID: 35393742 Free PMC article.
56 results