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

Year Number of Results
2002 1
2003 1
2005 2
2006 2
2007 7
2008 13
2009 11
2010 9
2011 13
2012 6
2013 8
2014 10
2015 20
2016 14
2017 22
2018 15
2019 6
2020 11
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2023 17
2024 7

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Page 1
Toward robust clinical genome interpretation: Developing a consistent terminology to characterize Mendelian disease-gene relationships-allelic requirement, inheritance modes, and disease mechanisms.
Roberts AM, DiStefano MT, Riggs ER, Josephs KS, Alkuraya FS, Amberger J, Amin M, Berg JS, Cunningham F, Eilbeck K, Firth HV, Foreman J, Hamosh A, Hay E, Leigh S, Martin CL, McDonagh EM, Perrett D, Ramos EM, Robinson PN, Rath A, Sant DW, Stark Z, Whiffin N, Rehm HL, Ware JS. Roberts AM, et al. Genet Med. 2024 Feb;26(2):101029. doi: 10.1016/j.gim.2023.101029. Epub 2023 Nov 17. Genet Med. 2024. PMID: 37982373 Free PMC article.
Evaluation of software impact designed for biomedical research: Are we measuring what's meaningful?
Afiaz A, Ivanov AA, Chamberlin J, Hanauer D, Savonen CL, Goldman MJ, Morgan M, Reich M, Getka A, Holmes A, Pati S, Knight D, Boutros PC, Bakas S, Caporaso JG, Del Fiol G, Hochheiser H, Haas B, Schloss PD, Eddy JA, Albrecht J, Fedorov A, Waldron L, Hoffman AM, Bradshaw RL, Leek JT, Wright C. Afiaz A, et al. ArXiv [Preprint]. 2023 Jun 5:arXiv:2306.03255v1. ArXiv. 2023. PMID: 37332562 Free PMC article. Preprint.
198 results