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2002 1
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Page 1
Sequence Ontology terminology for gene regulation.
Sant DW, Sinclair M, Mungall CJ, Schulz S, Zerbino D, Lovering RC, Logie C, Eilbeck K. Sant DW, et al. Biochim Biophys Acta Gene Regul Mech. 2021 Oct;1864(10):194745. doi: 10.1016/j.bbagrm.2021.194745. Epub 2021 Aug 11. Biochim Biophys Acta Gene Regul Mech. 2021. PMID: 34389511
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 in Life Cycle of Information Technology (ELICIT) framework: Supporting the innovation life cycle from business case assessment to summative evaluation.
Kukhareva PV, Weir C, Del Fiol G, Aarons GA, Taft TY, Schlechter CR, Reese TJ, Curran RL, Nanjo C, Borbolla D, Staes CJ, Morgan KL, Kramer HS, Stipelman CH, Shakib JH, Flynn MC, Kawamoto K. Kukhareva PV, et al. J Biomed Inform. 2022 Mar;127:104014. doi: 10.1016/j.jbi.2022.104014. Epub 2022 Feb 12. J Biomed Inform. 2022. PMID: 35167977 Free PMC article. Review.
ClinGen--the Clinical Genome Resource.
Rehm HL, Berg JS, Brooks LD, Bustamante CD, Evans JP, Landrum MJ, Ledbetter DH, Maglott DR, Martin CL, Nussbaum RL, Plon SE, Ramos EM, Sherry ST, Watson MS; ClinGen. Rehm HL, et al. N Engl J Med. 2015 Jun 4;372(23):2235-42. doi: 10.1056/NEJMsr1406261. Epub 2015 May 27. N Engl J Med. 2015. PMID: 26014595 Free PMC article.
205 results