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126 results

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The precision medicine process for treating rare disease using the artificial intelligence tool mediKanren.
Foksinska A, Crowder CM, Crouse AB, Henrikson J, Byrd WE, Rosenblatt G, Patton MJ, He K, Tran-Nguyen TK, Zheng M, Ramsey SA, Amin N, Osborne J; UAB Precision Medicine Institute; Might M. Foksinska A, et al. Among authors: might m. Front Artif Intell. 2022 Sep 30;5:910216. doi: 10.3389/frai.2022.910216. eCollection 2022. Front Artif Intell. 2022. PMID: 36248623 Free PMC article.
The Undiagnosed Diseases Network: Accelerating Discovery about Health and Disease.
Ramoni RB, Mulvihill JJ, Adams DR, Allard P, Ashley EA, Bernstein JA, Gahl WA, Hamid R, Loscalzo J, McCray AT, Shashi V, Tifft CJ; Undiagnosed Diseases Network; Wise AL. Ramoni RB, et al. Am J Hum Genet. 2017 Feb 2;100(2):185-192. doi: 10.1016/j.ajhg.2017.01.006. Am J Hum Genet. 2017. PMID: 28157539 Free PMC article.
De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia.
Kanca O, Andrews JC, Lee PT, Patel C, Braddock SR, Slavotinek AM, Cohen JS, Gubbels CS, Aldinger KA, Williams J, Indaram M, Fatemi A, Yu TW, Agrawal PB, Vezina G, Simons C, Crawford J, Lau CC; Undiagnosed Diseases Network; Chung WK, Markello TC, Dobyns WB, Adams DR, Gahl WA, Wangler MF, Yamamoto S, Bellen HJ, Malicdan MCV. Kanca O, et al. Am J Hum Genet. 2019 Sep 5;105(3):672-674. doi: 10.1016/j.ajhg.2019.07.017. Am J Hum Genet. 2019. PMID: 31491411 Free PMC article. No abstract available.
N-of-1 Precision Medicine and Research Oversight.
Crouse A, Nakano-Okuno M, Might M, May T. Crouse A, et al. Among authors: might m. Am J Bioeth. 2019 Aug;19(8):36-37. doi: 10.1080/15265161.2019.1619871. Am J Bioeth. 2019. PMID: 31544631 No abstract available.
Progress toward a universal biomedical data translator.
Fecho K, Thessen AE, Baranzini SE, Bizon C, Hadlock JJ, Huang S, Roper RT, Southall N, Ta C, Watkins PB, Williams MD, Xu H, Byrd W, Dančík V, Duby MP, Dumontier M, Glusman G, Harris NL, Hinderer EW, Hyde G, Johs A, Su AI, Qin G, Zhu Q; Biomedical Data Translator Consortium. Fecho K, et al. Clin Transl Sci. 2022 May 25;15(8):1838-47. doi: 10.1111/cts.13301. Online ahead of print. Clin Transl Sci. 2022. PMID: 35611543 Free PMC article. Review.
Biolink Model: A universal schema for knowledge graphs in clinical, biomedical, and translational science.
Unni DR, Moxon SAT, Bada M, Brush M, Bruskiewich R, Caufield JH, Clemons PA, Dancik V, Dumontier M, Fecho K, Glusman G, Hadlock JJ, Harris NL, Joshi A, Putman T, Qin G, Ramsey SA, Shefchek KA, Solbrig H, Soman K, Thessen AE, Haendel MA, Bizon C, Mungall CJ; Biomedical Data Translator Consortium. Unni DR, et al. Clin Transl Sci. 2022 Aug;15(8):1848-1855. doi: 10.1111/cts.13302. Epub 2022 Jun 6. Clin Transl Sci. 2022. PMID: 36125173 Free PMC article. Review.
Circulating SARS-CoV-2+ megakaryocytes are associated with severe viral infection in COVID-19.
Fortmann SD, Patton MJ, Frey BF, Tipper JL, Reddy SB, Vieira CP, Hanumanthu VS, Sterrett S, Floyd JL, Prasad R, Zucker JD, Crouse AB, Huls F, Chkheidze R, Li P, Erdmann NB, Harrod KS, Gaggar A, Goepfert PA, Grant MB, Might M. Fortmann SD, et al. Among authors: might m. Blood Adv. 2023 Aug 8;7(15):4200-4214. doi: 10.1182/bloodadvances.2022009022. Blood Adv. 2023. PMID: 36920790 Free PMC article.
126 results