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

Year Number of Results
2002 2
2004 4
2005 3
2006 9
2007 5
2008 7
2009 7
2010 11
2011 18
2012 18
2013 23
2014 24
2015 33
2016 19
2017 18
2018 6
2019 15
2020 17
2021 25
2022 25
2023 27
2024 14

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300 results

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Page 1
Predicting nutrition and environmental factors associated with female reproductive disorders using a knowledge graph and random forests.
Chan LE, Casiraghi E, Reese J, Harmon QE, Schaper K, Hegde H, Valentini G, Schmitt C, Motsinger-Reif A, Hall JE, Mungall CJ, Robinson PN, Haendel MA. Chan LE, et al. Among authors: robinson pn. Int J Med Inform. 2024 Apr 17;187:105461. doi: 10.1016/j.ijmedinf.2024.105461. Online ahead of print. Int J Med Inform. 2024. PMID: 38643701
Lethal phenotypes in Mendelian disorders.
Cacheiro P, Lawson S, Van den Veyver IB, Marengo G, Zocche D, Murray SA, Duyzend M, Robinson PN, Smedley D. Cacheiro P, et al. Among authors: robinson pn. Genet Med. 2024 Apr 13:101141. doi: 10.1016/j.gim.2024.101141. Online ahead of print. Genet Med. 2024. PMID: 38629401 Free article.
An open source knowledge graph ecosystem for the life sciences.
Callahan TJ, Tripodi IJ, Stefanski AL, Cappelletti L, Taneja SB, Wyrwa JM, Casiraghi E, Matentzoglu NA, Reese J, Silverstein JC, Hoyt CT, Boyce RD, Malec SA, Unni DR, Joachimiak MP, Robinson PN, Mungall CJ, Cavalleri E, Fontana T, Valentini G, Mesiti M, Gillenwater LA, Santangelo B, Vasilevsky NA, Hoehndorf R, Bennett TD, Ryan PB, Hripcsak G, Kahn MG, Bada M, Baumgartner WA Jr, Hunter LE. Callahan TJ, et al. Among authors: robinson pn. Sci Data. 2024 Apr 11;11(1):363. doi: 10.1038/s41597-024-03171-w. Sci Data. 2024. PMID: 38605048 Free PMC article.
Node-degree aware edge sampling mitigates inflated classification performance in biomedical random walk-based graph representation learning.
Cappelletti L, Rekerle L, Fontana T, Hansen P, Casiraghi E, Ravanmehr V, Mungall CJ, Yang JJ, Spranger L, Karlebach G, Caufield JH, Carmody L, Coleman B, Oprea TI, Reese J, Valentini G, Robinson PN. Cappelletti L, et al. Among authors: robinson pn. Bioinform Adv. 2024 Mar 4;4(1):vbae036. doi: 10.1093/bioadv/vbae036. eCollection 2024. Bioinform Adv. 2024. PMID: 38577542 Free PMC article.
Structured Prompt Interrogation and Recursive Extraction of Semantics (SPIRES): a method for populating knowledge bases using zero-shot learning.
Caufield JH, Hegde H, Emonet V, Harris NL, Joachimiak MP, Matentzoglu N, Kim H, Moxon S, Reese JT, Haendel MA, Robinson PN, Mungall CJ. Caufield JH, et al. Among authors: robinson pn. Bioinformatics. 2024 Mar 4;40(3):btae104. doi: 10.1093/bioinformatics/btae104. Bioinformatics. 2024. PMID: 38383067 Free PMC article.
An evaluation of GPT models for phenotype concept recognition.
Groza T, Caufield H, Gration D, Baynam G, Haendel MA, Robinson PN, Mungall CJ, Reese JT. Groza T, et al. Among authors: robinson pn. BMC Med Inform Decis Mak. 2024 Jan 31;24(1):30. doi: 10.1186/s12911-024-02439-w. BMC Med Inform Decis Mak. 2024. PMID: 38297371 Free PMC article.
Lethal phenotypes in Mendelian disorders.
Cacheiro P, Lawson S, Van den Veyver IB, Marengo G, Zocche D, Murray SA, Duyzend M, Robinson PN, Smedley D. Cacheiro P, et al. Among authors: robinson pn. medRxiv [Preprint]. 2024 Jan 13:2024.01.12.24301168. doi: 10.1101/2024.01.12.24301168. medRxiv. 2024. PMID: 38260283 Free PMC article. Updated. Preprint.
Improving prenatal diagnosis through standards and aggregation.
Duyzend MH, Cacheiro P, Jacobsen JOB, Giordano J, Brand H, Wapner RJ, Talkowski ME, Robinson PN, Smedley D. Duyzend MH, et al. Among authors: robinson pn. Prenat Diagn. 2024 Apr;44(4):454-464. doi: 10.1002/pd.6522. Epub 2024 Jan 19. Prenat Diagn. 2024. PMID: 38242839 Review.
Rare disease gene association discovery from burden analysis of the 100,000 Genomes Project data.
Cipriani V, Vestito L, Magavern EF, Jacobsen JO, Arno G, Behr ER, Benson KA, Bertoli M, Bockenhauer D, Bowl MR, Burley K, Chan LF, Chinnery P, Conlon P, Costa M, Davidson AE, Dawson SJ, Elhassan E, Flanagan SE, Futema M, Gale DP, García-Ruiz S, Corcia CG, Griffin HR, Hambleton S, Hicks AR, Houlden H, Houlston RS, Howles SA, Kleta R, Lekkerkerker I, Lin S, Liskova P, Mitchison H, Morsy H, Mumford AD, Newman WG, Neatu R, O'Toole EA, Ong AC, Pagnamenta AT, Rahman S, Rajan N, Robinson PN, Ryten M, Sadeghi-Alavijeh O, Sayer JA, Shovlin CL, Taylor JC, Teltsh O, Tomlinson I, Tucci A, Turnbull C, van Eerde AM, Ware JS, Watts LM, Webster AR, Westbury SK, Zheng SL, Caulfield M, Smedley D. Cipriani V, et al. Among authors: robinson pn. medRxiv [Preprint]. 2023 Dec 21:2023.12.20.23300294. doi: 10.1101/2023.12.20.23300294. medRxiv. 2023. PMID: 38196618 Free PMC article. Preprint.
GRAPE for fast and scalable graph processing and random-walk-based embedding.
Cappelletti L, Fontana T, Casiraghi E, Ravanmehr V, Callahan TJ, Cano C, Joachimiak MP, Mungall CJ, Robinson PN, Reese J, Valentini G. Cappelletti L, et al. Among authors: robinson pn. Nat Comput Sci. 2023 Jun;3(6):552-568. doi: 10.1038/s43588-023-00465-8. Epub 2023 Jun 26. Nat Comput Sci. 2023. PMID: 38177435 Free PMC article.
300 results