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Page 1
The Gene Ontology knowledgebase in 2023.
Gene Ontology Consortium; Aleksander SA, Balhoff J, Carbon S, Cherry JM, Drabkin HJ, Ebert D, Feuermann M, Gaudet P, Harris NL, Hill DP, Lee R, Mi H, Moxon S, Mungall CJ, Muruganugan A, Mushayahama T, Sternberg PW, Thomas PD, Van Auken K, Ramsey J, Siegele DA, Chisholm RL, Fey P, Aspromonte MC, Nugnes MV, Quaglia F, Tosatto S, Giglio M, Nadendla S, Antonazzo G, Attrill H, Dos Santos G, Marygold S, Strelets V, Tabone CJ, Thurmond J, Zhou P, Ahmed SH, Asanitthong P, Luna Buitrago D, Erdol MN, Gage MC, Ali Kadhum M, Li KYC, Long M, Michalak A, Pesala A, Pritazahra A, Saverimuttu SCC, Su R, Thurlow KE, Lovering RC, Logie C, Oliferenko S, Blake J, Christie K, Corbani L, Dolan ME, Drabkin HJ, Hill DP, Ni L, Sitnikov D, Smith C, Cuzick A, Seager J, Cooper L, Elser J, Jaiswal P, Gupta P, Jaiswal P, Naithani S, Lera-Ramirez M, Rutherford K, Wood V, De Pons JL, Dwinell MR, Hayman GT, Kaldunski ML, Kwitek AE, Laulederkind SJF, Tutaj MA, Vedi M, Wang SJ, D'Eustachio P, Aimo L, Axelsen K, Bridge A, Hyka-Nouspikel N, Morgat A, Aleksander SA, Cherry JM, Engel SR, Karra K, Miyasato SR, Nash RS, Skrzypek MS, Weng S, Wong ED, Bakker E, Berardini TZ, Reiser L, Auchincloss A, Axelsen K, Argoud… See abstract for full author list ➔ Gene Ontology Consortium, et al. Among authors: mungall cj. Genetics. 2023 May 4;224(1):iyad031. doi: 10.1093/genetics/iyad031. Genetics. 2023. PMID: 36866529 Free PMC article. Review.
Efficient reinterpretation of rare disease cases using Exomiser.
Vestito L, Jacobsen JOB, Walker S, Cipriani V, Harris NL, Haendel MA, Mungall CJ, Robinson P, Smedley D. Vestito L, et al. Among authors: mungall cj. NPJ Genom Med. 2024 Dec 18;9(1):65. doi: 10.1038/s41525-024-00456-2. NPJ Genom Med. 2024. PMID: 39695184 Free PMC article.
Dynamic Retrieval Augmented Generation of Ontologies using Artificial Intelligence (DRAGON-AI).
Toro S, Anagnostopoulos AV, Bello SM, Blumberg K, Cameron R, Carmody L, Diehl AD, Dooley DM, Duncan WD, Fey P, Gaudet P, Harris NL, Joachimiak MP, Kiani L, Lubiana T, Munoz-Torres MC, O'Neil S, Osumi-Sutherland D, Puig-Barbe A, Reese JT, Reiser L, Robb SM, Ruemping T, Seager J, Sid E, Stefancsik R, Weber M, Wood V, Haendel MA, Mungall CJ. Toro S, et al. Among authors: mungall cj. J Biomed Semantics. 2024 Oct 17;15(1):19. doi: 10.1186/s13326-024-00320-3. J Biomed Semantics. 2024. PMID: 39415214 Free PMC article.
A corpus of GA4GH phenopackets: Case-level phenotyping for genomic diagnostics and discovery.
Danis D, Bamshad MJ, Bridges Y, Caballero-Oteyza A, Cacheiro P, Carmody LC, Chimirri L, Chong JX, Coleman B, Dalgleish R, Freeman PJ, Graefe ASL, Groza T, Hansen P, Jacobsen JOB, Klocperk A, Kusters M, Ladewig MS, Marcello AJ, Mattina T, Mungall CJ, Munoz-Torres MC, Reese JT, Rehburg F, Reis BCS, Schuetz C, Smedley D, Strauss T, Sundaramurthi JC, Thun S, Wissink K, Wagstaff JF, Zocche D, Haendel MA, Robinson PN. Danis D, et al. Among authors: mungall cj. HGG Adv. 2024 Oct 10;6(1):100371. doi: 10.1016/j.xhgg.2024.100371. Online ahead of print. HGG Adv. 2024. PMID: 39394689 Free PMC article.
The Unified Phenotype Ontology (uPheno): A framework for cross-species integrative phenomics.
Matentzoglu N, Bello SM, Stefancsik R, Alghamdi SM, Anagnostopoulos AV, Balhoff JP, Balk MA, Bradford YM, Bridges Y, Callahan TJ, Caufield H, Cuzick A, Carmody LC, Caron AR, de Souza V, Engel SR, Fey P, Fisher M, Gehrke S, Grove C, Hansen P, Harris NL, Harris MA, Harris L, Ibrahim A, Jacobsen JOB, Köhler S, McMurry JA, Munoz-Fuentes V, Munoz-Torres MC, Parkinson H, Pendlington ZM, Pilgrim C, Robb SM, Robinson PN, Seager J, Segerdell E, Smedley D, Sollis E, Toro S, Vasilevsky N, Wood V, Haendel MA, Mungall CJ, McLaughlin JA, Osumi-Sutherland D. Matentzoglu N, et al. Among authors: mungall cj. bioRxiv [Preprint]. 2024 Sep 22:2024.09.18.613276. doi: 10.1101/2024.09.18.613276. bioRxiv. 2024. PMID: 39345458 Free PMC article. Preprint.
Leveraging Generative AI to Accelerate Biocuration of Medical Actions for Rare Disease.
Niyonkuru E, Caufield JH, Carmody LC, Gargano MA, Toro S, Whetzel PL, Blau H, Gomez MS, Casiraghi E, Chimirri L, Reese JT, Valentini G, Haendel MA, Mungall CJ, Robinson PN. Niyonkuru E, et al. Among authors: mungall cj. medRxiv [Preprint]. 2024 Aug 22:2024.08.22.24310814. doi: 10.1101/2024.08.22.24310814. medRxiv. 2024. PMID: 39228707 Free PMC article. Preprint.
Systematic benchmarking demonstrates large language models have not reached the diagnostic accuracy of traditional rare-disease decision support tools.
Reese JT, Chimirri L, Bridges Y, Danis D, Caufield JH, Wissink K, McMurry JA, Graefe AS, Casiraghi E, Valentini G, Jacobsen JO, Haendel M, Smedley D, Mungall CJ, Robinson PN. Reese JT, et al. Among authors: mungall cj. medRxiv [Preprint]. 2024 Nov 7:2024.07.22.24310816. doi: 10.1101/2024.07.22.24310816. medRxiv. 2024. PMID: 39108510 Free PMC article. Preprint.
Towards a standard benchmark for variant and gene prioritisation algorithms: PhEval - Phenotypic inference Evaluation framework.
Bridges Y, de Souza V, Cortes KG, Haendel M, Harris NL, Korn DR, Marinakis NM, Matentzoglu N, McLaughlin JA, Mungall CJ, Osumi-Sutherland D, Robinson PN, Smedley D, Jacobsen JO. Bridges Y, et al. Among authors: mungall cj. bioRxiv [Preprint]. 2024 Jun 16:2024.06.13.598672. doi: 10.1101/2024.06.13.598672. bioRxiv. 2024. PMID: 38915571 Free PMC article. Preprint.
175 results