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The Medical Action Ontology: A tool for annotating and analyzing treatments and clinical management of human disease.
Carmody LC, Gargano MA, Toro S, Vasilevsky NA, Adam MP, Blau H, Chan LE, Gomez-Andres D, Horvath R, Kraus ML, Ladewig MS, Lewis-Smith D, Lochmüller H, Matentzoglu NA, Munoz-Torres MC, Schuetz C, Seitz B, Similuk MN, Sparks TN, Strauss T, Swietlik EM, Thompson R, Zhang XA, Mungall CJ, Haendel MA, Robinson PN. Carmody LC, et al. Among authors: gargano ma. Med. 2023 Dec 8;4(12):913-927.e3. doi: 10.1016/j.medj.2023.10.003. Epub 2023 Nov 13. Med. 2023. PMID: 37963467 Free article.
The Human Phenotype Ontology in 2024: phenotypes around the world.
Gargano MA, Matentzoglu N, Coleman B, Addo-Lartey EB, Anagnostopoulos AV, Anderton J, Avillach P, Bagley AM, Bakštein E, Balhoff JP, Baynam G, Bello SM, Berk M, Bertram H, Bishop S, Blau H, Bodenstein DF, Botas P, Boztug K, Čady J, Callahan TJ, Cameron R, Carbon SJ, Castellanos F, Caufield JH, Chan LE, Chute CG, Cruz-Rojo J, Dahan-Oliel N, Davids JR, de Dieuleveult M, de Souza V, de Vries BBA, de Vries E, DePaulo JR, Derfalvi B, Dhombres F, Diaz-Byrd C, Dingemans AJM, Donadille B, Duyzend M, Elfeky R, Essaid S, Fabrizzi C, Fico G, Firth HV, Freudenberg-Hua Y, Fullerton JM, Gabriel DL, Gilmour K, Giordano J, Goes FS, Moses RG, Green I, Griese M, Groza T, Gu W, Guthrie J, Gyori B, Hamosh A, Hanauer M, Hanušová K, He YO, Hegde H, Helbig I, Holasová K, Hoyt CT, Huang S, Hurwitz E, Jacobsen JOB, Jiang X, Joseph L, Keramatian K, King B, Knoflach K, Koolen DA, Kraus ML, Kroll C, Kusters M, Ladewig MS, Lagorce D, Lai MC, Lapunzina P, Laraway B, Lewis-Smith D, Li X, Lucano C, Majd M, Marazita ML, Martinez-Glez V, McHenry TH, McInnis MG, McMurry JA, Mihulová M, Millett CE, Mitchell PB, Moslerová V, Narutomi K, Nematollahi S, Nevado J, Nierenberg AA, Čajbiková NN, Nurnberger JI Jr, Og… See abstract for full author list ➔ Gargano MA, et al. Nucleic Acids Res. 2024 Jan 5;52(D1):D1333-D1346. doi: 10.1093/nar/gkad1005. Nucleic Acids Res. 2024. PMID: 37953324 Free PMC article.
De novo TRPM3 missense variant associated with neurodevelopmental delay and manifestations of cerebral palsy.
Sundaramurthi JC, Bagley AM, Blau H, Carmody L, Crandall A, Danis D, Gargano MA, Gustafson AG, Raney EM, Shingle M, Davids JR, Robinson PN. Sundaramurthi JC, et al. Among authors: gargano ma. Cold Spring Harb Mol Case Stud. 2024 Jan 10;9(4):a006293. doi: 10.1101/mcs.a006293. Print 2023 Dec. Cold Spring Harb Mol Case Stud. 2024. PMID: 37684057 Free PMC article.
The Medical Action Ontology: A Tool for Annotating and Analyzing Treatments and Clinical Management of Human Disease.
Carmody LC, Gargano MA, Toro S, Vasilevsky NA, Adam MP, Blau H, Chan LE, Gomez-Andres D, Horvath R, Kraus ML, Ladewig MS, Lewis-Smith D, Lochmüller H, Matentzoglu NA, Munoz-Torres MC, Schuetz C, Seitz B, Similuk MN, Sparks TN, Strauss T, Swietlik EM, Thompson R, Zhang XA, Mungall CJ, Haendel MA, Robinson PN. Carmody LC, et al. Among authors: gargano ma. medRxiv [Preprint]. 2023 Jul 13:2023.07.13.23292612. doi: 10.1101/2023.07.13.23292612. medRxiv. 2023. PMID: 37503136 Free PMC article. Updated. Preprint.
The GA4GH Phenopacket schema defines a computable representation of clinical data.
Jacobsen JOB, Baudis M, Baynam GS, Beckmann JS, Beltran S, Buske OJ, Callahan TJ, Chute CG, Courtot M, Danis D, Elemento O, Essenwanger A, Freimuth RR, Gargano MA, Groza T, Hamosh A, Harris NL, Kaliyaperumal R, Lloyd KCK, Khalifa A, Krawitz PM, Köhler S, Laraway BJ, Lehväslaiho H, Matalonga L, McMurry JA, Metke-Jimenez A, Mungall CJ, Munoz-Torres MC, Ogishima S, Papakonstantinou A, Piscia D, Pontikos N, Queralt-Rosinach N, Roos M, Sass J, Schofield PN, Seelow D, Siapos A, Smedley D, Smith LD, Steinhaus R, Sundaramurthi JC, Swietlik EM, Thun S, Vasilevsky NA, Wagner AH, Warner JL, Weiland C; GAGH Phenopacket Modeling Consortium; Haendel MA, Robinson PN. Jacobsen JOB, et al. Among authors: gargano ma. Nat Biotechnol. 2022 Jun;40(6):817-820. doi: 10.1038/s41587-022-01357-4. Nat Biotechnol. 2022. PMID: 35705716 Free PMC article. No abstract available.
Interpretable Clinical Genomics with a Likelihood Ratio Paradigm.
Robinson PN, Ravanmehr V, Jacobsen JOB, Danis D, Zhang XA, Carmody LC, Gargano MA, Thaxton CL; UNC Biocuration Core; Karlebach G, Reese J, Holtgrewe M, Köhler S, McMurry JA, Haendel MA, Smedley D. Robinson PN, et al. Among authors: gargano ma. Am J Hum Genet. 2020 Sep 3;107(3):403-417. doi: 10.1016/j.ajhg.2020.06.021. Epub 2020 Aug 4. Am J Hum Genet. 2020. PMID: 32755546 Free PMC article.
15 results