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Page 1
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: queralt rosinach n. 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.
A Simple Standard for Sharing Ontological Mappings (SSSOM).
Matentzoglu N, Balhoff JP, Bello SM, Bizon C, Brush M, Callahan TJ, Chute CG, Duncan WD, Evelo CT, Gabriel D, Graybeal J, Gray A, Gyori BM, Haendel M, Harmse H, Harris NL, Harrow I, Hegde HB, Hoyt AL, Hoyt CT, Jiao D, Jiménez-Ruiz E, Jupp S, Kim H, Koehler S, Liener T, Long Q, Malone J, McLaughlin JA, McMurry JA, Moxon S, Munoz-Torres MC, Osumi-Sutherland D, Overton JA, Peters B, Putman T, Queralt-Rosinach N, Shefchek K, Solbrig H, Thessen A, Tudorache T, Vasilevsky N, Wagner AH, Mungall CJ. Matentzoglu N, et al. Among authors: queralt rosinach n. Database (Oxford). 2022 May 25;2022:baac035. doi: 10.1093/database/baac035. Database (Oxford). 2022. PMID: 35616100 Free PMC article.
Enabling FAIR Discovery of Rare Disease Digital Resources.
Kaliyaperumal R, Queralt Rosinach N, Burger K, Bonino da Silva Santos LO, Hanauer M, Roos M. Kaliyaperumal R, et al. Among authors: queralt rosinach n. Stud Health Technol Inform. 2021 May 7;279:144-146. doi: 10.3233/SHTI210101. Stud Health Technol Inform. 2021. PMID: 33965931
Linked Registries: Connecting Rare Diseases Patient Registries through a Semantic Web Layer.
Sernadela P, González-Castro L, Carta C, van der Horst E, Lopes P, Kaliyaperumal R, Thompson M, Thompson R, Queralt-Rosinach N, Lopez E, Wood L, Robertson A, Lamanna C, Gilling M, Orth M, Merino-Martinez R, Posada M, Taruscio D, Lochmüller H, Robinson P, Roos M, Oliveira JL. Sernadela P, et al. Biomed Res Int. 2017;2017:8327980. doi: 10.1155/2017/8327980. Epub 2017 Oct 29. Biomed Res Int. 2017. PMID: 29214177 Free PMC article.
Semantic modelling of common data elements for rare disease registries, and a prototype workflow for their deployment over registry data.
Kaliyaperumal R, Wilkinson MD, Moreno PA, Benis N, Cornet R, Dos Santos Vieira B, Dumontier M, Bernabé CH, Jacobsen A, Le Cornec CMA, Godoy MP, Queralt-Rosinach N, Schultze Kool LJ, Swertz MA, van Damme P, van der Velde KJ, Lalout N, Zhang S, Roos M. Kaliyaperumal R, et al. Among authors: queralt rosinach n. J Biomed Semantics. 2022 Mar 15;13(1):9. doi: 10.1186/s13326-022-00264-6. J Biomed Semantics. 2022. PMID: 35292119 Free PMC article.
BioHackathon 2015: Semantics of data for life sciences and reproducible research.
Vos RA, Katayama T, Mishima H, Kawano S, Kawashima S, Kim JD, Moriya Y, Tokimatsu T, Yamaguchi A, Yamamoto Y, Wu H, Amstutz P, Antezana E, Aoki NP, Arakawa K, Bolleman JT, Bolton E, Bonnal RJP, Bono H, Burger K, Chiba H, Cohen KB, Deutsch EW, Fernández-Breis JT, Fu G, Fujisawa T, Fukushima A, García A, Goto N, Groza T, Hercus C, Hoehndorf R, Itaya K, Juty N, Kawashima T, Kim JH, Kinjo AR, Kotera M, Kozaki K, Kumagai S, Kushida T, Lütteke T, Matsubara M, Miyamoto J, Mohsen A, Mori H, Naito Y, Nakazato T, Nguyen-Xuan J, Nishida K, Nishida N, Nishide H, Ogishima S, Ohta T, Okuda S, Paten B, Perret JL, Prathipati P, Prins P, Queralt-Rosinach N, Shinmachi D, Suzuki S, Tabata T, Takatsuki T, Taylor K, Thompson M, Uchiyama I, Vieira B, Wei CH, Wilkinson M, Yamada I, Yamanaka R, Yoshitake K, Yoshizawa AC, Dumontier M, Kosaki K, Takagi T. Vos RA, et al. Among authors: queralt rosinach n. F1000Res. 2020 Feb 24;9:136. doi: 10.12688/f1000research.18236.1. eCollection 2020. F1000Res. 2020. PMID: 32308977 Free PMC article.
The Semanticscience Integrated Ontology (SIO) for biomedical research and knowledge discovery.
Dumontier M, Baker CJ, Baran J, Callahan A, Chepelev L, Cruz-Toledo J, Del Rio NR, Duck G, Furlong LI, Keath N, Klassen D, McCusker JP, Queralt-Rosinach N, Samwald M, Villanueva-Rosales N, Wilkinson MD, Hoehndorf R. Dumontier M, et al. J Biomed Semantics. 2014 Mar 6;5(1):14. doi: 10.1186/2041-1480-5-14. J Biomed Semantics. 2014. PMID: 24602174 Free PMC article.
Structured reviews for data and knowledge-driven research.
Queralt-Rosinach N, Stupp GS, Li TS, Mayers M, Hoatlin ME, Might M, Good BM, Su AI. Queralt-Rosinach N, et al. Database (Oxford). 2020 Jan 1;2020:baaa015. doi: 10.1093/database/baaa015. Database (Oxford). 2020. PMID: 32283553 Free PMC article.
24 results