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2015 3
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Page 1
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. Stud Health Technol Inform. 2021 May 7;279:144-146. doi: 10.3233/SHTI210101. Stud Health Technol Inform. 2021. PMID: 33965931
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: kaliyaperumal r. 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.
The Implicitome: A Resource for Rationalizing Gene-Disease Associations.
Hettne KM, Thompson M, van Haagen HH, van der Horst E, Kaliyaperumal R, Mina E, Tatum Z, Laros JF, van Mulligen EM, Schuemie M, Aten E, Li TS, Bruskiewich R, Good BM, Su AI, Kors JA, den Dunnen J, van Ommen GJ, Roos M, 't Hoen PA, Mons B, Schultes EA. Hettne KM, et al. Among authors: kaliyaperumal r. PLoS One. 2016 Feb 26;11(2):e0149621. doi: 10.1371/journal.pone.0149621. eCollection 2016. PLoS One. 2016. PMID: 26919047 Free PMC article.
Applying the FAIR principles to data in a hospital: challenges and opportunities in a pandemic.
Queralt-Rosinach N, Kaliyaperumal R, Bernabé CH, Long Q, Joosten SA, van der Wijk HJ, Flikkenschild ELA, Burger K, Jacobsen A, Mons B, Roos M; BEAT-COVID Group; COVID-19 LUMC Group. Queralt-Rosinach N, et al. Among authors: kaliyaperumal r. J Biomed Semantics. 2022 Apr 25;13(1):12. doi: 10.1186/s13326-022-00263-7. J Biomed Semantics. 2022. PMID: 35468846 Free PMC article.
The RD-Connect Genome-Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases.
Laurie S, Piscia D, Matalonga L, Corvó A, Fernández-Callejo M, Garcia-Linares C, Hernandez-Ferrer C, Luengo C, Martínez I, Papakonstantinou A, Picó-Amador D, Protasio J, Thompson R, Tonda R, Bayés M, Bullich G, Camps-Puchadas J, Paramonov I, Trotta JR, Alonso A, Attimonelli M, Béroud C, Bros-Facer V, Buske OJ, Cañada-Pallarés A, Fernández JM, Hansson MG, Horvath R, Jacobsen JOB, Kaliyaperumal R, Lair-Préterre S, Licata L, Lopes P, López-Martín E, Mascalzoni D, Monaco L, Pérez-Jurado LA, Posada de la Paz M, Rambla J, Rath A, Riess O, Robinson PN, Salgado D, Smedley D, Spalding D, 't Hoen PAC, Töpf A, Zaharieva I, Graessner H, Gut IG, Lochmüller H, Beltran S. Laurie S, et al. Among authors: kaliyaperumal r. Hum Mutat. 2022 Jun;43(6):717-733. doi: 10.1002/humu.24353. Hum Mutat. 2022. PMID: 35178824 Free PMC article.
Applying the FAIR Data Principles to the Registry of Vascular Anomalies (VASCA).
Dos Santos Vieira B, Groenen K, 't Hoen PAC, Jacobsen A, Roos M, Kaliyaperumal R, Kersloot M, Cornet R, Schultze Kool L. Dos Santos Vieira B, et al. Among authors: kaliyaperumal r. Stud Health Technol Inform. 2020 Jun 23;271:115-116. doi: 10.3233/SHTI200085. Stud Health Technol Inform. 2020. PMID: 32578552
Gateways to the FANTOM5 promoter level mammalian expression atlas.
Lizio M, Harshbarger J, Shimoji H, Severin J, Kasukawa T, Sahin S, Abugessaisa I, Fukuda S, Hori F, Ishikawa-Kato S, Mungall CJ, Arner E, Baillie JK, Bertin N, Bono H, de Hoon M, Diehl AD, Dimont E, Freeman TC, Fujieda K, Hide W, Kaliyaperumal R, Katayama T, Lassmann T, Meehan TF, Nishikata K, Ono H, Rehli M, Sandelin A, Schultes EA, 't Hoen PA, Tatum Z, Thompson M, Toyoda T, Wright DW, Daub CO, Itoh M, Carninci P, Hayashizaki Y, Forrest AR, Kawaji H; FANTOM consortium. Lizio M, et al. Among authors: kaliyaperumal r. Genome Biol. 2015 Jan 5;16(1):22. doi: 10.1186/s13059-014-0560-6. Genome Biol. 2015. PMID: 25723102 Free PMC article.
The de novo FAIRification process of a registry for vascular anomalies.
Groenen KHJ, Jacobsen A, Kersloot MG, Dos Santos Vieira B, van Enckevort E, Kaliyaperumal R, Arts DL, 't Hoen PAC, Cornet R, Roos M, Kool LS. Groenen KHJ, et al. Among authors: kaliyaperumal r. Orphanet J Rare Dis. 2021 Sep 4;16(1):376. doi: 10.1186/s13023-021-02004-y. Orphanet J Rare Dis. 2021. PMID: 34481493 Free PMC article.
FAIR Genomes metadata schema promoting Next Generation Sequencing data reuse in Dutch healthcare and research.
van der Velde KJ, Singh G, Kaliyaperumal R, Liao X, de Ridder S, Rebers S, Kerstens HHD, de Andrade F, van Reeuwijk J, De Gruyter FE, Hiltemann S, Ligtvoet M, Weiss MM, van Deutekom HWM, Jansen AML, Stubbs AP, Vissers LELM, Laros JFJ, van Enckevort E, Stemkens D, 't Hoen PAC, Beliën JAM, van Gijn ME, Swertz MA. van der Velde KJ, et al. Among authors: kaliyaperumal r. Sci Data. 2022 Apr 13;9(1):169. doi: 10.1038/s41597-022-01265-x. Sci Data. 2022. PMID: 35418585 Free PMC article.
20 results