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The case for open science: rare diseases.
Rubinstein YR, Robinson PN, Gahl WA, Avillach P, Baynam G, Cederroth H, Goodwin RM, Groft SC, Hansson MG, Harris NL, Huser V, Mascalzoni D, McMurry JA, Might M, Nellaker C, Mons B, Paltoo DN, Pevsner J, Posada M, Rockett-Frase AP, Roos M, Rubinstein TB, Taruscio D, van Enckevort E, Haendel MA. Rubinstein YR, et al. Among authors: avillach p. JAMIA Open. 2020 Sep 11;3(3):472-486. doi: 10.1093/jamiaopen/ooaa030. eCollection 2020 Oct. JAMIA Open. 2020. PMID: 33426479 Free PMC article. Review.
Major regional disparities in outcomes after sudden cardiac arrest during sports.
Marijon E, Bougouin W, Celermajer DS, Perier MC, Benameur N, Lamhaut L, Karam N, Dumas F, Tafflet M, Prugger C, Mustafic H, Rifler JP, Desnos M, Le Heuzey JY, Spaulding CM, Avillach P, Cariou A, Empana JP, Jouven X. Marijon E, et al. Among authors: avillach p. Eur Heart J. 2013 Dec;34(47):3632-40. doi: 10.1093/eurheartj/eht282. Epub 2013 Aug 4. Eur Heart J. 2013. PMID: 23918760
Interoperability issues regarding patient identification in Europe.
Quantin C, Allaert F, Fassa M, Avillach P, Fieschi M, Cohen O. Quantin C, et al. Among authors: avillach p. Annu Int Conf IEEE Eng Med Biol Soc. 2007;2007:6161. doi: 10.1109/IEMBS.2007.4353760. Annu Int Conf IEEE Eng Med Biol Soc. 2007. PMID: 18003426 No abstract available.
Characteristics and outcomes of sudden cardiac arrest during sports in women.
Marijon E, Bougouin W, Celermajer DS, Périer MC, Dumas F, Benameur N, Karam N, Lamhaut L, Tafflet M, Mustafic H, de Deus NM, Le Heuzey JY, Desnos M, Avillach P, Spaulding C, Cariou A, Prugger C, Empana JP, Jouven X. Marijon E, et al. Among authors: avillach p. Circ Arrhythm Electrophysiol. 2013 Dec;6(6):1185-91. doi: 10.1161/CIRCEP.113.000651. Epub 2013 Nov 4. Circ Arrhythm Electrophysiol. 2013. PMID: 24190898
Finding commonalities in rare diseases through the undiagnosed diseases network.
Yates J, Gutiérrez-Sacristán A, Jouhet V, LeBlanc K, Esteves C; Undiagnosed Diseases Network; DeSain TN, Benik N, Stedman J, Palmer N, Mellon G, Kohane I, Avillach P. Yates J, et al. Among authors: avillach p. J Am Med Inform Assoc. 2021 Jul 30;28(8):1694-1702. doi: 10.1093/jamia/ocab050. J Am Med Inform Assoc. 2021. PMID: 34009343 Free PMC 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. Among authors: avillach p. Nucleic Acids Res. 2024 Jan 5;52(D1):D1333-D1346. doi: 10.1093/nar/gkad1005. Nucleic Acids Res. 2024. PMID: 37953324 Free PMC article.
FAIRshake: Toolkit to Evaluate the FAIRness of Research Digital Resources.
Clarke DJB, Wang L, Jones A, Wojciechowicz ML, Torre D, Jagodnik KM, Jenkins SL, McQuilton P, Flamholz Z, Silverstein MC, Schilder BM, Robasky K, Castillo C, Idaszak R, Ahalt SC, Williams J, Schurer S, Cooper DJ, de Miranda Azevedo R, Klenk JA, Haendel MA, Nedzel J, Avillach P, Shimoyama ME, Harris RM, Gamble M, Poten R, Charbonneau AL, Larkin J, Brown CT, Bonazzi VR, Dumontier MJ, Sansone SA, Ma'ayan A. Clarke DJB, et al. Among authors: avillach p. Cell Syst. 2019 Nov 27;9(5):417-421. doi: 10.1016/j.cels.2019.09.011. Epub 2019 Oct 30. Cell Syst. 2019. PMID: 31677972 Free PMC article.
117 results