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Year Number of Results
2007 4
2008 4
2009 2
2010 2
2011 1
2012 6
2013 10
2014 8
2015 4
2016 4
2017 7
2018 8
2019 10
2020 19
2021 18
2022 13
2023 7
2024 6

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119 results

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Page 1
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.
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.
Clinical phenotypes and outcomes in children with multisystem inflammatory syndrome across SARS-CoV-2 variant eras: a multinational study from the 4CE consortium.
Sperotto F, Gutiérrez-Sacristán A, Makwana S, Li X, Rofeberg VN, Cai T, Bourgeois FT, Omenn GS, Hanauer DA, Sáez C, Bonzel CL, Bucholz E, Dionne A, Elias MD, García-Barrio N, González TG, Issitt RW, Kernan KF, Laird-Gion J, Maidlow SE, Mandl KD, Ahooyi TM, Moraleda C, Morris M, Moshal KL, Pedrera-Jiménez M, Shah MA, South AM, Spiridou A, Taylor DM, Verdy G, Visweswaran S, Wang X, Xia Z, Zachariasse JM; Consortium for Clinical Characterization of COVID-19 by EHR (4CE); Newburger JW, Avillach P. Sperotto F, et al. Among authors: avillach p. EClinicalMedicine. 2023 Sep 14;64:102212. doi: 10.1016/j.eclinm.2023.102212. eCollection 2023 Oct. EClinicalMedicine. 2023. PMID: 37745025 Free PMC article.
Potential pitfalls in the use of real-world data for studying long COVID.
Zhang HG, Honerlaw JP, Maripuri M, Samayamuthu MJ, Beaulieu-Jones BR, Baig HS, L'Yi S, Ho YL, Morris M, Panickan VA, Wang X, Weber GM, Liao KP, Visweswaran S, Tan BWQ, Yuan W, Gehlenborg N, Muralidhar S, Ramoni RB; Consortium for Clinical Characterization of COVID-19 by EHR (4CE); Kohane IS, Xia Z, Cho K, Cai T, Brat GA. Zhang HG, et al. Nat Med. 2023 May;29(5):1040-1043. doi: 10.1038/s41591-023-02274-y. Nat Med. 2023. PMID: 37055567 Free PMC article. No abstract available.
A framework for the investigation of rare genetic disorders in neuropsychiatry.
Sanders SJ, Sahin M, Hostyk J, Thurm A, Jacquemont S, Avillach P, Douard E, Martin CL, Modi ME, Moreno-De-Luca A, Raznahan A, Anticevic A, Dolmetsch R, Feng G, Geschwind DH, Glahn DC, Goldstein DB, Ledbetter DH, Mulle JG, Pasca SP, Samaco R, Sebat J, Pariser A, Lehner T, Gur RE, Bearden CE. Sanders SJ, et al. Among authors: avillach p. Nat Med. 2019 Oct;25(10):1477-1487. doi: 10.1038/s41591-019-0581-5. Epub 2019 Sep 23. Nat Med. 2019. PMID: 31548702 Free PMC article. Review.
Characterization of long COVID temporal sub-phenotypes by distributed representation learning from electronic health record data: a cohort study.
Dagliati A, Strasser ZH, Hossein Abad ZS, Klann JG, Wagholikar KB, Mesa R, Visweswaran S, Morris M, Luo Y, Henderson DW, Samayamuthu MJ, Tan BWQ, Verdy G, Omenn GS, Xia Z, Bellazzi R; Consortium for Clinical Characterization of COVID-19 by EHR (4CE),; Murphy SN, Holmes JH, Estiri H; Consortium for Clinical Characterization of COVID-19 by EHR (4CE). Dagliati A, et al. EClinicalMedicine. 2023 Sep 14;64:102210. doi: 10.1016/j.eclinm.2023.102210. eCollection 2023 Oct. EClinicalMedicine. 2023. PMID: 37745021 Free PMC article.
Long-term kidney function recovery and mortality after COVID-19-associated acute kidney injury: An international multi-centre observational cohort study.
Tan BWL, Tan BWQ, Tan ALM, Schriver ER, Gutiérrez-Sacristán A, Das P, Yuan W, Hutch MR, García Barrio N, Pedrera Jimenez M, Abu-El-Rub N, Morris M, Moal B, Verdy G, Cho K, Ho YL, Patel LP, Dagliati A, Neuraz A, Klann JG, South AM, Visweswaran S, Hanauer DA, Maidlow SE, Liu M, Mowery DL, Batugo A, Makoudjou A, Tippmann P, Zöller D, Brat GA, Luo Y, Avillach P, Bellazzi R, Chiovato L, Malovini A, Tibollo V, Samayamuthu MJ, Serrano Balazote P, Xia Z, Loh NHW, Chiudinelli L, Bonzel CL, Hong C, Zhang HG, Weber GM, Kohane IS, Cai T, Omenn GS, Holmes JH, Ngiam KY; Consortium for Clinical Characterization of COVID-19 by EHR (4CE). Tan BWL, et al. Among authors: avillach p. EClinicalMedicine. 2022 Nov 7;55:101724. doi: 10.1016/j.eclinm.2022.101724. eCollection 2023 Jan. EClinicalMedicine. 2022. PMID: 36381999 Free PMC article.
119 results