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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1966 1
1967 1
1968 1
1973 1
1974 1
1975 5
1976 1
1983 2
1984 4
1985 2
1986 2
1992 1
1999 2
2002 3
2004 3
2005 2
2006 2
2007 7
2008 6
2009 4
2010 2
2011 2
2012 2
2013 2
2014 2
2015 3
2016 11
2017 7
2018 4
2019 6
2020 5
2021 13
2022 21
2023 17
2024 3

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141 results

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Page 1
How many rare diseases are there?
Haendel M, Vasilevsky N, Unni D, Bologa C, Harris N, Rehm H, Hamosh A, Baynam G, Groza T, McMurry J, Dawkins H, Rath A, Thaxton C, Bocci G, Joachimiak MP, Köhler S, Robinson PN, Mungall C, Oprea TI. Haendel M, et al. Among authors: mcmurry j. Nat Rev Drug Discov. 2020 Feb;19(2):77-78. doi: 10.1038/d41573-019-00180-y. Nat Rev Drug Discov. 2020. PMID: 32020066 Free PMC article.
The Human Phenotype Ontology in 2021.
Köhler S, Gargano M, Matentzoglu N, Carmody LC, Lewis-Smith D, Vasilevsky NA, Danis D, Balagura G, Baynam G, Brower AM, Callahan TJ, Chute CG, Est JL, Galer PD, Ganesan S, Griese M, Haimel M, Pazmandi J, Hanauer M, Harris NL, Hartnett MJ, Hastreiter M, Hauck F, He Y, Jeske T, Kearney H, Kindle G, Klein C, Knoflach K, Krause R, Lagorce D, McMurry JA, Miller JA, Munoz-Torres MC, Peters RL, Rapp CK, Rath AM, Rind SA, Rosenberg AZ, Segal MM, Seidel MG, Smedley D, Talmy T, Thomas Y, Wiafe SA, Xian J, Yüksel Z, Helbig I, Mungall CJ, Haendel MA, Robinson PN. Köhler S, et al. Among authors: mcmurry ja. Nucleic Acids Res. 2021 Jan 8;49(D1):D1207-D1217. doi: 10.1093/nar/gkaa1043. Nucleic Acids Res. 2021. PMID: 33264411 Free PMC article.
Folic Acid.
Merrell BJ, McMurry JP. Merrell BJ, et al. Among authors: mcmurry jp. 2023 Aug 8. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2024 Jan–. 2023 Aug 8. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2024 Jan–. PMID: 32119374 Free Books & Documents.
Risk factors associated with post-acute sequelae of SARS-CoV-2: an N3C and NIH RECOVER study.
Hill EL, Mehta HB, Sharma S, Mane K, Singh SK, Xie C, Cathey E, Loomba J, Russell S, Spratt H, DeWitt PE, Ammar N, Madlock-Brown C, Brown D, McMurry JA, Chute CG, Haendel MA, Moffitt R, Pfaff ER, Bennett TD; N3C Consortium; and the RECOVER Consortium. Hill EL, et al. Among authors: mcmurry ja. BMC Public Health. 2023 Oct 25;23(1):2103. doi: 10.1186/s12889-023-16916-w. BMC Public Health. 2023. PMID: 37880596 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: mcmurry ja. 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 Human Phenotype Ontology in 2017.
Köhler S, Vasilevsky NA, Engelstad M, Foster E, McMurry J, Aymé S, Baynam G, Bello SM, Boerkoel CF, Boycott KM, Brudno M, Buske OJ, Chinnery PF, Cipriani V, Connell LE, Dawkins HJ, DeMare LE, Devereau AD, de Vries BB, Firth HV, Freson K, Greene D, Hamosh A, Helbig I, Hum C, Jähn JA, James R, Krause R, F Laulederkind SJ, Lochmüller H, Lyon GJ, Ogishima S, Olry A, Ouwehand WH, Pontikos N, Rath A, Schaefer F, Scott RH, Segal M, Sergouniotis PI, Sever R, Smith CL, Straub V, Thompson R, Turner C, Turro E, Veltman MW, Vulliamy T, Yu J, von Ziegenweidt J, Zankl A, Züchner S, Zemojtel T, Jacobsen JO, Groza T, Smedley D, Mungall CJ, Haendel M, Robinson PN. Köhler S, et al. Among authors: mcmurry j. Nucleic Acids Res. 2017 Jan 4;45(D1):D865-D876. doi: 10.1093/nar/gkw1039. Epub 2016 Nov 28. Nucleic Acids Res. 2017. PMID: 27899602 Free PMC article. Review.
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: mcmurry ja. 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.
GA4GH Phenopackets: A Practical Introduction.
Ladewig MS, Jacobsen JOB, Wagner AH, Danis D, El Kassaby B, Gargano M, Groza T, Baudis M, Steinhaus R, Seelow D, Bechrakis NE, Mungall CJ, Schofield PN, Elemento O, Smith L, McMurry JA, Munoz-Torres M, Haendel MA, Robinson PN. Ladewig MS, et al. Among authors: mcmurry ja. Adv Genet (Hoboken). 2022 Aug 25;4(1):2200016. doi: 10.1002/ggn2.202200016. eCollection 2023 Mar. Adv Genet (Hoboken). 2022. PMID: 36910590 Free PMC article.
Coding long COVID: characterizing a new disease through an ICD-10 lens.
Pfaff ER, Madlock-Brown C, Baratta JM, Bhatia A, Davis H, Girvin A, Hill E, Kelly E, Kostka K, Loomba J, McMurry JA, Wong R, Bennett TD, Moffitt R, Chute CG, Haendel M; N3C Consortium; RECOVER Consortium. Pfaff ER, et al. Among authors: mcmurry ja. BMC Med. 2023 Feb 16;21(1):58. doi: 10.1186/s12916-023-02737-6. BMC Med. 2023. PMID: 36793086 Free PMC article.
Long COVID risk and pre-COVID vaccination in an EHR-based cohort study from the RECOVER program.
Brannock MD, Chew RF, Preiss AJ, Hadley EC, Redfield S, McMurry JA, Leese PJ, Girvin AT, Crosskey M, Zhou AG, Moffitt RA, Funk MJ, Pfaff ER, Haendel MA, Chute CG; N3C; RECOVER Consortia. Brannock MD, et al. Among authors: mcmurry ja. Nat Commun. 2023 May 22;14(1):2914. doi: 10.1038/s41467-023-38388-7. Nat Commun. 2023. PMID: 37217471 Free PMC article.
141 results