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Year Number of Results
1964 1
1965 1
1966 1
1970 1
1972 1
1976 1
1977 2
1990 1
1991 2
1992 1
1993 1
1995 1
1997 1
1999 4
2000 3
2001 4
2002 3
2003 5
2004 3
2005 6
2006 4
2007 3
2008 6
2009 4
2010 2
2011 8
2012 5
2013 8
2014 5
2015 5
2016 3
2017 10
2018 14
2019 12
2020 7
2021 16
2022 23
2023 22
2024 18
2025 10

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189 results

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Page 1
Evidence for 28 genetic disorders discovered by combining healthcare and research data.
Kaplanis J, Samocha KE, Wiel L, Zhang Z, Arvai KJ, Eberhardt RY, Gallone G, Lelieveld SH, Martin HC, McRae JF, Short PJ, Torene RI, de Boer E, Danecek P, Gardner EJ, Huang N, Lord J, Martincorena I, Pfundt R, Reijnders MRF, Yeung A, Yntema HG; Deciphering Developmental Disorders Study; Vissers LELM, Juusola J, Wright CF, Brunner HG, Firth HV, FitzPatrick DR, Barrett JC, Hurles ME, Gilissen C, Retterer K. Kaplanis J, et al. Nature. 2020 Oct;586(7831):757-762. doi: 10.1038/s41586-020-2832-5. Epub 2020 Oct 14. Nature. 2020. PMID: 33057194 Free PMC article.
Exercise interventions for cerebral palsy.
Ryan JM, Cassidy EE, Noorduyn SG, O'Connell NE. Ryan JM, et al. Among authors: cassidy ee. Cochrane Database Syst Rev. 2017 Jun 11;6(6):CD011660. doi: 10.1002/14651858.CD011660.pub2. Cochrane Database Syst Rev. 2017. PMID: 28602046 Free PMC article.
The contribution of X-linked coding variation to severe developmental disorders.
Martin HC, Gardner EJ, Samocha KE, Kaplanis J, Akawi N, Sifrim A, Eberhardt RY, Tavares ALT, Neville MDC, Niemi MEK, Gallone G, McRae J; Deciphering Developmental Disorders Study; Wright CF, FitzPatrick DR, Firth HV, Hurles ME. Martin HC, et al. Nat Commun. 2021 Jan 27;12(1):627. doi: 10.1038/s41467-020-20852-3. Nat Commun. 2021. PMID: 33504798 Free PMC article.
Severe delayed hypersensitivity reactions to IL-1 and IL-6 inhibitors link to common HLA-DRB1*15 alleles.
Saper VE, Ombrello MJ, Tremoulet AH, Montero-Martin G, Prahalad S, Canna S, Shimizu C, Deutsch G, Tan SY, Remmers EF, Monos D, Hahn T, Phadke OK, Cassidy E, Ferguson I, Mallajosyula V, Xu J, Rosa Duque JS, Chua GT, Ghosh D, Szymanski AM, Rubin D, Burns JC, Tian L, Fernandez-Vina MA, Mellins ED, Hollenbach JA; Drug Hypersensitivity Consortium; INCHARGE Consortium. Saper VE, et al. Among authors: cassidy e. Ann Rheum Dis. 2022 Mar;81(3):406-415. doi: 10.1136/annrheumdis-2021-220578. Epub 2021 Nov 17. Ann Rheum Dis. 2022. PMID: 34789453 Free PMC article.
Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections.
Jeffries L, Mis EK, McWalter K, Donkervoort S, Brodsky NN, Carpier JM, Ji W, Ionita C, Roy B, Morrow JS, Darbinyan A, Iyer K, Aul RB, Banka S, Chao KR, Cobbold L, Cohen S, Custodio HM, Drummond-Borg M, Elmslie F, Finanger E, Hainline BE, Helbig I, Hewson S, Hu Y, Jackson A, Josifova D, Konstantino M, Leach ME, Mak B, McCormick D, McGee E, Nelson S, Nguyen J, Nugent K, Ortega L, Goodkin HP, Roeder E, Roy S, Sapp K, Saade D, Sisodiya SM, Stals K, Towner S, Wilson W; Deciphering Developmental Disorders; Genomics England Research Consortium; Undiagnosed Disease Network; Khokha MK, Bönnemann CG, Lucas CL, Lakhani SA. Jeffries L, et al. Genet Med. 2024 Feb;26(2):101023. doi: 10.1016/j.gim.2023.101023. Epub 2023 Nov 7. Genet Med. 2024. PMID: 37947183 Free PMC article.
The Toxicology Investigators Consortium 2023 Annual Report.
Hughes A, Amaducci A, Campleman SL, Li S, Costantini M, Spyres MB, Spungen H, Kent J, Falise A, Culbreth R, Wax PM, Brent J, Aldy K; Toxicology Investigators Consortium Study Group. Hughes A, et al. J Med Toxicol. 2024 Oct;20(4):350-380. doi: 10.1007/s13181-024-01033-w. Epub 2024 Sep 10. J Med Toxicol. 2024. PMID: 39256327
Interleukin (IL)-1/IL-6-Inhibitor-Associated Drug Reaction With Eosinophilia and Systemic Symptoms (DReSS) in Systemic Inflammatory Illnesses.
Saper VE, Tian L, Verstegen RHJ, Conrad CK, Cidon M, Hopper RK, Kuo CS, Osoegawa K, Baszis K, Bingham CA, Ferguson I, Hahn T, Horne A, Isupova EA, Jones JT, Kasapcopur Ö, Klein-Gitelman MS, Kostik MM, Ozen S, Phadke O, Prahalad S, Randell RL, Sener S, Stingl C, Abdul-Aziz R, Akoghlanian S, Al Julandani D, Alvarez MB, Bader-Meunier B, Balay-Dustrude EE, Balboni I, Baxter SK, Berard RA, Bhattad S, Bolaria R, Boneparth A, Cassidy EA, Co DO, Collins KP, Dancey P, Dickinson AM, Edelheit BS, Espada G, Flanagan ER, Imundo LF, Jindal AK, Kim HA, Klaus G, Lake C, Lapin WB, Lawson EF, Marmor I, Mombourquette J, Ogunjimi B, Olveda R, Ombrello MJ, Onel K, Poholek C, Ramanan AV, Ravelli A, Reinhardt A, Robinson AD, Rouster-Stevens K, Saad N, Schneider R, Selmanovic V, Sefic Pasic I, Shenoi S, Shilo NR, Soep JB, Sura A, Taber SF, Tesher M, Tibaldi J, Torok KS, Tsin CM, Vasquez-Canizares N, Villacis Nunez DS, Way EE, Whitehead B, Zemel LS, Sharma S, Fernández-Viña MA, Mellins ED; CARRA Registry Investigators. Saper VE, et al. Among authors: cassidy ea. J Allergy Clin Immunol Pract. 2024 Nov;12(11):2996-3013.e7. doi: 10.1016/j.jaip.2024.07.002. Epub 2024 Aug 15. J Allergy Clin Immunol Pract. 2024. PMID: 39002722
Implementation study of the CARRA Uveitis Consensus Treatment Plans: feasibility for clinical practice and applicability for research.
Chang MH, Barbar-Smiley F, Akoghlanian S, Drew J, Angeles-Han ST, Quinlan-Waters M, Bohnsack JF, Cooper AM, Edelheit B, Twachtman-Bassett J, Lerman MA, Nanda K, Rabinovich CE, Lo MS; CARRA Uveitis Workgroup and the CARRA Registry Investigators. Chang MH, et al. Pediatr Rheumatol Online J. 2024 Oct 7;22(1):88. doi: 10.1186/s12969-024-01022-x. Pediatr Rheumatol Online J. 2024. PMID: 39375683 Free PMC article.
189 results