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

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 5

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170 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. Review.
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.
The Toxicology Investigators Consortium 2022 Annual Report.
Amaducci AM, Campleman SL, Li S, Karshenas DL, Spyres MB, Farrugia LA, Kang AM, Culbreth RE, Wax PM, Brent J, Aldy K; Toxicology Investigators Consortium Study Group. Amaducci AM, et al. J Med Toxicol. 2023 Oct;19(4):313-340. doi: 10.1007/s13181-023-00962-2. Epub 2023 Aug 29. J Med Toxicol. 2023. PMID: 37644342
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.
Real-time suicide surveillance supporting policy and practice.
Benson R, Brunsdon C, Rigby J, Corcoran P, Ryan M, Cassidy E, Dodd P, Hennebry D, Arensman E. Benson R, et al. Among authors: cassidy e. Glob Ment Health (Camb). 2022 Aug 12;9:384-388. doi: 10.1017/gmh.2022.42. eCollection 2022. Glob Ment Health (Camb). 2022. PMID: 36618746 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
170 results