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Year Number of Results
1984 2
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1996 1
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1998 1
1999 3
2001 2
2002 3
2003 3
2004 9
2005 6
2006 6
2007 6
2008 5
2009 6
2010 2
2011 7
2012 3
2013 4
2014 7
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2016 23
2017 12
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232 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.
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.
Causes of Death Among Infants and Children in the Child Health and Mortality Prevention Surveillance (CHAMPS) Network.
Bassat Q, Blau DM, Ogbuanu IU, Samura S, Kaluma E, Bassey IA, Sow S, Keita AM, Tapia MD, Mehta A, Kotloff KL, Rahman A, Islam KM, Alam M, El Arifeen S, Gurley ES, Baillie V, Mutevedzi P, Mahtab S, Thwala BN, Tippett Barr BA, Onyango D, Akelo V, Rogena E, Onyango P, Omore R, Mandomando I, Ajanovic S, Varo R, Sitoe A, Duran-Frigola M, Assefa N, Scott JAG, Madrid L, Tesfaye T, Dessie Y, Madewell ZJ, Breiman RF, Whitney CG, Madhi SA; Child Health and Mortality Prevention Surveillance (CHAMPS) Network. Bassat Q, et al. JAMA Netw Open. 2023 Jul 3;6(7):e2322494. doi: 10.1001/jamanetworkopen.2023.22494. JAMA Netw Open. 2023. PMID: 37494044 Free PMC article.
Contrast-enhanced spectral mammography (CESM).
James JJ, Tennant SL. James JJ, et al. Among authors: tennant sl. Clin Radiol. 2018 Aug;73(8):715-723. doi: 10.1016/j.crad.2018.05.005. Epub 2018 Jun 21. Clin Radiol. 2018. PMID: 29937340 Review.
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
Vaccine value profile for Klebsiella pneumoniae.
Dangor Z, Benson N, Berkley JA, Bielicki J, Bijsma MW, Broad J, Buurman ET, Cross A, Duffy EM, Holt KE, Iroh Tam PY, Jit M, Karampatsas K, Katwere M, Kwatra G, Laxminarayan R, Le Doare K, Mboizi R, Micoli F, Moore CE, Nakabembe E, Naylor NR, O'Brien S, Olwagen C, Reddy D, Rodrigues C, Rosen DA, Sadarangani M, Srikantiah P, Tennant SM, Hasso-Agopsowicz M, Madhi SA. Dangor Z, et al. Among authors: tennant sm. Vaccine. 2024 Jul 25;42(19S1):S125-S141. doi: 10.1016/j.vaccine.2024.02.072. Epub 2024 Mar 19. Vaccine. 2024. PMID: 38503661 Free article.
Multimodality imaging of the paediatric flatfoot.
Berkeley R, Tennant S, Saifuddin A. Berkeley R, et al. Among authors: tennant s. Skeletal Radiol. 2021 Nov;50(11):2133-2149. doi: 10.1007/s00256-021-03806-8. Epub 2021 May 17. Skeletal Radiol. 2021. PMID: 34002241 Review.
Thyroglobulin in differentiated thyroid cancer.
Evans C, Tennant S, Perros P. Evans C, et al. Among authors: tennant s. Clin Chim Acta. 2015 Apr 15;444:310-7. doi: 10.1016/j.cca.2014.10.035. Epub 2014 Oct 29. Clin Chim Acta. 2015. PMID: 25444737 Review.
Progress towards the development of Klebsiella vaccines.
Choi M, Tennant SM, Simon R, Cross AS. Choi M, et al. Among authors: tennant sm. Expert Rev Vaccines. 2019 Jul;18(7):681-691. doi: 10.1080/14760584.2019.1635460. Epub 2019 Jun 28. Expert Rev Vaccines. 2019. PMID: 31250679 Free PMC article. Review.
232 results