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Year Number of Results
1984 2
1986 3
1987 3
1988 1
1989 5
1990 1
1991 4
1992 2
1993 2
1994 3
1995 5
1996 1
1997 3
1998 3
1999 2
2000 2
2001 3
2002 1
2003 9
2004 6
2005 8
2006 4
2007 4
2008 2
2009 3
2010 2
2011 2
2012 6
2013 4
2014 12
2015 6
2016 3
2017 9
2018 7
2019 10
2020 11
2021 7
2022 9
2023 6
2024 10

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168 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.
Adjunctive Glucocorticoid Therapy in Patients with Septic Shock.
Venkatesh B, Finfer S, Cohen J, Rajbhandari D, Arabi Y, Bellomo R, Billot L, Correa M, Glass P, Harward M, Joyce C, Li Q, McArthur C, Perner A, Rhodes A, Thompson K, Webb S, Myburgh J; ADRENAL Trial Investigators and the Australian–New Zealand Intensive Care Society Clinical Trials Group. Venkatesh B, et al. N Engl J Med. 2018 Mar 1;378(9):797-808. doi: 10.1056/NEJMoa1705835. Epub 2018 Jan 19. N Engl J Med. 2018. PMID: 29347874 Free article. Clinical Trial.
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.
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
Pelvic masses.
Barney SP, Muller CY, Bradshaw KD. Barney SP, et al. Among authors: bradshaw kd. Med Clin North Am. 2008 Sep;92(5):1143-61, xi. doi: 10.1016/j.mcna.2008.04.007. Med Clin North Am. 2008. PMID: 18721656 Review.
Delayed puberty and amenorrhea.
Hoffman B, Bradshaw KD. Hoffman B, et al. Among authors: bradshaw kd. Semin Reprod Med. 2003 Nov;21(4):353-62. doi: 10.1055/s-2004-815591. Semin Reprod Med. 2003. PMID: 14724768 Review.
Skeletal Aspects of Non-Accidental Injury.
Johnson K, Bradshaw K. Johnson K, et al. Among authors: bradshaw k. Endocr Dev. 2015;28:247-258. doi: 10.1159/000381049. Epub 2015 Jun 12. Endocr Dev. 2015. PMID: 26138846 Review.
Treatment of substance use disorders in schizophrenia.
Bennett ME, Bradshaw KR, Catalano LT. Bennett ME, et al. Among authors: bradshaw kr. Am J Drug Alcohol Abuse. 2017 Jul;43(4):377-390. doi: 10.1080/00952990.2016.1200592. Epub 2016 Aug 9. Am J Drug Alcohol Abuse. 2017. PMID: 27715317 Review.
Correlates of Risk for Disinhibited Behaviors in the Million Veteran Program Cohort.
Barr PB, Bigdeli TB, Meyers JL, Peterson RE, Sanchez-Roige S, Mallard TT, Dick DM, Harden KP, Wilkinson A, Graham DP, Nielsen DA, Swann AC, Lipsky RK, Kosten TR, Aslan M, Harvey PD, Kimbrel NA, Beckham JC; Million Veteran Program (MVP)Cooperative Studies Program (CSP) #572. Barr PB, et al. JAMA Psychiatry. 2024 Feb 1;81(2):188-197. doi: 10.1001/jamapsychiatry.2023.4141. JAMA Psychiatry. 2024. PMID: 37938835 Free PMC article.
168 results