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2002 1
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48 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.
Vericiguat in Patients with Heart Failure and Reduced Ejection Fraction.
Armstrong PW, Pieske B, Anstrom KJ, Ezekowitz J, Hernandez AF, Butler J, Lam CSP, Ponikowski P, Voors AA, Jia G, McNulty SE, Patel MJ, Roessig L, Koglin J, O'Connor CM; VICTORIA Study Group. Armstrong PW, et al. N Engl J Med. 2020 May 14;382(20):1883-1893. doi: 10.1056/NEJMoa1915928. Epub 2020 Mar 28. N Engl J Med. 2020. PMID: 32222134 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.
Management of Coronary Disease in Patients with Advanced Kidney Disease.
Bangalore S, Maron DJ, O'Brien SM, Fleg JL, Kretov EI, Briguori C, Kaul U, Reynolds HR, Mazurek T, Sidhu MS, Berger JS, Mathew RO, Bockeria O, Broderick S, Pracon R, Herzog CA, Huang Z, Stone GW, Boden WE, Newman JD, Ali ZA, Mark DB, Spertus JA, Alexander KP, Chaitman BR, Chertow GM, Hochman JS; ISCHEMIA-CKD Research Group. Bangalore S, et al. N Engl J Med. 2020 Apr 23;382(17):1608-1618. doi: 10.1056/NEJMoa1915925. Epub 2020 Mar 30. N Engl J Med. 2020. PMID: 32227756 Free PMC article. Clinical Trial.
Efficacy and safety of ciclosporin versus methotrexate in the treatment of severe atopic dermatitis in children and young people (TREAT): a multicentre parallel group assessor-blinded clinical trial.
Flohr C, Rosala-Hallas A, Jones AP, Beattie P, Baron S, Browne F, Brown SJ, Gach JE, Greenblatt D, Hearn R, Hilger E, Esdaile B, Cork MJ, Howard E, Lovgren ML, August S, Ashoor F, Williamson PR, McPherson T, O'Kane D, Ravenscroft J, Shaw L, Sinha MD, Spowart C, Taams LS, Thomas BR, Wan M, Sach TH, Irvine AD; TREAT Trial Investigators. Flohr C, et al. Among authors: howard e. Br J Dermatol. 2023 Nov 16;189(6):674-684. doi: 10.1093/bjd/ljad281. Br J Dermatol. 2023. PMID: 37722926 Free article. Clinical Trial.
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.
Clinical Outcomes and Response to Vericiguat According to Index Heart Failure Event: Insights From the VICTORIA Trial.
Lam CSP, Giczewska A, Sliwa K, Edelmann F, Refsgaard J, Bocchi E, Ezekowitz JA, Hernandez AF, O'Connor CM, Roessig L, Patel MJ, Pieske B, Anstrom KJ, Armstrong PW; VICTORIA Study Group. Lam CSP, et al. JAMA Cardiol. 2021 Jun 1;6(6):706-712. doi: 10.1001/jamacardio.2020.6455. JAMA Cardiol. 2021. PMID: 33185650 Free PMC article. Clinical Trial.
Health Status after Invasive or Conservative Care in Coronary and Advanced Kidney Disease.
Spertus JA, Jones PG, Maron DJ, Mark DB, O'Brien SM, Fleg JL, Reynolds HR, Stone GW, Sidhu MS, Chaitman BR, Chertow GM, Hochman JS, Bangalore S; ISCHEMIA-CKD Research Group. Spertus JA, et al. N Engl J Med. 2020 Apr 23;382(17):1619-1628. doi: 10.1056/NEJMoa1916374. Epub 2020 Mar 30. N Engl J Med. 2020. PMID: 32227754 Free PMC article. Clinical Trial.
The effects of ciclosporin and methotrexate on kidney function in the treatment of severe atopic dermatitis in children: results from the TREAT trial.
Bruce G, Rosala-Hallas A, Jones AP, Turner C, Dalton N, Hilger E, Baron S, Beattie P, Browne F, Brown SJ, Gach JE, Hearn R, Esdaile B, Cork MJ, Howard E, Greenblatt D, August S, Lovgren ML, Ashoor F, McPherson T, O'Kane D, Ravenscroft J, Shaw L, Spowart C, Thomas BR, Sach T, Wan M, Irvine AD, Sinha MD, Flohr C. Bruce G, et al. Among authors: howard e. Br J Dermatol. 2024 Oct 17;191(5):851-852. doi: 10.1093/bjd/ljae276. Br J Dermatol. 2024. PMID: 39009427 Free article. No abstract available.
Rare disease genomic testing in the UK and Ireland: promoting timely and equitable access.
Ellard S, Morgan S, Wynn SL, Walker S, Parrish A, Mein R, Juett A, Ahn JW, Berry I, Cassidy EJ, Durkie M, Fish L, Hall R, Howard E, Rankin J, Wright CF, Deans ZC, Scott RH, Hill SL, Baple EL, Taylor RW; Association for Clinical Genomic Science Rare Disease Position Statement Working Group. Ellard S, et al. Among authors: howard e. J Med Genet. 2024 Nov 25;61(12):1103-1112. doi: 10.1136/jmg-2024-110228. J Med Genet. 2024. PMID: 39327040 Free PMC article.
48 results