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Year Number of Results
1998 1
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2002 4
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2007 1
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2012 4
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133 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.
Long-term safety and efficacy of risankizumab for the treatment of moderate-to-severe plaque psoriasis: Interim analysis of the LIMMitless open-label extension trial up to 5 years of follow-up.
Papp KA, Blauvelt A, Puig L, Ohtsuki M, Beissert S, Gooderham M, Amin AZ, Liu J, Wu T, Azam T, Stakias V, Espaillat R, Sinvhal R, Soliman AM, Pang Y, Chen MM, Lebwohl MG. Papp KA, et al. Among authors: azam t. J Am Acad Dermatol. 2023 Dec;89(6):1149-1158. doi: 10.1016/j.jaad.2023.07.1024. Epub 2023 Aug 6. J Am Acad Dermatol. 2023. PMID: 37553030 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.
Association Between Early Treatment With Tocilizumab and Mortality Among Critically Ill Patients With COVID-19.
Gupta S, Wang W, Hayek SS, Chan L, Mathews KS, Melamed ML, Brenner SK, Leonberg-Yoo A, Schenck EJ, Radbel J, Reiser J, Bansal A, Srivastava A, Zhou Y, Finkel D, Green A, Mallappallil M, Faugno AJ, Zhang J, Velez JCQ, Shaefi S, Parikh CR, Charytan DM, Athavale AM, Friedman AN, Redfern RE, Short SAP, Correa S, Pokharel KK, Admon AJ, Donnelly JP, Gershengorn HB, Douin DJ, Semler MW, Hernán MA, Leaf DE; STOP-COVID Investigators. Gupta S, et al. JAMA Intern Med. 2021 Jan 1;181(1):41-51. doi: 10.1001/jamainternmed.2020.6252. JAMA Intern Med. 2021. PMID: 33080002 Free PMC article.
IL-38 regulates intestinal stem cell homeostasis by inducing WNT signaling and beneficial IL-1β secretion.
Dinarello A, May M, Amo-Aparicio J, Azam T, Gaballa JM, Marchetti C, Tesoriere A, Ghirardo R, Redzic JS, Webber WS 3rd, Atif SM, Li S, Eisenmesser EZ, de Graaf DM, Dinarello CA. Dinarello A, et al. Among authors: azam t. Proc Natl Acad Sci U S A. 2023 Nov 7;120(45):e2306476120. doi: 10.1073/pnas.2306476120. Epub 2023 Oct 31. Proc Natl Acad Sci U S A. 2023. PMID: 37906644 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
133 results