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Hydroxychloroquine as Postexposure Prophylaxis to Prevent Severe Acute Respiratory Syndrome Coronavirus 2 Infection : A Randomized Trial.
Barnabas RV, Brown ER, Bershteyn A, Stankiewicz Karita HC, Johnston C, Thorpe LE, Kottkamp A, Neuzil KM, Laufer MK, Deming M, Paasche-Orlow MK, Kissinger PJ, Luk A, Paolino K, Landovitz RJ, Hoffman R, Schaafsma TT, Krows ML, Thomas KK, Morrison S, Haugen HS, Kidoguchi L, Wener M, Greninger AL, Huang ML, Jerome KR, Wald A, Celum C, Chu HY, Baeten JM; Hydroxychloroquine COVID-19 PEP Study Team. Barnabas RV, et al. Ann Intern Med. 2021 Mar;174(3):344-352. doi: 10.7326/M20-6519. Epub 2020 Dec 8. Ann Intern Med. 2021. PMID: 33284679 Free PMC article. Clinical Trial.
Risk of Severe Acute Respiratory Syndrome Coronavirus 2 Acquisition Is Associated With Individual Exposure but Not Community-Level Transmission.
Friedman-Klabanoff DJ, Fitzpatrick MC, Deming ME, Agrawal V, Sitar S, Schaafsma T, Brown E, Neuzil KM, Barnabas RV, Laufer MK; Hydroxychloroquine COVID-19 Postexposure Prophylaxis Study Team. Friedman-Klabanoff DJ, et al. J Infect Dis. 2022 Aug 24;226(2):225-235. doi: 10.1093/infdis/jiac029. J Infect Dis. 2022. PMID: 35134185 Free PMC 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
Rare de novo gain-of-function missense variants in DOT1L are associated with developmental delay and congenital anomalies.
Nil Z, Deshwar AR, Huang Y, Barish S, Zhang X, Choufani S, Le Quesne Stabej P, Hayes I, Yap P, Haldeman-Englert C, Wilson C, Prescott T, Tveten K, Vøllo A, Haynes D, Wheeler PG, Zon J, Cytrynbaum C, Jobling R, Blyth M, Banka S, Afenjar A, Mignot C, Robin-Renaldo F, Keren B, Kanca O, Mao X, Wegner DJ, Sisco K, Shinawi M; Undiagnosed Disease Network; Wangler MF, Weksberg R, Yamamoto S, Costain G, Bellen HJ. Nil Z, et al. Among authors: blyth m. Am J Hum Genet. 2023 Nov 2;110(11):1919-1937. doi: 10.1016/j.ajhg.2023.09.009. Epub 2023 Oct 11. Am J Hum Genet. 2023. PMID: 37827158 Free PMC article.
154 results