Genetics Journal Club: 2020-21

Cohn DM, Viney NJ, Fijen LM, Schneider E, Alexander VJ, Xia S, Kaeser GE, Nanavati C, Baker BF, Geary RS, Levi M, Meijers JCM, Stroes ESG. Antisense Inhibition of Prekallikrein to Control Hereditary Angioedema. N Engl J Med. 2020 Sep 24;383(13):1242-1247. doi: 10.1056/NEJMoa1915035. Epub 2020 Sep 2. PMID: 32877578.

Stanley KE, Giordano J, Thorsten V, Buchovecky C, Thomas A, Ganapathi M, Liao J, Dharmadhikari AV, Revah-Politi A, Ernst M, Lippa N, Holmes H, Povysil G, Hostyk J, Parker CB, Goldenberg R, Saade GR, Dudley DJ, Pinar H, Hogue C, Reddy UM, Silver RM, Aggarwal V, Allen AS, Wapner RJ, Goldstein DB. Causal Genetic Variants in Stillbirth. N Engl J Med. 2020 Sep 17;383(12):1107-1116. doi: 10.1056/NEJMoa1908753. Epub 2020 Aug 12. PMID: 32786180; PMCID: PMC7604888.

Merke DP, Auchus RJ. Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency. N Engl J Med. 2020 Sep 24;383(13):1248-1261. doi: 10.1056/NEJMra1909786. PMID: 32966723.

Wojcik MH. Genomic Insights into Stillbirth. N Engl J Med. 2020 Sep 17;383(12):1182-1183. doi: 10.1056/NEJMe2016410. Epub 2020 Aug 12. PMID: 32786182.

Gudbjartsson DF, Norddahl GL, Melsted P, et al. Humoral Immune Response to SARS-CoV-2 in Iceland. N Engl J Med. 2020 Oct 29;383(18):1724-1734. doi: 10.1056/NEJMoa2026116. Epub 2020 Sep 1. PMID: 32871063; PMCID: PMC7494247.

Vanderver A, Adang L, Gavazzi F, McDonald K, Helman G, Frank DB, Jaffe N, Yum SW, Collins A, Keller SR, Lebon P, Meritet JF, Rhee J, Takanohashi A, Armangue T, Ulrick N, Sherbini O, Koh J, Peer K, Besnier C, Scher C, Boyle K, Dubbs H, Kramer-Golinkoff J, Pizzino A, Woidill S, Shults J. Janus Kinase Inhibition in the Aicardi-Goutières Syndrome. N Engl J Med. 2020 Sep 3;383(10):986-989. doi: 10.1056/NEJMc2001362. PMID: 32877590; PMCID: PMC7495410.

Mantovani A, Netea MG. Trained Innate Immunity, Epigenetics, and Covid-19. N Engl J Med. 2020 Sep 10;383(11):1078-1080. doi: 10.1056/NEJMcibr2011679. PMID: 32905684.

Stanley KE, Giordano J, Thorsten V, et al. Causal Genetic Variants in Stillbirth [published online ahead of print, 2020 Aug 12]. N Engl J Med. 2020;10.1056/NEJMoa1908753. doi:10.1056/NEJMoa1908753

Walker MA, Lareau CA, Ludwig LS, et al. Purifying Selection against Pathogenic Mitochondrial DNA in Human T Cells [published online ahead of print, 2020 Aug 12]. N Engl J Med. 2020;10.1056/NEJMoa2001265. doi:10.1056/NEJMoa2001265

Baudou E, Lespine A, Durrieu G, et al. Serious Ivermectin Toxicity and Human ABCB1 Nonsense Mutations. N Engl J Med. 2020;383(8):787-789. doi:10.1056/NEJMc1917344

Wojcik MH. Genomic Insights into Stillbirth [published online ahead of print, 2020 Aug 12]. N Engl J Med. 2020;10.1056/NEJMe2016410. doi:10.1056/NEJMe2016410

O'Driscoll L. When E-Cadherin Becomes Unstuck in Cancer. N Engl J Med. 2020;383(9):871-873. doi:10.1056/NEJMcibr2018713

Hughley, R., Karlic, R., Joshi, H., Turnbull, C., Foulkes, W. D., & Polak, P. (2020). Etiologic Index—A Case-Only Measure of BRCA1/2–Associated Cancer Risk. New England Journal of Medicine, 383(3), 286-288.

Martin, C. L., Wain, K. E., Oetjens, M. T., Tolwinski, K., Palen, E., Hare-Harris, A., ... & Myers, S. M. (2020). Identification of Neuropsychiatric Copy Number Variants in a Health Care System Population. JAMA psychiatry.

van der Made, C. I., Simons, A., Schuurs-Hoeijmakers, J., van den Heuvel, G., Mantere, T., Kersten, S., ... & Hofste, T. (2020). Presence of Genetic Variants Among Young Men With Severe COVID-19. JAMA.

Ospina, M. L., Tong, V. T., Gonzalez, M., Valencia, D., Mercado, M., Gilboa, S. M., ... & Pardo, L. (2020). Zika Virus Disease and Pregnancy Outcomes in Colombia. New England Journal of Medicine, 383(6), 537-545.

Orange, D. E., Yao, V., Sawicka, K., Fak, J., Frank, M. O., Parveen, S., ... & Troyanskaya, O. G. (2020). RNA Identification of PRIME Cells Predicting Rheumatoid Arthritis Flares. New England Journal of Medicine, 383(3), 218-228.

Madjunkova S, Sundaravadanam Y, Antes R, et al. Detection of Structural Rearrangements in Embryos. N Engl J Med. 2020;382(25):2472-2474. doi:10.1056/NEJMc1913370

Gonzalez-Aseguinolaza G. Givosiran - Running RNA Interference to Fight Porphyria Attacks. N Engl J Med. 2020;382(24):2366-2367. doi:10.1056/NEJMe2010986

Parks JM, Smith JC. How to Discover Antiviral Drugs Quickly. N Engl J Med. 2020;382(23):2261-2264. doi:10.1056/NEJMcibr2007042

John CC, Opoka RO, Latham TS, et al. Hydroxyurea Dose Escalation for Sickle Cell Anemia in Sub-Saharan Africa. N Engl J Med. 2020;382(26):2524-2533. doi:10.1056/NEJMoa2000146

Balwani M, Sardh E, Ventura P, et al. Phase 3 Trial of RNAi Therapeutic Givosiran for Acute Intermittent Porphyria. N Engl J Med. 2020;382(24):2289-2301. doi:10.1056/NEJMoa1913147

Oh JK, Tsang SH. Stargardt Juvenile Macular Degeneration. N Engl J Med. 2020;382(24):2353. doi:10.1056/NEJMicm1913388

Lee YR, Yehia L, Kishikawa T, et al. WWP1 Gain-of-Function Inactivation of PTEN in Cancer Predisposition. N Engl J Med. 2020;382(22):2103-2116. doi:10.1056/NEJMoa1914919