Genetics Journal Club: 2020-21

Awad MM, Liu S, Rybkin II, et al. Acquired Resistance to KRASG12C Inhibition in Cancer. N Engl J Med. 2021;384(25):2382-2393. doi:10.1056/NEJMoa2105281

Tutt ANJ, Garber JE, Kaufman B, et al. Adjuvant Olaparib for Patients with BRCA1- or BRCA2-Mutated Breast Cancer. N Engl J Med. 2021;384(25):2394-2405. doi:10.1056/NEJMoa2105215

Rothenberg ME. An Allergic Basis for Abdominal Pain. N Engl J Med. 2021;384(22):2156-2158. doi:10.1056/NEJMcibr2104146

Gillmore JD, Gane E, Taubel J, et al. CRISPR-Cas9 In Vivo Gene Editing for Transthyretin Amyloidosis [published online ahead of print, 2021 Jun 26]. N Engl J Med. 2021;10.1056/NEJMoa2107454. doi:10.1056/NEJMoa2107454

Utarini A, Indriani C, Ahmad RA, et al. Efficacy of Wolbachia-Infected Mosquito Deployments for the Control of Dengue. N Engl J Med. 2021;384(23):2177-2186. doi:10.1056/NEJMoa2030243

Rosen N. Finally, Effective Inhibitors of Mutant KRAS. N Engl J Med. 2021;384(25):2447-2449. doi:10.1056/NEJMe2107884

Shimabukuro TT, Kim SY, Myers TR, et al. Preliminary Findings of mRNA Covid-19 Vaccine Safety in Pregnant Persons. N Engl J Med. 2021;384(24):2273-2282. doi:10.1056/NEJMoa2104983

Owen MJ, Niemi AK, Dimmock DP, et al. Rapid Sequencing-Based Diagnosis of Thiamine Metabolism Dysfunction Syndrome. N Engl J Med. 2021;384(22):2159-2161. doi:10.1056/NEJMc2100365

Kohn DB, Booth C, Shaw KL, et al. Autologous Ex Vivo Lentiviral Gene Therapy for Adenosine Deaminase Deficiency. N Engl J Med. 2021;384(21):2002-2013. doi:10.1056/NEJMoa2027675

Skokowa J. Circumventing Mutation to Nix Neutropenia. N Engl J Med. 2021;384(20):1956-1958. doi:10.1056/NEJMcibr2102952

Mustjoki S, Young NS. Somatic Mutations in "Benign" Disease. N Engl J Med. 2021;384(21):2039-2052. doi:10.1056/NEJMra2101920

Koren D, Sparger KA, Shailam R, Sadow PM. Case 13-2021: A Newborn Girl with a Neck Mass. N Engl J Med. 2021 Apr 29;384(17):1647-1655. doi: 10.1056/NEJMcpc2100277. PMID: 33913642.

Kim JS, Eriksson M. Base Editing in Progeria. N Engl J Med. 2021 Apr 8;384(14):1364-1366. doi: 10.1056/NEJMcibr2100661. PMID: 33826825.

Garrelfs SF, Frishberg Y, Hulton SA, Koren MJ, O'Riordan WD, Cochat P, Deschênes G, Shasha-Lavsky H, Saland JM, Van't Hoff WG, Fuster DG, Magen D, Moochhala SH, Schalk G, Simkova E, Groothoff JW, Sas DJ, Meliambro KA, Lu J, Sweetser MT, Garg PP, Vaishnaw AK, Gansner JM, McGregor TL, Lieske JC; ILLUMINATE-A Collaborators. Lumasiran, an RNAi Therapeutic for Primary Hyperoxaluria Type 1. N Engl J Med. 2021 Apr 1;384(13):1216-1226. doi: 10.1056/NEJMoa2021712. PMID: 33789010.

Klein B, Treudler R. Palmoplantar Papules. N Engl J Med. 2021 Apr 15;384(15):1447. doi: 10.1056/NEJMicm2032907. PMID: 33852782.

Sasisekharan R. Preparing for the Future - Nanobodies for Covid-19? N Engl J Med. 2021 Apr 22;384(16):1568-1571. doi: 10.1056/NEJMcibr2101205. Epub 2021 Apr 7. PMID: 33826817.

Carlson ML, Link MJ. Vestibular Schwannomas. N Engl J Med. 2021 Apr 8;384(14):1335-1348. doi: 10.1056/NEJMra2020394. PMID: 33826821.

Oni-Orisan A, Mavura Y, Banda Y, Thornton TA, Sebro R. Embracing Genetic Diversity to Improve Black Health. N Engl J Med. 2021 Mar 25;384(12):1163-1167. doi: 10.1056/NEJMms2031080. Epub 2021 Feb 10. PMID: 33567186.

Zurcher K, Kawashima A. Kartagener's Syndrome. N Engl J Med. 2021 Mar 25;384(12):e45. doi: 10.1056/NEJMicm2028152. Epub 2021 Mar 20. PMID: 33764707.

Amutah C, Greenidge K, Mante A, Munyikwa M, Surya SL, Higginbotham E, Jones DS, Lavizzo-Mourey R, Roberts D, Tsai J, Aysola J. Misrepresenting Race - The Role of Medical Schools in Propagating Physician Bias. N Engl J Med. 2021 Mar 4;384(9):872-878. doi: 10.1056/NEJMms2025768. Epub 2021 Jan 6. PMID: 33406326.

Rathmell JC. Obesity, Immunity, and Cancer. N Engl J Med. 2021 Mar 25;384(12):1160-1162. doi: 10.1056/NEJMcibr2035081. PMID: 33761213; PMCID: PMC8053443.

Gibbons GH, Seidman CE, Topol EJ. Conquering Atherosclerotic Cardiovascular Disease - 50 Years of Progress. N Engl J Med. 2021 Mar 4;384(9):785-788. doi: 10.1056/NEJMp2033115. Epub 2021 Feb 27. PMID: 33657686.

Butler PC. Supplying Insulin while Evading Immunity. N Engl J Med. 2021 Mar 11;384(10):967-969. doi: 10.1056/NEJMcibr2028410. PMID: 33704943.

Hu C, Hart SN, Gnanaolivu R, et al. A Population-Based Study of Genes Previously Implicated in Breast Cancer. N Engl J Med. 2021;384(5):440-451. doi:10.1056/NEJMoa2005936

Breast Cancer Association Consortium, Dorling L, Carvalho S, et al. Breast Cancer Risk Genes - Association Analysis in More than 113,000 Women. N Engl J Med. 2021;384(5):428-439. doi:10.1056/NEJMoa1913948

Narod, S.A. (2021). Which genes for hereditary breast cancer? N Engl J Med 2021; 384:471-473
DOI: 10.1056/NEJMe2035083

Di Matteo B, Marcacci M. Ochronosis. N Engl J Med. 2021;384(5):461. doi:10.1056/NEJMicm2025932

Borrell LN, Elhawary JR, Fuentes-Afflick E, et al. Race and Genetic Ancestry in Medicine - A Time for Reckoning with Racism. N Engl J Med. 2021;384(5):474-480. doi:10.1056/NEJMms2029562

Frangoul H, Altshuler D, Cappellini MD, et al. CRISPR-Cas9 Gene Editing for Sickle Cell Disease and β-Thalassemia. N Engl J Med. 2021;384(3):252-260. doi:10.1056/NEJMoa2031054

Nassar AH, Adib E, Kwiatkowski DJ. Distribution of KRASG12C Somatic Mutations across Race, Sex, and Cancer Type. N Engl J Med. 2021 Jan 14;384(2):185-187. doi: 10.1056/NEJMc2030638. PMID: 33497555.

Collins, F. S., Doudna, J. A., Lander, E. S., & Rotimi, C. N. (2021). Human Molecular Genetics and Genomics-Important Advances and Exciting Possibilities. The New England journal of medicine.

Walters MC. Induction of Fetal Hemoglobin by Gene Therapy. N Engl J Med. 2021;384(3):284-285. doi:10.1056/NEJMe2034338

Amutah C, Greenidge K, Mante A, et al. Misrepresenting Race - The Role of Medical Schools in Propagating Physician Bias [published online ahead of print, 2021 Jan 6]. N Engl J Med. 2021;10.1056/NEJMms2025768. doi:10.1056/NEJMms2025768

Esrick EB, Lehmann LE, Biffi A, et al. Post-Transcriptional Genetic Silencing of BCL11A to Treat Sickle Cell Disease. N Engl J Med. 2021;384(3):205-215. doi:10.1056/NEJMoa2029392

McNally EM. Cardiac Macrophages - Keeping the Engine Running Clean. N Engl J Med. 2020;383(25):2474-2476. doi:10.1056/NEJMcibr2030271

Levy-Lahad E, King MC. Hiding in Plain Sight - Somatic Mutation in Human Disease. N Engl J Med. 2020;383(27):2680-2682. doi:10.1056/NEJMe2030754

Arap W, Pasqualini R, Costello JF. Prostate Cancer Progression and the Epigenome. N Engl J Med. 2020;383(23):2287-2290. doi:10.1056/NEJMcibr2030475

Beck DB, Ferrada MA, Sikora KA, et al. Somatic Mutations in UBA1 and Severe Adult-Onset Autoinflammatory Disease. N Engl J Med. 2020;383(27):2628-2638. doi:10.1056/NEJMoa2026834

Rothstein, M. A., & Brothers, K. B. (2020). Banning Genetic Discrimination in Life Insurance—Time to Follow Florida’s Lead. New England Journal of Medicine, 383(22), 2099-2101.

Sparks TN, Lianoglou BR, Adami RR, et al. Exome Sequencing for Prenatal Diagnosis in Nonimmune Hydrops Fetalis. N Engl J Med. 2020;383(18):1746-1756. doi:10.1056/NEJMoa2023643

Mysorekar IU. Killing the Pathogen and Sparing the Placenta. N Engl J Med. 2020;383(21):2080-2082. doi:10.1056/NEJMcibr2028357

Coorens THH, Farndon SJ, Mitchell TJ, et al. Lineage-Independent Tumors in Bilateral Neuroblastoma. N Engl J Med. 2020;383(19):1860-1865. doi:10.1056/NEJMoa2000962

Chu CQ. Fibroblasts in Rheumatoid Arthritis. N Engl J Med. 2020;383(17):1679-1681. doi:10.1056/NEJMcibr2024718

Severe Covid-19 GWAS Group, Ellinghaus D, Degenhardt F, et al. Genomewide Association Study of Severe Covid-19 with Respiratory Failure. N Engl J Med. 2020;383(16):1522-1534. doi:10.1056/NEJMoa2020283

Kilby MD. Nonimmune Hydrops Fetalis - More Than Meets the Eye?. N Engl J Med. 2020;383(18):1785-1786. doi:10.1056/NEJMe2029914

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