Genetics Journal Club: 2016-17

Jaiswal S, Natarajan P, Silver AJ, et al. (2017). Clonal Hematopoiesis and Risk of Atherosclerotic Cardiovascular Disease. N Engl J Med. 2017 Jun 21. doi: 10.1056/NEJMoa1701719. [Epub ahead of print] PubMed PMID: 28636844.

Venook AP, Niedzwiecki D, Lenz HJ,et al. (2017). Effect of First-Line Chemotherapy Combined With Cetuximab or Bevacizumab on Overall Survival in Patients With KRAS Wild-Type Advanced or Metastatic Colorectal Cancer: A Randomized Clinical Trial. JAMA. 2017 Jun 20;317(23):2392-2401. doi: 10.1001/jama.2017.7105. PubMed PMID: 28632865.

Kuchenbaecker KB, Hopper JL, Barnes DR, ML et al. (2017). . Risks of Breast, Ovarian, and Contralateral Breast Cancer for BRCA1 and BRCA2 Mutation Carriers. JAMA. 2017 Jun 20;317(23):2402-2416. doi: 10.1001/jama.2017.7112. PubMed PMID: 28632866.

Keaney JF Jr. CHIP-ping Away at Atherosclerosis. N Engl J Med. 2017 Jun 21.
doi: 10.1056/NEJMe1706173. [Epub ahead of print] PubMed PMID: 28636833.

Robles AI, Zenklusen JC. (2017). Seeing the Forest through the Phylogenetic Tree. N Engl J Med. 2017 Jun 1;376(22):2190-2191. doi: 10.1056/NEJMe1704618. PubMed PMID: 28564575.

Anglesio, M. S., Papadopoulos, N., Ayhan, A., Nazeran, T. M., Noë, M., Horlings, H. M., & ... Shih, I. (2017). Cancer-Associated Mutations in Endometriosis without Cancer. The New England Journal Of Medicine, 376(19), 1835-1848. doi:10.1056/NEJMoa1614814

Montgomery, G. W., & Giudice, L. C. (2017). New Lessons about Endometriosis - Somatic Mutations and Disease Heterogeneity. The New England Journal Of Medicine, 376(19), 1881-1882. doi:10.1056/NEJMe1701700

West, K. M., Blacksher, E., & Burke, W. (2017). Genomics, Health Disparities, and Missed Opportunities for the Nation's Research Agenda. Jama, 317(18), 1831-1832. doi:10.1001/jama.2017.3096

Roca-Ayats, N., Balcells, S., Garcia-Giralt, N., Falcó-Mascaró, M., Martínez-Gil, N., Abril, J. F., & ... Díez-Pérez, A. (2017). GGPS1 Mutation and Atypical Femoral Fractures with Bisphosphonates. The New England Journal Of Medicine, 376(18), 1794-1795. doi:10.1056/NEJMc1612804

Feero, W. G. (2017). Introducing "Genomics and Precision Health". Jama, 317(18), 1842-1843. doi:10.1001/jama.2016.20625

Hynes, R. O., Coller, B. S., & Porteus, M. (2017). Toward Responsible Human Genome Editing. Jama, 317(18), 1829-1830. doi:10.1001/jama.2017.4548

Korn T, Oukka M. A (2017). BAFFling Association between Malaria Resistance and the Risk of Multiple Sclerosis. N Engl J Med. 2017 Apr 27;376(17):1680-1681. doi:
10.1056/NEJMe1700720. PubMed PMID: 28445672.

Steri M, Orrù V, Idda ML, et al. (2017). Overexpression of the Cytokine BAFF and Autoimmunity Risk. N Engl J Med. 2017 Apr 27;376(17):1615-1626. doi: 10.1056/NEJMoa1610528. PubMed PMID: 28445677.

Piel FB, Steinberg MH, Rees DC. Sickle Cell Disease. N Engl J Med. 2017 Apr 20;376(16):1561-1573. doi: 10.1056/NEJMra1510865. PubMed PMID: 28423290.

Grembecka J, Cierpicki T. (2017). Stabilizing the Mixed Lineage Leukemia Protein. N Engl J Med. 2017 Apr 27;376(17):1688-1689. doi: 10.1056/NEJMcibr1700964. PubMed PMID: 28445666.

Jamal-Hanjani M, Wilson GA, McGranahan N, et al. (2017). Tracking the Evolution of Non-Small-Cell Lung Cancer. N Engl J Med. 2017 Apr 26. doi: 10.1056/NEJMoa1616288. [Epub ahead of print] PubMed PMID: 28445112.

Moutsopoulos, N. M., Zerbe, C. S., Wild, T., Dutzan, N., Brenchley, L., DiPasquale, G., ... & Hajishengallis, G. (2017). Interleukin-12 and Interleukin-23 Blockade in Leukocyte Adhesion Deficiency Type 1. New England Journal of Medicine, 376(12), 1141-1146.

Bieniasz, P. (2017). Repurposing a Bacterial Immune System to Discover Antiviral Targets. The New England Journal Of Medicine, 376(13), 1290-1291. doi:10.1056/NEJMcibr1616057

Mandai, M., Watanabe, A., Kurimoto, Y., Hirami, Y., Morinaga, C., Daimon, T., ... & Terada, M. (2017). Autologous Induced Stem-Cell–Derived Retinal Cells for Macular Degeneration. New England Journal of Medicine, 376(11), 1038-1046.

Kuriyan, A. E., Albini, T. A., Townsend, J. H., Rodriguez, M., Pandya, H. K., Leonard, R. E., ... & Goldberg, J. L. (2017). Vision Loss after Intravitreal Injection of Autologous “Stem Cells” for AMD. New England Journal of Medicine, 376(11), 1047-1053.

Kristensen, V. N. (2017). The Antigenicity of the Tumor Cell—Context Matters. New England Journal of Medicine, 376(5), 491-493.

Moscicki, R. A., & Tandon, P. K. (2017). Drug-Development Challenges for Small Biopharmaceutical Companies. New England Journal of Medicine, 376(5), 469-474.

Lindsley, R. C., Saber, W., Mar, B. G., Redd, R., Wang, T., Haagenson, M. D., ... & Verneris, M. R. (2017). Prognostic Mutations in Myelodysplastic Syndrome after Stem-Cell Transplantation. New England Journal of Medicine, 376(6), 536-547.

Corrado D, Link MS, Calkins H. (2017). Arrhythmogenic Right Ventricular Cardiomyopathy. N Engl J Med. 2017 Jan 5;376(1):61-72. doi: 10.1056/NEJMra1509267. Review. PubMed PMID: 28052233.

Strom, C. M., Maxwell, M. D., & Owen, R. (2017). Improving the Accuracy of Prenatal Screening with DNA Copy-Number Analysis. New England Journal of Medicine, 376(2), 188-189.

Lopez-Rivera, E., Liu, Y. P., Verbitsky, M., Anderson, B. R., Capone, V. P., Otto, E. A., ... & Fasel, D. A. (2017). Genetic Drivers of Kidney Defects in the DiGeorge Syndrome. New England Journal of Medicine.

Posey, J. E., Harel, T., Liu, P., Rosenfeld, J. A., James, R. A., Coban Akdemir, Z. H., ... & Xia, F. (2017). Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation. New England Journal of Medicine, 376(1), 21-31.

Blum, S., Shapir, N., Miari, R., Lerner, B., Koren, B., Doenyas-Barak, K., ... & Yagil, Y. (2017). TARGT Gene Therapy Platform for Correction of Anemia in End-Stage Renal Disease. New England Journal of Medicine, 376(2), 189-191.

Herbert, M., & Turnbull, D. (2016). Mitochondrial Donation—Clearing the Final Regulatory Hurdle in the United Kingdom. New England Journal of Medicine.

Cook-Deegan, R., & Chandrasekharan, S. (2016). Sequenom v. Ariosa-The Death of a Genetic Testing Patent. The New England journal of medicine, 375(25), 2418.

Brown, C. E., Alizadeh, D., Starr, R., Weng, L., Wagner, J. R., Naranjo, A., ... & Kurien, A. (2016). Regression of Glioblastoma after Chimeric Antigen Receptor T-Cell Therapy. New England Journal of Medicine, 375(26), 2561-2569.

Posey, J. E., Harel, T., Liu, P., Rosenfeld, J. A., James, R. A., Coban Akdemir, Z. H., ... & Xia, F. (2016). Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation. New England Journal of Medicine.

Sweetser, D. A., Lin, A. E., Troulis, M. J., Chen, T. C., & Westra, S. J. (2016). Case 34-2016: A 17-Year-Old Boy with Myopia and Craniofacial and Skeletal Abnormalities. New England Journal of Medicine, 375(19), 1879-1890.

Marks, P. W., Witten, C. M., & Califf, R. M. (2016). Clarifying Stem-Cell Therapy’s Benefits and Risks. New England Journal of Medicine.

Khera, A. V., Emdin, C. A., Drake, I., Natarajan, P., Bick, A. G., Cook, N. R., ... & Fuster, V. (2016). Genetic Risk, Adherence to a Healthy Lifestyle, and Coronary Disease. New England Journal of Medicine.

Boussiotis, V. A. (2016). Molecular and Biochemical Aspects of the PD-1 Checkpoint Pathway. New England Journal of Medicine, 375(18), 1767-1778.

Leebeek, F. G., & Eikenboom, J. J. (2016). Von Willebrand's Disease. New England Journal Of Medicine, 375(21), 2067-2080. doi:10.1056/NEJMra160156

Estey, E. (2016, November 24). Acute Myeloid Leukemia — Many Diseases, Many Treatments. New England Journal of Medicine. pp. 2094-2095. doi:10.1056/NEJMe1611424.

Peyrot, W. J., Robinson, M. R., Penninx, B. W., & Wray, N. R. (2016). Exploring Boundaries for the Genetic Consequences of Assortative Mating for Psychiatric Traits. JAMA psychiatry.

Wald DS, Bestwick JP, Morris JK, Whyte K, Jenkins L, Wald NJ. Child-Parent
Familial Hypercholesterolemia Screening in Primary Care. N Engl J Med. 2016 Oct 27;375(17):1628-1637. PubMed PMID: 27783906.

Kaasik, A. (2016). Mitochondrial Mobility and Neuronal Recovery. New England Journal of Medicine, 375(13), 1295-1296.

Dzau, V. J., & Ginsburg, G. S. (2016). Realizing the full potential of precision medicine in health and health care. JAMA.

Hortobagyi, G. N., Stemmer, S. M., Burris, H. A., Yap, Y. S., Sonke, G. S., Paluch-Shimon, S., ... & Janni, W. (2016). Ribociclib as First-Line Therapy for HR-Positive, Advanced Breast Cancer. New England Journal of Medicine.

Tannock IF, Hickman JA. Limits to Personalized Cancer Medicine. N Engl J Med. 2016 Sep 29;375(13):1289-94. doi: 10.1056/NEJMsb1607705. PubMed PMID: 27682039.

Fagin, J. A., & Wells Jr, S. A. (2016). Biologic and Clinical Perspectives on Thyroid Cancer. New England Journal of Medicine, 375(11), 1054-1067.

Zaretsky, J. M., Garcia-Diaz, A., Shin, D. S., Escuin-Ordinas, H., Hugo, W., Hu-Lieskovan, S., ... & Saco, J. (2016). Mutations associated with acquired resistance to PD-1 blockade in melanoma. New England Journal of Medicine, 375(9), 819-829.

Chesler, A. T., Szczot, M., Bharucha-Goebel, D., Čeko, M., Donkervoort, S., Laubacher, C., ... & Innes, A. M. (2016). The Role of PIEZO2 in Human Mechanosensation. New England Journal of Medicine.

Manrai AK, Funke BH, Rehm HL, Olesen MS, Maron BA, Szolovits P, Margulies DM, Loscalzo J, Kohane IS. (2016). Genetic Misdiagnoses and the Potential for Health Disparities. N Engl J Med. 2016 Aug 8;375(7):655-65. doi: 10.1056/NEJMsa1507092. PubMed PMID: 27532831.

Pritchard, C. C., Mateo, J., Walsh, M. F., De Sarkar, N., Abida, W., Beltran, H., ... & Elemento, O. (2016). Inherited DNA-repair gene mutations in men with metastatic prostate cancer. New England Journal of Medicine, 375(5), 443-453.Engl J Med. 2016 Aug 4;375(5):443-53. doi: 10.1056/NEJMoa1603144. Epub 2016 Jul 6. PubMed PMID: 27433846; PubMed Central PMCID: PMC4986616.

Germain, D. P., Hughes, D. A., Nicholls, K., Bichet, D. G., Giugliani, R., Wilcox, W. R., ... & Bratkovic, D. (2016). Treatment of Fabry’s Disease with the Pharmacologic Chaperone Migalastat. New England Journal of Medicine, 375(6), 545-555.

Stein, M. M., Hrusch, C. L., Gozdz, J., Igartua, C., Pivniouk, V., Murray, S. E., ... & Neilson, J. W. (2016). Innate Immunity and Asthma Risk in Amish and Hutterite Farm Children. New England Journal of Medicine, 375(5), 411-421.

Chatila TA. (2016) Innate Immunity in Asthma. N Engl J Med. 2016 Aug 4;375(5):477-9.
doi: 10.1056/NEJMe1607438. PubMed PMID: 27518667.

Simsek Kiper, P. O., Saito, H., Gori, F., Unger, S., Hesse, E., Yamana, K., ... & Boduroglu, K. (2016). Cortical-Bone Fragility—Insights from sFRP4 Deficiency in Pyle’s Disease. New England Journal of Medicine, 374(26), 2553-2562.

Tarailo-Graovac, M., Shyr, C., Ross, C. J., Horvath, G. A., Salvarinova, R., Ye, X. C., ... & Abdelsayed, M. (2016). Exome sequencing and the management of neurometabolic disorders. New England Journal of Medicine.

Gotlib, J., Kluin-Nelemans, H. C., George, T. I., Akin, C., Sotlar, K., Hermine, O., ... & Villeneuve, M. (2016). Efficacy and Safety of Midostaurin in Advanced Systemic Mastocytosis. New England Journal of Medicine, 374(26), 2530-2541.

Berkowitz, A. L., Miller, M. B., Mir, S. A., Cagney, D., Chavakula, V., Guleria, I., ... & Chi, J. H. (2016). Glioproliferative Lesion of the Spinal Cord as a Complication of “Stem-Cell Tourism”. New England Journal of Medicine.

Tilg, H. (2016). A Gut Feeling about Thrombosis. New England Journal of Medicine, 374(25), 2494-2496.