Genetics Journal Club: 2015-2016

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.

Bayry, J. (2016). Repressing Immunity in Autoimmune Disease. New England Journal of Medicine, 374(21), 2090-2092.

Tybjærg-Hansen, A. (2016). The Sialylation Pathway and Coronary Artery Disease. New England Journal of Medicine.

Nioi, P., Sigurdsson, A., Thorleifsson, G., Helgason, H., Agustsdottir, A. B., Norddahl, G. L., ... & Jonsdottir, I. (2016). Variant ASGR1 Associated with a Reduced Risk of Coronary Artery Disease. New England Journal of Medicine.

Bonham, V. L., Callier, S. L., & Royal, C. D. (2016). Will Precision Medicine Move Us beyond Race?. The New England journal of medicine, 374(21), 2003.

Blendon, R. J., Gorski, M. T., & Benson, J. M. (2016). The Public and the Gene-Editing Revolution. New England Journal of Medicine, 374(15), 1406-1411.

Laghmani, K., Beck, B. B., Yang, S. S., Seaayfan, E., Wenzel, A., Reusch, B., ... & Duin, L. K. (2016). Polyhydramnios, Transient Antenatal Bartter’s Syndrome, and MAGED2 Mutations. New England Journal of Medicine.

Knoers, N. V., & Bindels, R. J. (2011). MAGE-D2 and the Regulation of Renal Salt Transporters. New England Journal of Medicine.

Calos, M. P. (2016). The CRISPR Way to Think about Duchenne’s. New England Journal of Medicine, 374(17), 1684-1686.

Misra, M., Sagar, P., Friedmann, A. M., Ryan, D. P., & Sgroi, D. C. (2016). Case 12-2016: An 8-Year-Old Boy with an Enlarging Mass in the Right Breast. New England Journal of Medicine, 374(16), 1565-1574.

Salomon, D. R. (2016). A CRISPR Way to Block PERVs—Engineering Organs for Transplantation. New England Journal of Medicine, 374(11), 1089-1091.

Davidoff, A. M., & Nathwani, A. C. (2016). Genetic Targeting of the Albumin Locus to Treat Hemophilia. New England Journal of Medicine, 374(13), 1288-1290.

Dewey, F. E., Gusarova, V., O’Dushlaine, C., Gottesman, O., Trejos, J., Hunt, C., ... & Leader, J. B. (2016). Inactivating variants in ANGPTL4 and risk of coronary artery disease. New England Journal of Medicine.

CARDIoGRAM Exome Consortia Investigators. (2016). Coding Variation in ANGPTL4, LPL, and SVEP1 and the Risk of Coronary Disease. The New England journal of medicine, 374(12), 1134.

Kuehn, H. S., Boisson, B., Cunningham-Rundles, C., Reichenbach, J., Stray-Pedersen, A., Gelfand, E. W., ... & South, S. T. (2016). Loss of B Cells in Patients with Heterozygous Mutations in IKAROS. New England Journal of Medicine, 374(11), 1032-1043.

Charo, R. A. (2016). On the Road (to a Cure?)—Stem-Cell Tourism and Lessons for Gene Editing. New England Journal of Medicine.

Biller, J. A., Butros, S. R., Chan-Smutko, G., Abrams, A. N., Chung, D. C., & Hagen, C. E. (2016). Case 6-2016: A 10-Year-Old Boy with Abdominal Cramping and Fevers. New England Journal of Medicine, 374(8), 772-781.

Falk, M. J., Decherney, A., & Kahn, J. P. (2016). Mitochondrial Replacement Techniques—Implications for the Clinical Community. New England Journal of Medicine.

Ivey, A., Hills, R. K., Simpson, M. A., Jovanovic, J. V., Gilkes, A., Grech, A., ... & Wall, K. (2016). Assessment of Minimal Residual Disease in Standard-Risk AML. New England Journal of Medicine.

Hartmann, L. C., & Lindor, N. M. (2016). The Role of Risk-Reducing Surgery in Hereditary Breast and Ovarian Cancer. New England Journal of Medicine, 374(5), 454-468.

Roberts, A. W., Davids, M. S., Pagel, J. M., Kahl, B. S., Puvvada, S. D., Gerecitano, J. F., ... & Wong, S. (2015). Targeting BCL2 with venetoclax in relapsed chronic lymphocytic leukemia. New England Journal of Medicine.

Wilson, W. H. (2016). Progress in Chronic Lymphocytic Leukemia with Targeted Therapy. New England Journal of Medicine, 374(4), 386-388.

Cancer Genome Atlas Research Network, Linehan WM, Spellman PT, et al. Comprehensive Molecular Characterization of Papillary Renal-Cell Carcinoma. N Engl J Med. 2016 Jan 14;374(2):135-45. doi: 10.1056/NEJMoa1505917. Epub 2015 Nov 4. PubMed PMID: 26536169.

Mucci, L. A., Hjelmborg, J. B., Harris, J. R., Czene, K., Havelick, D. J., Scheike, T., ... & McIntosh, C. (2016). Familial Risk and Heritability of Cancer Among Twins in Nordic Countries. JAMA, 315(1), 68-76.

Van Driest, S. L., Wells, Q. S., Stallings, S., Bush, W. S., Gordon, A., Nickerson, D. A., ... & Ralston, J. D. (2016). Association of arrhythmia-related genetic variants with phenotypes documented in electronic medical records. JAMA, 315(1), 47-57.

Zhang, J., Walsh, M. F., Wu, G., Edmonson, M. N., Gruber, T. A., Easton, J., ... & Wilkinson, M. R. (2015). Germline mutations in predisposition genes in pediatric cancer. New England Journal of Medicine, 373(24), 2336-2346.

Maris, J. M. (2015). Defining Why Cancer Develops in Children. New England Journal of Medicine, 373(24), 2373-2375.

McDonald-Mosley, R. (2015). Tearing Down the Fetal Tissue Smokescreen. New England Journal of Medicine, 373(24), 2376-2377.

Burman KD, Wartofsky L. CLINICAL PRACTICE. Thyroid Nodules. N Engl J Med. 2015 Dec 10;373(24):2347-56. doi: 10.1056/NEJMcp1415786. PubMed PMID: 26650154.

Mate, S. E., Kugelman, J. R., Nyenswah, T. G., Ladner, J. T., Wiley, M. R., Cordier-Lassalle, T., ... & Shinde, S. A. (2015). Molecular evidence of sexual transmission of Ebola virus. New England Journal of Medicine, 373(25), 2448-2454.

Quinn, D. I., & Lara Jr, P. N. (2015). Renal-Cell Cancer—Targeting an Immune Checkpoint or Multiple Kinases. New England Journal of Medicine, 373(19), 1872-1874.

Muehlenbachs, A., Bhatnagar, J., Agudelo, C. A., Hidron, A., Eberhard, M. L., Mathison, B. A., ... & Zaki, S. R. (2015). Malignant Transformation of Hymenolepis nana in a Human Host. New England Journal of Medicine, 373(19), 1845-1852.

Vogelstein, B., & Kinzler, K. W. (2015). The Path to Cancer--Three Strikes and You're Out. The New England journal of medicine, 373(20), 1895-1898.

Shain, A. H., Yeh, I., Kovalyshyn, I., Sriharan, A., Talevich, E., Gagnon, A., ... & Bastian, B. C. (2015). The Genetic Evolution of Melanoma from Precursor Lesions. New England Journal of Medicine, 373(20), 1926-1936.

Egan, J. M. (2015). Targeting Stem Cells in Chronic Myeloid Leukemia with a PPAR-γ Agonist. New England Journal of Medicine, 373(20), 1973-1975.

DNA-Repair Defects and Olaparib in Metastatic Prostate Cancer. New England Journal Of Medicine [serial online]. October 29, 2015;373(18):1697-1708 12p. Available from: CINAHL Plus with Full Text, Ipswich, MA. Accessed November 2, 2015.

Targeting Mutant BRAF in Relapsed or Refractory Hairy-Cell Leukemia. (2015). New England Journal of Medicine, 373(18), 1733-1747 15p. doi:10.1056/NEJMoa1506583

Neafsey, D. E., Juraska, M., Bedford, T., Benkeser, D., Valim, C., Griggs, A., & ... Wirth, D. F. (2015). Genetic Diversity and Protective Efficacy of the RTS,S/AS01 Malaria Vaccine. The New England Journal Of Medicine,

Plowe CV. Vaccine-Resistant Malaria. N Engl J Med. 2015 Oct 21. [Epub ahead of
print] PubMed PMID: 26488465.

Teo, A. D., Garg, S., Shaikh, L. H., Junhua, Z., Karet Frankl, F. E., Gurnell, M., & ... Zhou, J. (2015). Pregnancy, Primary Aldosteronism, and Adrenal CTNNB1 Mutations. New England Journal Of Medicine, 373(15), 1429-1436. doi:10.1056/NEJMoa1504869

Döhner H, Weisdorf DJ, Bloomfield CD. Acute Myeloid Leukemia. N Engl J Med.
2015 Sep 17;373(12):1136-52. doi: 10.1056/NEJMra1406184. PubMed PMID: 26376137.

Elledge SJ. The DNA Damage Response--Self-awareness for DNA: The 2015 Albert
Lasker Basic Medical Research Award. JAMA. 2015 Sep 15;314(11):1111-2. doi:
10.1001/jama.2015.10387. PubMed PMID: 26348099.

Allison JP. Immune Checkpoint Blockade in Cancer Therapy: The 2015
Lasker-DeBakey Clinical Medical Research Award. JAMA. 2015 Sep 15;314(11):1113-4.
doi: 10.1001/jama.2015.11929. PubMed PMID: 26348357.

Peterson ED. The Lasker Awards--Recognizing and Valuing Investments in
Cardiovascular Research. JAMA. 2015 Sep 15;314(11):1121-2. doi:
10.1001/jama.2015.10486. PubMed PMID: 26372573.

Relman DA. The Human Microbiome and the Future Practice of Medicine. JAMA.
2015 Sep 15;314(11):1127-8. doi: 10.1001/jama.2015.10700. PubMed PMID: 26372576.

Feinberg AP, Fallin MD. Epigenetics at the Crossroads of Genes and the
Environment. JAMA. 2015 Sep 15;314(11):1129-30. doi: 10.1001/jama.2015.10414.
PubMed PMID: 26372577.

Klco JM and others: Association Between Mutation Clearance After Induction Therapy and Outcomes in Acute Myeloid Leukemia: JAMA. 2015; 314(8): 811-822.

Pastore F and Levine RL: Next-Generation Sequencing and Detection of Minimal Residual Disease in Acute Myeloid Leukemia: JAMA. 2015; 314(8): 778-780

Claussnitzer M and other: FTO Obesity Variant Circuitry and Adipocyte Browning in Humans: NEJM: August 19, 2015: pages 1-13.

Mellins ED, Kay MA: Clinical Implications of Basic Research; Viral Vectors Take on HIV Infection: NEJM: 373; 8: August 20, 2015: pages 770-772.

Petersdorf EW and others: High HLA-DP Expression and Graft-versus-Host Disease: NEJM: 373;7: August 13, 2015: pages 599-609.

Fleischhauer K. Editorial: Immunogenetics of HLA-DP – A New View of Permissible Mismatches: NEJM: 373;7: August 13, 2015: pages 669-672.

Cancer Genome Atlas Research Network, Brat DJ, Verhaak RG, Aldape KD, et al. Comprehensive, Integrative Genomic Analysis of Diffuse Lower-Grade Gliomas. N Engl J Med. 2015 Jun 25;372(26):2481-98. doi: 10.1056/NEJMoa1402121. Epub 2015 Jun 10. PubMed PMID: 26061751.

Eckel-Passow JE, Lachance DH, Molinaro AM, et al. Glioma Groups Based on 1p/19q, IDH, and TERT Promoter Mutations in Tumors. N Engl J Med. 2015 Jun 25;372(26):2499-508. doi: 10.1056/NEJMoa1407279. Epub 2015 Jun 10. PubMed PMID: 26061753.

Le DT, Uram JN, Wang H, et al. PD-1 Blockade in Tumors with Mismatch-Repair Deficiency. N Engl J Med. 2015 Jun 25;372(26):2509-20. doi: 10.1056/NEJMoa1500596. Epub 2015 May 30. PubMed PMID: 26028255; PubMed Central PMCID: PMC4481136.

Ellison DW. Multiple Molecular Data Sets and the Classification of Adult Diffuse Gliomas. N Engl J Med. 2015 Jun 5;372(26):2555-7. doi: 10.1056/NEJMe1506813. Epub 2015 Jun 10. PubMed PMID: 26061754.

Lander, E. S. (2015). Brave New Genome. New England Journal of Medicine.

Yoshizato, T., Dumitriu, B., Hosokawa, K., Makishima, H., Yoshida, K., Townsley, D., ... & Ogawa, S. (2015). Somatic Mutations and Clonal Hematopoiesis in Aplastic Anemia. New England Journal of Medicine, 373(1), 35-47.