Genetics Journal Club: 2014-2015

Phimister, E. G. (2015). Curating the way to better determinants of genetic risk. The New England Journal Of Medicine, 372(23), 2227-2228. doi:10.1056/NEJMe1506276

Jameson, J. L., & Longo, D. L. (2015). Precision medicine--personalized, problematic, and promising. The New England Journal Of Medicine, 372(23), 2229-2234. doi:10.1056/NEJMsb1503104

Rehm, H. L., Berg, J. S., Brooks, L. D., Bustamante, C. D., Evans, J. P., Landrum, M. J., & ... Watson, M. S. (2015). ClinGen--the Clinical Genome Resource. The New England Journal Of Medicine, 372(23), 2235-2242. doi:10.1056/NEJMsr1406261

Easton, D. F., Pharoah, P. P., Antoniou, A. C., Tischkowitz, M., Tavtigian, S. V., Nathanson, K. L., & ... Foulkes, W. D. (2015). Gene-panel sequencing and the prediction of breast-cancer risk. The New England Journal Of Medicine, 372(23), 2243-2257. doi:10.1056/NEJMsr1501341

Evans, B. J., Burke, W., & Jarvik, G. P. (2015). The FDA and genomic tests--getting regulation right. The New England Journal Of Medicine, 372(23), 2258-2264. doi:10.1056/NEJMsr1501194

Abina, S. H. B., Gaspar, H. B., Blondeau, J., Caccavelli, L., Charrier, S., Buckland, K., ... & Cavazzana, M. (2015). Outcomes Following Gene Therapy in Patients With Severe Wiskott-Aldrich Syndrome. JAMA, 313(15), 1550-1563.

Malech, H. L., & Ochs, H. D. (2015). An Emerging Era of Clinical Benefit From Gene Therapy. JAMA, 313(15), 1522-1523.

Bailey, D. B., & Gehtland, L. (2015). Newborn Screening: Evolving Challenges in an Era of Rapid Discovery. JAMA, 313(15), 1511-1512.

Norton, M. E., Jacobsson, B., Swamy, G. K., Laurent, L. C., Ranzini, A. C., Brar, H., ... & Wapner, R. J. (2015). Cell-free DNA analysis for noninvasive examination of trisomy. New England Journal of Medicine.

Chitty, L. S. (2015). Use of Cell-free DNA to Screen for Down's Syndrome. New England Journal of Medicine, 372(17), 1666-1667.

Nelson, C. P., Hamby, S. E., Saleheen, D., Hopewell, J. C., Zeng, L., Assimes, T. L., ... & Erdmann, J. (2015). Genetically Determined Height and Coronary Artery Disease. New England Journal of Medicine.

Lieberman, J., & Sharp, P. A. (2015). Harnessing RNA Interference for Therapy: The Silent Treatment. JAMA, 313(12), 1207-1208.

Monteleone, G., Neurath, M. F., Ardizzone, S., Di Sabatino, A., Fantini, M. C., Castiglione, F., ... & Pallone, F. (2015). Mongersen, an Oral SMAD7 Antisense Oligonucleotide, and Crohn’s Disease. New England Journal of Medicine, 372(12), 1104-1113.

Vermeire, S. (2015). Oral SMAD7 Antisense Drug for Crohn's Disease. New England Journal of Medicine, 372(12), 1166-1167.

Rockey, D. C., Bell, P. D., & Hill, J. A. (2015). Fibrosis—A Common Pathway to Organ Injury and Failure. New England Journal of Medicine, 372(12), 1138-1149.

Collins FS, Varmus H. A new initiative on precision medicine. N Engl J Med.
2015 Feb 26;372(9):793-5. doi: 10.1056/NEJMp1500523. Epub 2015 Jan 30. PubMed
PMID: 25635347.

Doudna JA. Genomic engineering and the future of medicine. JAMA. 2015 Feb
24;313(8):791-2. doi: 10.1001/jama.2015.287. PubMed PMID: 25710652.

Diouf B, Crews KR, Lew G, Pei D, Cheng C, Bao J, Zheng JJ, Yang W, Fan Y,
Wheeler HE, Wing C, Delaney SM, Komatsu M, Paugh SW, McCorkle JR, Lu X, Winick
NJ, Carroll WL, Loh ML, Hunger SP, Devidas M, Pui CH, Dolan ME, Relling MV, Evans
WE. Association of an inherited genetic variant with vincristine-related
peripheral neuropathy in children with acute lymphoblastic leukemia. JAMA. 2015
Feb 24;313(8):815-23. doi: 10.1001/jama.2015.0894. PubMed PMID: 25710658.

McLeod HL. Precision medicine to improve the risk and benefit of cancer care:
genetic factors in vincristine-related neuropathy. JAMA. 2015 Feb
24;313(8):803-4. doi: 10.1001/jama.2015.1086. PubMed PMID: 25710656.

Diehl, A. C., Reader, L., Hamosh, A., & Bodurtha, J. N. (2014). Horizontal integration of OMIM across the medical school preclinical curriculum for early reinforcement of clinical genetics principles. Genetics in Medicine.

Gadalla SM, Wang T, Haagenson M, et al. Association Between Donor Leukocyte Telomere Length and Survival After Unrelated Allogeneic Hematopoietic Cell Transplantation for Severe Aplastic Anemia. JAMA. 2015;313(6):594-602. doi:10.1001/jama.2015.7.

Saad A, Mineishi S, Innis-Shelton R. Telomere Length in Hematopoietic Stem Cell Transplantation for Severe Aplastic Anemia: Is It Ready for “Prime Time”?. JAMA. 2015;313(6):571-572. doi:10.1001/jama.2015.8.

Topol, E. J., Steinhubl, S. R., & Torkamani, A. (2015). Digital medical tools and sensors. Jama, 313(4), 353-354. doi:10.1001/jama.2014.17125

Green, R. C., Lautenbach, D., & McGuire, A. L. (2015). GINA, Genetic Discrimination, and Genomic Medicine. New England Journal of Medicine, 372(5), 397-399.

Stoltz, D. A., Meyerholz, D. K., & Welsh, M. J. (2015). Origins of Cystic Fibrosis Lung Disease. New England Journal of Medicine, 372(4), 351-362.

Wu, N., Ming, X., Xiao, J., Wu, Z., Chen, X., Shinawi, M., ... & Giampietro, P. F. (2015). TBX6 Null Variants and a Common Hypomorphic Allele in Congenital Scoliosis. New England Journal of Medicine.

Snyder, A., Makarov, V., Merghoub, T., Yuan, J., Zaretsky, J. M., Desrichard, A., ... & Chan, T. A. (2014). Genetic basis for clinical response to CTLA-4 blockade in melanoma. New England Journal of Medicine, 371(23), 2189-2199.

Boussiotis, V. A. (2014). Somatic Mutations and Immunotherapy Outcome with CTLA-4 Blockade in Melanoma. New England Journal of Medicine, 371(23), 2230-2232.

Gaudet, D., Brisson, D., Tremblay, K., Alexander, V. J., Singleton, W., Hughes, S. G., ... & Witztum, J. L. (2014). Targeting APOC3 in the Familial Chylomicronemia Syndrome. New England Journal of Medicine, 371(23), 2200-2206.

Longo, D. L. (2014). Cancer-Drug Discovery-Let's Get Ready for the Next Period. The New England journal of medicine, 371(23), 2227-2228.

Yang Y, Muzny DM, Xia F, et al. Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing. JAMA. 2014;312(18):1870-1879. doi:10.1001/jama.2014.14601.

Lee H, Deignan JL, Dorrani N, et al. Clinical Exome Sequencing for Genetic Identification of Rare Mendelian Disorders. JAMA. 2014;312(18):1880-1887. doi:10.1001/jama.2014.14604.

Berg JS. Genome-Scale Sequencing in Clinical Care: Establishing Molecular Diagnoses and Measuring Value. JAMA. 2014;312(18):1865-1867. doi:10.1001/jama.2014.14665.

van Hasselt, P. M., Ferdinandusse, S., Monroe, G. R., Ruiter, J. P. N., Turkenburg, M., Geerlings, M. J., . . . van Haaften, G. (2014). Monocarboxylate transporter 1 deficiency and ketone utilization. N Engl J Med, 371(20), 1900-1907. doi:10.1056/NEJMoa1407778

Feldmann, H. (2014). Ebola - A Growing Threat?. The New England Journal Of Medicine,

Baize, S., Pannetier, D., Oestereich, L., Rieger, T., Koivogui, L., Magassouba, N., & ... Günther, S. (2014). Emergence of Zaire Ebola Virus Disease in Guinea - Preliminary Report. The New England Journal Of Medicine.

Baden, L., Kanapathipillai, R., Campion, E., Morrissey, S., Rubin, E., & Drazen, J. (2014). Ebola - An Ongoing Crisis. The New England Journal Of Medicine

Rosen, M. (2014). Gene Therapy and Biological Pacing. The New England Journal Of Medicine, 371(12), 1158-1159.

Hu, Y. F., Dawkins, J. F., Cho, H. C., Marbán, E., & Cingolani, E. (2014). Biological pacemaker created by minimally invasive somatic reprogramming in pigs with complete heart block. Science translational medicine, 6(245), 245ra94-245ra94.

Munshi, N. V., & Olson, E. N. (2014). Improving cardiac rhythm with a biological pacemaker. Science, 345(6194), 268-269.

Chung, W., Chang, W., Lee, Y., Wu, Y., Yang, C., Ho, H., & ... Hung, S. (2014). Genetic variants associated with phenytoin-related severe cutaneous adverse reactions. JAMA: The Journal Of The American Medical Association, 312(5), 525-534. doi:10.1001/jama.2014.7859

Antoniou, A., Casadei, S., Heikkinen, T., Barrowdale, D., Pylkäs, K., Roberts, J., & ... Tischkowitz, M. (2014). Breast-cancer risk in families with mutations in PALB2. The New England Journal Of Medicine, 371(6), 497-506. doi:10.1056/NEJMoa1400382

Evans MK, Longo DL. (2014). PALB2 mutations and breast-cancer risk. N Engl J Med. 2014 Aug 7;371(6):566-8. doi: 10.1056/NEJMe1405784.

Crow, Y., & Casanova, J. (2014). STING-associated vasculopathy with onset in infancy--a new interferonopathy. The New England Journal Of Medicine, 371(6), 568-571. doi:10.1056/NEJMe1407246

Lu JT, Campeau PM, Lee BH. (2014). Genotype-phenotype correlation--promiscuity in the era of next-generation sequencing. N Engl J Med. 2014 Aug 14;371(7):593-6. doi: 10.1056/NEJMp1400788.

George JN, Nester CM. (2014). Syndromes of thrombotic microangiopathy. N Engl J Med. 2014 Aug 14;371(7):654-66. doi: 10.1056/NEJMra1312353.

Crosby, J., Peloso, G., Auer, P., Crosslin, D., Stitziel, N., Lange, L., & ... Kathiresan, S. (2014). Loss-of-function mutations in APOC3, triglycerides, and coronary disease. The New England Journal Of Medicine, 371(1), 22-31. doi:10.1056/NEJMoa1307095

Jørgensen, A., Frikke-Schmidt, R., Nordestgaard, B., & Tybjærg-Hansen, A. (2014). Loss-of-function mutations in APOC3 and risk of ischemic vascular disease. The New England Journal Of Medicine, 371(1), 32-41. doi:10.1056/NEJMoa1308027

Correspondence: Mutant COQ2 in Multiple-System Atrophy: NEJM: July 3, 2014: Vol 371, No. 3: pp 80-83