Green RC, Goddard KAB, Jarvik GP, et al. Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine. Am J Hum Genet. 2016;98(6):1051-66. doi:10.1016/j.ajhg.2016.04.011
Publications
Park JG, Tischfield MA, Nugent AA, et al. Loss of MAFB Function in Humans and Mice Causes Duane Syndrome, Aberrant Extraocular Muscle Innervation, and Inner-Ear Defects. Am J Hum Genet. 2016;98(6):1220-7. doi:10.1016/j.ajhg.2016.03.023
Amendola LM, Jarvik GP, Leo MC, et al. Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium. Am J Hum Genet. 2016;98(6):1067-76. doi:10.1016/j.ajhg.2016.03.024
Gaskell E. From Mechanism to Observation and Back Again. Mol Cell. 2016;62(5):649. doi:10.1016/j.molcel.2016.05.022
Liu TC, Gurram B, Baldridge MT, et al. Paneth cell defects in Crohn’s disease patients promote dysbiosis. JCI Insight. 2016;1(8):e86907. doi:10.1172/jci.insight.86907
Sleiman SF, Henry J, Al-Haddad R, et al. Exercise promotes the expression of brain derived neurotrophic factor (BDNF) through the action of the ketone body β-hydroxybutyrate. Elife. 2016;5. doi:10.7554/eLife.15092
Scott RA, Freitag DF, Li L, et al. A genomic approach to therapeutic target validation identifies a glucose-lowering GLP1R variant protective for coronary heart disease. Sci Transl Med. 2016;8(341):341ra76. doi:10.1126/scitranslmed.aad3744
Ali YO, Allen HM, Yu L, et al. NMNAT2:HSP90 Complex Mediates Proteostasis in Proteinopathies. PLoS Biol. 2016;14(6):e1002472. doi:10.1371/journal.pbio.1002472
Kosmicki JA, Churchhouse CL, Rivas MA, Neale BM. Discovery of rare variants for complex phenotypes. Hum Genet. 2016;135(6):625-34. doi:10.1007/s00439-016-1679-1
Kelly RS, Heiden MGV, Giovannucci E, Mucci LA. Metabolomic Biomarkers of Prostate Cancer: Prediction, Diagnosis, Progression, Prognosis, and Recurrence. Cancer Epidemiol Biomarkers Prev. 2016;25(6):887-906. doi:10.1158/1055-9965.EPI-15-1223