1.
Biesecker LG, Nussbaum RL, Rehm HL. Distinguishing Variant Pathogenicity From Genetic Diagnosis: How to Know Whether a Variant Causes a Condition. JAMA. 2018;320(18):1929-1930. doi:10.1001/jama.2018.14900.
1.
Devarakonda S, Li Y, Rodrigues FM, et al. Genomic Profiling of Lung Adenocarcinoma in Never-Smokers. J Clin Oncol. 2021;39(33):3747-3758. doi:10.1200/JCO.21.01691.
1.
Hamieh L, Choueiri TK, Ogórek B, et al. Mechanisms of acquired resistance to rapalogs in metastatic renal cell carcinoma. PLoS Genet. 2018;14(9):e1007679. doi:10.1371/journal.pgen.1007679.
1.
Guo MH, Plummer L, Chan Y-M, Hirschhorn JN, Lippincott MF. Burden Testing of Rare Variants Identified through Exome Sequencing via Publicly Available Control Data. Am J Hum Genet. 2018;103(4):522-534. doi:10.1016/j.ajhg.2018.08.016.
1.
Braun DA, Shril S, Sinha A, et al. Mutations in WDR4 as a new cause of Galloway-Mowat syndrome. Am J Med Genet A. 2018;176(11):2460-2465. doi:10.1002/ajmg.a.40489.
1.
Khera AV, Mason-Suares H, Brockman D, et al. Rare Genetic Variants Associated With Sudden Cardiac Death in Adults. J Am Coll Cardiol. 2019;74(21):2623-2634. doi:10.1016/j.jacc.2019.08.1060.
1.
Gusarova V, O’Dushlaine C, Teslovich TM, et al. Genetic inactivation of ANGPTL4 improves glucose homeostasis and is associated with reduced risk of diabetes. Nat Commun. 2018;9(1):2252. doi:10.1038/s41467-018-04611-z.
1.
Johnson K, Bertoli M, Phillips L, et al. Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness. Skelet Muscle. 2018;8(1):23. doi:10.1186/s13395-018-0170-1.
1.
Hui KY, Fernandez-Hernandez H, Hu J, et al. Functional variants in the gene confer shared effects on risk for Crohn’s disease and Parkinson’s disease. Sci Transl Med. 2018;10(423). doi:10.1126/scitranslmed.aai7795.
1.
Vis DJ, Lewin J, Liao RG, et al. Towards a global cancer knowledge network: dissecting the current international cancer genomic sequencing landscape. Ann Oncol. 2017;28(5):1145-1151. doi:10.1093/annonc/mdx037.