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Frontiers in Oncology|August 14, 2018
Quantitative Analysis of BRCA1 and BRCA2 Germline Splicing Variants Using a Novel RNA-Massively Parallel Sequencing AssaySuzette Farber-Katz, Vickie Hsuan, Sitao Wu, et al.JAMA Oncology|August 22, 2018
Association of Breast and Ovarian Cancers With Predisposition Genes Identified by Large-Scale SequencingHsiao-Mei Lu, Shuwei Li, Mary Helen Black, et al.The Prostate|December 1, 2020
Validation of a prostate cancer polygenic risk scoreMary H Black, Shuwei Li, Holly LaDuca, et al.Oncoimmunology|April 4, 2022
Serial changes in liquid biopsy-derived variant allele frequency predict immune checkpoint inhibitor responsiveness in the pan-cancer settingShumei Kato, Bing Li, Jacob J Adashek, et al.British Journal of Haematology|November 9, 2022
Inherited cancer predisposing mutations in patients with therapy-related myeloid neoplasmsAndrew J Shih, Tomi Jun, Andrew D Skol, et al.Neurology|March 21, 2014
Congenital lethal motor neuron disease with a novel defect in ribosome biogenesisRussell J Butterfield, Tamara J Stevenson, Lingyan Xing, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 12, 2016
Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseasesKelly D Farwell Hagman, Deepali N Shinde, Cameron Mroske, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 2, 2018
Correction: Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseasesKelly D Farwell Hagman, Deepali N Shinde, Cameron Mroske, et al.Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology|February 1, 2019
Comprehensive Paired Tumor/Germline Testing for Lynch Syndrome: Bringing Resolution to the Diagnostic ProcessMonalyn U Salvador, Melissa R F Truelson, Carla Mason, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 31, 2014
Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditionsKelly D Farwell, Layla Shahmirzadi, Dima El-Khechen, et al.Pageof 4