CGI Scientists

Vail PJ, Morris B, vanKan A, et al. (2016) Comparison of locus-specific databases for BRCA1 and BRCA2 variants reveals disparity in variant classification within and among databases. Journal of Community Genetics. 6(4):351-359

Lawrence MS, Sougnez C, Lichtenstein L, et al. (2015) Comprehensive genomic characterization of head and neck squamous cell carcinomas. Nature. 517(7536):576-582

Hoadley KA, Yau Christina, Wolf DM, et al. (2014) Multiplatform analysis of 12 cancer types reveals molecular classification within and across tissues of origin. Cell. 158(4):929-944

Pruss D, Morris B, Hughes E, Eggington JM, et al. (2014) Development and validation of a new algorithm for the reclassification of genetic variants identified in the BRCA1 and BRCA2 genes. Breast Cancer Research and Treatment. 147(1):119-132.

Chang K, Creighton CJ, Davis C, et al. (2013) The Cancer Genome Atlas pan-cancer analysis project. Nature Genetics. 45(10):1113-20

Eggington JM, Bowles KR, Moyes K, et al. (2013) A comprehensive laboratory-based program for classification of variants of uncertain significance in hereditary cancer genes. Clinical Genetics. 86:229–237

Biswas K, Das R, Eggington JM, et al. (2012) Functional evaluation of BRCA2 variants mapping to the PALB2-binding and C- terminal DNA-binding domains using a mouse ES cell-based assay. Human Molecular Genetics. 21(18):3993-4006.

Adonizio C, Gazzillo M, Knezetic J, et al. (2012 ) Thirty-nine-year-old with familial colon cancer, and variant of undetermined significance in MSH6. Seminars in Oncology. 39(2):125-131.

Authors Outside of CGI

Kalia SS, Adelman K, Bale SJ, et al. (2017) Recommendations for reporting of secondary findings in clinical exome and genomes sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. Genetics in  Medicine. 19(2):249-255

Amendola LM, Jarvik GP, Leo MC, et al. (2016) Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium.  The American Journal of Human Genetics. 98:1067–1076

Balmaña J, Digiovanni L, Gaddam P, et al. (2016) Conflicting Interpretation of Genetic Variants and Cancer Risk by Commercial Laboratories as Assessed by the Prospective Registry of Multiplex Testing. Journal of Clinical Oncology. 34(34):4071-4078

Richards S, Aziz N, Bale S, et al. (2015) Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genetics in  Medicine. 17(50):405-424

Thompson BA, Spurdle AB, Plazzer JP, et al. (2014) Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database. Nature Genetics. 46(2):107-15