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Search Within
  1. "2018"
Formats
  1. Journal Article (6)
Groups
  1. Clinical Genetics Service (3)
  2. Department of Medicine (3)
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  4. Population Sciences Research Program (3)
  5. Solid Tumor Oncology Division (3)
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Years
  1. 2018 (6)
Publications
  1. Human Mutation (6)

Results (6)


Citation style sort is year ascending, and then by author or title. Author ascending is default.
  • Gene-specific criteria for PTEN variant curation: Recommendations from the ClinGen PTEN Expert Panel
    Journal Article

    Mester, J. L.; Ghosh, R.; Pesaran, T.; Huether, R.; Karam, R.; Hruska, K. S.; Costa, H. A.; Lachlan, K.; Ngeow, J.; Barnholtz-Sloan, J.; more...
    Human Mutation (2018)

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  • Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline CDH1 sequence variants
    Journal Article

    Lee, K.; Krempely, K.; Roberts, M. E.; Anderson, M. J.; Carneiro, F.; Chao, E.; Dixon, K.; Figueiredo, J.; Ghosh, R.; Huntsman, D.; more...
    Human Mutation (2018)

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  • Integrating somatic variant data and biomarkers for germline variant classification in cancer predisposition genes
    Journal Article

    Walsh, M. F.; Ritter, D. I.; Kesserwan, C.; Sonkin, D.; Chakravarty, D.; Chao, E.; Ghosh, R.; Kemel, Y.; Wu, G.; Lee, K.; more...
    Human Mutation (2018)

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  • NGS testing for cardiomyopathy: Utility of adding RASopathy-associated genes
    Journal Article

    Ceyhan-Birsoy, O.; Miatkowski, M. M.; Hynes, E.; Funke, B. H.; Mason-Suares, H.
    Human Mutation (2018)

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  • Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations
    Journal Article

    Rebbeck, T. R.; Friebel, T. M.; Friedman, E.; Hamann, U.; Huo, D.; Kwong, A.; Olah, E.; Olopade, O. I.; Solano, A. R.; Teo, S. H.; more...
    Human Mutation (2018)

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  • The BRCA2 c.68-7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicity
    Journal Article

    Colombo, M.; Lòpez-Perolio, I.; Meeks, H. D.; Caleca, L.; Parsons, M. T.; Li, H.; De Vecchi, G.; Tudini, E.; Foglia, C.; Mondini, P.; more...
    Human Mutation (2018)

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