Human Mutation

Published by: Wiley Liss  

People

  1. Offit
    Offit
  2. Birsoy
    Birsoy
  3. Chakravarty
    Chakravarty
  4. Joseph
    Joseph
  5. Kemel
    Kemel
  6. Mandelker
    Mandelker
  7. Robson
    Robson
  8. Walsh
    Walsh

Groups

  1. Clinical Genetics Service (3)
  2. Department of Medicine (3)
  3. GSK Faculty (3)
  4. Population Sciences Research Program (3)
  5. Solid Tumor Oncology Division (3)
  6. Survivorship Research (3)
  7. Breast Medicine Service (1)
  8. General Oncology Service (1)
  9. Pediatrics, Department of (1)
  10. Sloan Kettering Institute Postdocs (1)
Search Within
  1. "2018"
Formats
  1. Journal Article (6)
Groups
  1. Clinical Genetics Service (3)
  2. Department of Medicine (3)
  3. GSK Faculty (3)
  4. Population Sciences Research Program (3)
  5. Solid Tumor Oncology Division (3)
  6. Survivorship Research (3)

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People
  1. Kenneth Offit (3)
  2. Liying Zhang (3)
  3. Ozge Birsoy (2)
  4. Debyani Chakravarty (1)
  5. Diana Mandelker (1)
  6. Jacob Musinsky (1)

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Years
  1. 2018 (6)
Publishers
  1. Wiley Liss (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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  • 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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  • 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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  • 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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    • Human Mutation – authorized name for:

    Name ISSN / ISBN Publisher
    Human Mutation 1059-7794 Wiley Blackwell
    Human Mutation 1059-7794 Wiley Hindawi
    Human Mutation 10597794 Wiley Periodicals LLC
    Human Mutation 10597794 Wiley Liss
    Human Mutation 1059-7794 Wiley Blackwell
    Human Mutation 1059-7794 Unknown
    Human Mutation 1059-7794 Wiley Liss
    Human Mutation 1059-7794 Wiley Liss, Inc
    Human Mutation 10597794 Unknown
    Human Mutation 10597794 Wiley Periodicals, Inc