• 820 Citations
1987 …2020

Research output per year

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Personal profile

Research interests

My interests include genotype-phenotype correlations, clinical laboratory genetics, dysmorphology, biochemical genetics, and the development of new methods, platforms, or tools for genetic diagnosis.

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Research Output

  • 820 Citations
  • 29 Article
  • 1 Review article

Tumor mutation burden and checkpoint immunotherapy markers in primary and metastatic synovial sarcoma

He, M., Abro, B., Kaushal, M., Chen, L., Chen, T., Gondim, M., Yan, W., Neidich, J., Dehner, L. P. & Pfeifer, J. D., Jun 2020, In : Human Pathology. 100, p. 15-23 9 p.

Research output: Contribution to journalArticle

  • Utility of copy number variants in the classification of intracranial ependymoma

    Evenson, M., Cai, C., Hucthagowder, V., McNulty, S., Neidich, J., Kulkarni, S. & Dahiya, S., Jan 2020, In : Cancer Genetics. 240, p. 66-72 7 p.

    Research output: Contribution to journalArticle

  • Diagnostic Utility of Next-Generation Sequencing for Disorders of Somatic Mosaicism: A Five-Year Cumulative Cohort

    McNulty, S. N., Evenson, M. J., Corliss, M. M., Love-Gregory, L. D., Schroeder, M. C., Cao, Y., Lee, Y. S., Drolet, B. A., Neidich, J. A., Cottrell, C. E. & Heusel, J. W., Oct 3 2019, In : American journal of human genetics. 105, 4, p. 734-746 13 p.

    Research output: Contribution to journalArticle

  • 3 Scopus citations

    First description of a double heterozygosity for BRCA1 and BRCA2 pathogenic variants in a French metastatic breast cancer patient: A case report

    Meynard, G., Mansi, L., Lebahar, P., Villanueva, C., Klajer, E., Calcagno, F., Vivalta, A., Chaix, M., Collonge-Rame, M. A., Populaire, C., Algros, M. P., Colpart, P., Neidich, J., Pivot, X. & Curtit, E., Mar 2017, In : Oncology reports. 37, 3, p. 1573-1578 6 p.

    Research output: Contribution to journalArticle

    Open Access
  • 3 Scopus citations

    Clinical application of whole-exome sequencing across clinical indications

    Retterer, K., Juusola, J., Cho, M. T., Vitazka, P., Millan, F., Gibellini, F., Vertino-Bell, A., Smaoui, N., Neidich, J., Monaghan, K. G., McKnight, D., Bai, R., Suchy, S., Friedman, B., Tahiliani, J., Pineda-Alvarez, D., Richard, G., Brandt, T., Haverfield, E., Chung, W. K. & 1 others, Bale, S., Jul 1 2016, In : Genetics in Medicine. 18, 7, p. 696-704 9 p.

    Research output: Contribution to journalArticle

    Open Access
  • 314 Scopus citations