Joanna Wiszniewska

Associate Professor

  • 1571 Citations
  • 18 h-Index

Research output per year

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Research Output

  • 1571 Citations
  • 18 h-Index
  • 24 Article
  • 2 Chapter
  • 2 Comment/debate
  • 2 Letter

An Organismal CNV Mutator Phenotype Restricted to Early Human Development

Liu, P., Yuan, B., Carvalho, C. M. B., Wuster, A., Walter, K., Zhang, L., Gambin, T., Chong, Z., Campbell, I. M., Coban Akdemir, Z., Gelowani, V., Writzl, K., Bacino, C. A., Lindsay, S. J., Withers, M., Gonzaga-Jauregui, C., Wiszniewska, J., Scull, J., Stankiewicz, P., Jhangiani, S. N. & 12 others, Muzny, D. M., Zhang, F., Chen, K., Gibbs, R. A., Rautenstrauss, B., Cheung, S. W., Smith, J., Breman, A., Shaw, C. A., Patel, A., Hurles, M. E. & Lupski, J. R., Feb 23 2017, In : Cell. 168, 5, p. 830-842.e7

Research output: Contribution to journalArticle

  • 30 Scopus citations
  • 5 Scopus citations

    Combined array CGH plus SNP genome analyses in a single assay for optimized clinical testing

    Wiszniewska, J., Bi, W., Shaw, C., Stankiewicz, P., Kang, S. H. L., Pursley, A. N., Lalani, S., Hixson, P., Gambin, T., Tsai, C. H., Bock, H. G., Descartes, M., Probst, F. J., Scaglia, F., Beaudet, A. L., Lupski, J. R., Eng, C., Wai Cheung, S., Bacino, C. & Patel, A., Jan 1 2014, In : European Journal of Human Genetics. 22, 1, p. 79-87 9 p.

    Research output: Contribution to journalArticle

  • 75 Scopus citations

    The genetic basis of DOORS syndrome: An exome-sequencing study

    Campeau, P. M., Kasperaviciute, D., Lu, J. T., Burrage, L. C., Kim, C., Hori, M., Powell, B. R., Stewart, F., Félix, T. M., van den Ende, J., Wisniewska, M., Kayserili, H., Rump, P., Nampoothiri, S., Aftimos, S., Mey, A., Nair, L. D. V., Begleiter, M. L., De Bie, I., Meenakshi, G. & 21 others, Murray, M. L., Repetto, G. M., Golabi, M., Blair, E., Male, A., Giuliano, F., Kariminejad, A., Newman, W. G., Bhaskar, S. S., Dickerson, J. E., Kerr, B., Banka, S., Giltay, J. C., Wieczorek, D., Tostevin, A., Wiszniewska, J., Cheung, S. W., Hennekam, R. C., Gibbs, R. A., Lee, B. H. & Sisodiya, S. M., Jan 2014, In : The Lancet Neurology. 13, 1, p. 44-58 15 p.

    Research output: Contribution to journalArticle

  • 72 Scopus citations

    Co-occurrence of recurrent duplications of the digeorge syndrome region on both chromosome 22 homologues due to inherited and de novo events

    Bi, W., Probst, F. J., Wiszniewska, J., Plunkett, K., Roney, E. K., Carter, B. S., Williams, M. D., Stankiewicz, P., Patel, A., Stevens, C. A., Lupski, J. R. & Cheung, S. W., Nov 2012, In : Journal of medical genetics. 49, 11, p. 681-688 8 p.

    Research output: Contribution to journalArticle

  • 8 Scopus citations