Joanna Wiszniewska

Associate Professor

  • 1491 Citations
  • 18 h-Index
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Fingerprint Dive into the research topics where Joanna Wiszniewska is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

  • 4 Similar Profiles
Comparative Genomic Hybridization Medicine & Life Sciences
Mutation Medicine & Life Sciences
Noonan Syndrome Medicine & Life Sciences
Single Nucleotide Polymorphism Medicine & Life Sciences
Genes Medicine & Life Sciences
Phenotype Medicine & Life Sciences
Homologous Recombination Medicine & Life Sciences
Chromosomes Medicine & Life Sciences

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Research Output 2002 2017

  • 1491 Citations
  • 18 h-Index
  • 24 Article
  • 2 Chapter
  • 2 Comment/debate
  • 2 Letter
23 Citations (Scopus)

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

Human Development
Genomic Structural Variation
4 Citations (Scopus)
Proto-Oncogene Proteins c-sis
Subcutaneous Fat
70 Citations (Scopus)

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, A., 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 2014, In : European Journal of Human Genetics. 22, 1, p. 79-87 9 p.

Research output: Contribution to journalArticle

Comparative Genomic Hybridization
Single Nucleotide Polymorphism
Inborn Genetic Diseases
68 Citations (Scopus)

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 1 2014, In : The Lancet Neurology. 13, 1, p. 44-58 15 p.

Research output: Contribution to journalArticle

Intellectual Disability
8 Citations (Scopus)

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 1 2012, In : Journal of Medical Genetics. 49, 11, p. 681-688 8 p.

Research output: Contribution to journalArticle

DiGeorge Syndrome
Chromosomes, Human, Pair 22
Genomic Segmental Duplications