Joanna Wiszniewska

Associate Professor

  • 1458 Citations
  • 18 h-Index
20022017
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  • 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

  • 1458 Citations
  • 18 h-Index
  • 24 Article
  • 2 Chapter
  • 2 Comment/debate
  • 2 Letter
18 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
Phenotype
Mutagenesis
Genomic Structural Variation
Neoplasms
4 Citations (Scopus)
Dermatofibrosarcoma
Vulva
Proto-Oncogene Proteins c-sis
Neurofibroma
Subcutaneous Fat
68 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
Genome
Exons
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

Exome
Seizures
Mutation
Deafness
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
Tetrasomy
Chromosomes
Genomic Segmental Duplications