Joanna Wiszniewska

Associate Professor

  • 1571 Citations
  • 18 h-Index
20022017

Research output per year

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Research Output

  • 1571 Citations
  • 18 h-Index
  • 24 Article
  • 2 Chapter
  • 2 Comment/debate
  • 2 Letter
2002

Zasady diagnostyki molekularnej w przypadkach klinicznego podejrzenia prelingwalnej, izolowanej postaci głuchoty.

Translated title of the contribution: The principles of molecular diagnosis of recessive forms of prelingual non-syndromic hearing lossWiszniewska, J., Wiszniewski, W. & Bal, J., Jan 1 2002, In : Medycyna wieku rozwojowego. 6, 4, p. 309-318 10 p.

Research output: Contribution to journalArticle

5 Scopus citations
2005

Systemic lupus erythematosus and other autoimmune disorders in children with noonan syndrome [4]

Lopez-Rangel, E., Malleson, P. N., Lirenman, D. S., Roa, B., Wiszniewska, J. & Lewis, M. E. S., Dec 15 2005, In : American Journal of Medical Genetics. 139 A, 3, p. 239-242 4 p.

Research output: Contribution to journalLetter

15 Scopus citations
2008

Consensus characterization of 16 FMR1 reference materials: A consortium study

Wilson, J. A., Pratt, V. M., Phansalkar, A., Muralidharan, K., Highsmith, W. E., Beck, J. C., Bridgeman, S., Courtney, E. M., Epp, L., Ferreira-Gonzalez, A., Hjelm, N. L., Holtegaard, L. M., Jama, M. A., Jakupciak, J. P., Johnson, M. A., Labrousse, P., Lyon, E., Prior, T. W., Richards, C. S., Richie, K. L. & 16 others, Roa, B. B., Rohlfs, E. M., Sellers, T., Sherman, S. L., Siegrist, K. A., Silverman, L. M., Wiszniewska, J., Kalman, L. V., Bossler, A., Dillon, D., Dolan, M., Gastier-Foster, J., Jones, D., Sepulveda, A., Stellrecht, K. & Wolff, D. A., Jan 2008, In : Journal of Molecular Diagnostics. 10, 1, p. 2-12 11 p.

Research output: Contribution to journalArticle

34 Scopus citations

Duplication of chromosome band 12q24.11q24.23 results in apparent Noonan syndrome

Shchelochkov, O. A., Patel, A., Weissenberger, G. M., Chinault, A. C., Wiszniewska, J., Fernandes, P. H., Eng, C., Kukolich, M. K. & Sutton, V. R., Apr 15 2008, In : American Journal of Medical Genetics, Part A. 146, 8, p. 1042-1048 7 p.

Research output: Contribution to journalArticle

39 Scopus citations

Molecular diagnosis of Duchenne/Becker muscular dystrophy: Enhanced detection of dystrophin gene rearrangements by oligonucleotide array-comparative genomic hybridization

Del Gaudio, D., Yang, Y., Boggs, B. A., Schmitt, E. S., Lee, J. A., Sahoo, T., Pham, H. T., Wiszniewska, J., Chinault, A. C., Beaudet, A. L. & Eng, C. M., Sep 1 2008, In : Human mutation. 29, 9, p. 1100-1107 8 p.

Research output: Contribution to journalArticle

72 Scopus citations
2009

Genomic and Genic Deletions of the FOX Gene Cluster on 16q24.1 and Inactivating Mutations of FOXF1 Cause Alveolar Capillary Dysplasia and Other Malformations

Stankiewicz, P., Sen, P., Bhatt, S. S., Storer, M., Xia, Z., Bejjani, B. A., Ou, Z., Wiszniewska, J., Driscoll, D. J., Bolivar, J., Bauer, M., Zackai, E. H., McDonald-McGinn, D., Nowaczyk, M. M. J., Murray, M., Shaikh, T. H., Martin, V., Tyreman, M., Simonic, I., Willatt, L. & 12 others, Paterson, J., Mehta, S., Rajan, D., Fitzgerald, T., Gribble, S., Prigmore, E., Patel, A., Shaffer, L. G., Carter, N. P., Cheung, S. W., Langston, C. & Shaw-Smith, C., Jun 12 2009, In : American Journal of Human Genetics. 84, 6, p. 780-791 12 p.

Research output: Contribution to journalArticle

255 Scopus citations

Genomic and Genic Deletions of the FOX Gene Cluster on 16q24.1 and Inactivating Mutations of FOXF1 Cause Alveolar Capillary Dysplasia and Other Malformations (DOI:10.1016/j.ajhg.2009.05.005)

Stankiewicz, P., Sen, P., Bhatt, S. S., Storer, M., Xia, Z., Bejjani, B. A., Ou, Z., Wiszniewska, J., Driscoll, D. J., Maisenbacher, M. K., Bolivar, J., Bauer, M., Zackai, E. H., McDonald-McGinn, D., Nowaczyk, M. M. J., Murray, M., Hustead, V., Mascotti, K., Schultz, R., Hallam, L. & 24 others, McRae, D., Nicholson, A. G., Newbury, R., Durham-O'Donnell, J., Knight, G., Kini, U., Shaikh, T. H., Martin, V., Tyreman, M., Simonic, I., Willatt, L., Paterson, J., Mehta, S., Jones, C. W., Rajan, D., Fitzgerald, T., Gribble, S., Prigmore, E., Patel, A., Shaffer, L. G., Carter, N. P., Cheung, S. W., Langston, C. & Shaw-Smith, C., Oct 9 2009, In : American Journal of Human Genetics. 85, 4, 1 p.

Research output: Contribution to journalComment/debate

3 Scopus citations

Molecular characterization of a balanced rearrangement of chromosome 12 in two siblings with Noonan syndrome

Yatsenko, S. A., Torrado, M. D. V., Fernandes, P. H., Wiszniewska, J., Gallego, M., Herrera, J. & Bacino, C. A., Dec 1 2009, In : American Journal of Medical Genetics, Part A. 149, 12, p. 2723-2730 8 p.

Research output: Contribution to journalArticle

4 Scopus citations
2010

Detection of clinically relevant exonic copy-number changes by array CGH

Boone, P. M., Bacino, C. A., Shaw, C. A., Eng, P. A., Hixson, P. M., Pursley, A. N., Kang, S. H. L., Yang, Y., Wiszniewska, J., Nowakowska, B. A., Del Gaudio, D., Xia, Z., Simpson-Patel, G., Immken, L. D. L., Gibson, J. B., Tsai, A. C. H., Bowers, J. A., Reimschisel, T. E., Schaaf, C. P., Potocki, L. & 14 others, Scaglia, F., Gambin, T., Sykulski, M., Bartnik, M., Derwinska, K., Wisniowiecka-Kowalnik, B., Lalani, S. R., Probst, F. J., Bi, W., Beaudet, A. L., Patel, A., Lupski, J. R., Cheung, S. W. & Stankiewicz, P., Dec 1 2010, In : Human mutation. 31, 12, p. 1326-1342 17 p.

Research output: Contribution to journalArticle

183 Scopus citations

Molecular Genetic Testing for X-linked Mental Retardation Disorders

Roa, B. & Wiszniewska, J., Dec 1 2010, Molecular Diagnostics. Elsevier Inc., p. 167-176 10 p.

Research output: Chapter in Book/Report/Conference proceedingChapter

Structures and molecular mechanisms for common 15q13.3 microduplications involving CHRNA7: Benign or pathological?

Szafranski, P., Schaaf, C. P., Person, R. E., Gibson, I. B., Xia, Z., Mahadevan, S., Wiszniewska, J., Bacino, C. A., Lalani, S., Potocki, L., Kang, S. H., Patel, A., Cheung, S. W., Probst, F. J., Graham, B. H., Shinawi, M., Beaudet, A. L. & Stankiewicz, P., Jul 2010, In : Human mutation. 31, 7, p. 840-850 11 p.

Research output: Contribution to journalArticle

95 Scopus citations
2011

Chromosome catastrophes involve replication mechanisms generating complex genomic rearrangements

Liu, P., Erez, A., Nagamani, S. C. S., Dhar, S. U., Kołodziejska, K. E., Dharmadhikari, A. V., Cooper, M. L., Wiszniewska, J., Zhang, F., Withers, M. A., Bacino, C. A., Campos-Acevedo, L. D., Delgado, M. R., Freedenberg, D., Garnica, A., Grebe, T. A., Hernández-Almaguer, D., Immken, L., Lalani, S. R., McLean, S. D. & 11 others, Northrup, H., Scaglia, F., Strathearn, L., Trapane, P., Kang, S. H. L., Patel, A., Cheung, S. W., Hastings, P. J., Stankiewicz, P., Lupski, J. R. & Bi, W., Sep 16 2011, In : Cell. 146, 6, p. 889-903 15 p.

Research output: Contribution to journalArticle

266 Scopus citations

Copy number and SNP arrays in clinical diagnostics

Schaaf, C. P., Wiszniewska, J. & Beaudet, A. L., Jul 13 2011, In : Annual Review of Genomics and Human Genetics. 12, p. 25-51 27 p.

Research output: Contribution to journalArticle

111 Scopus citations

Copy number gain at Xp22.31 includes complex duplication rearrangements and recurrent triplications

Liu, P., Erez, A., Nagamani, S. C. S., Bi, W., Carvalho, C. M. B., Simmons, A. D., Wiszniewska, J., Fang, P., Eng, P. A., Cooper, M. L., Sutton, V. R., Roeder, E. R., Bodensteiner, J. B., Delgado, M. R., Prakash, S. K., Belmont, J. W., Stankiewicz, P., Berg, J. S., Shinawi, M., Patel, A. & 2 others, Cheung, S. W. & Lupski, J. R., May 2011, In : Human molecular genetics. 20, 10, p. 1975-1988 14 p., ddr078.

Research output: Contribution to journalArticle

51 Scopus citations

Deoxyguanosine kinase deficiency presenting as neonatal hemochromatosis

Hanchard, N. A., Shchelochkov, O. A., Roy, A., Wiszniewska, J., Wang, J., Popek, E. J., Karpen, S., Wong, L. J. C. & Scaglia, F., Jul 1 2011, In : Molecular Genetics and Metabolism. 103, 3, p. 262-267 6 p.

Research output: Contribution to journalArticle

28 Scopus citations

Detection of uniparental isodisomy in autosomal recessive mitochondrial DNA depletion syndrome by high-density SNP array analysis

Douglas, G. V., Wiszniewska, J., Lipson, M. H., Witt, D. R., McDowell, T., Sifry-Platt, M., Hirano, M., Craigen, W. J. & Wong, L. J. C., Dec 21 2011, In : Journal of Human Genetics. 56, 12, p. 834-839 6 p.

Research output: Contribution to journalArticle

13 Scopus citations

Erratum: Identifi cation of incestuous parental relationships by SNP-based DNA microarrays (Lancet (2011) 377 (555-556))

Schaaf, C. P., Scott, D. A., Wiszniewska, J. & Beaudet, A. L., Mar 5 2011, In : The Lancet. 377, 9768, 1 p.

Research output: Contribution to journalComment/debate

Exon deletions of the EP300 and CREBBP genes in two children with Rubinstein-Taybi syndrome detected by aCGH

Tsai, A., J Dossett, C., Walton, C. S., E Cramer, A., Eng, P. A., Nowakowska, B. A., Pursley, A. N., Stankiewicz, P., Wiszniewska, J. & Cheung, S. W., 2011, In : European Journal of Human Genetics. 19, 1, p. 43-49 7 p.

Research output: Contribution to journalArticle

40 Scopus citations

Identification of incestuous parental relationships by SNP-based DNA microarrays

Schaaf, C., Scott, D., Wiszniewska, J. & Beaudet, A., Feb 12 2011, In : The Lancet. 377, 9765, p. 555-556 2 p.

Research output: Contribution to journalLetter

44 Scopus citations

Observation and prediction of recurrent human translocations mediated by NAHR between nonhomologous chromosomes

Ou, Z., Stankiewicz, P., Xia, Z., Breman, A. M., Dawson, B., Wiszniewska, J., Szafranski, P., Cooper, M. L., Rao, M., Shao, L., South, S. T., Coleman, K., Fernhoff, P. M., Deray, M. J., Rosengren, S., Roeder, E. R., Enciso, V. B., Chinault, A. C., Patel, A., Kang, S. H. L. & 3 others, Shaw, C. A., Lupski, J. R. & Cheung, S. W., Jan 2011, In : Genome Research. 21, 1, p. 33-46 14 p.

Research output: Contribution to journalArticle

59 Scopus citations

Olfactory copy number association with age at onset of Alzheimer disease

Shaw, C. A., Li, Y., Wiszniewska, J., Chasse, S., Zaidi, S. N. Y., Jin, W., Dawson, B., Wilhelmsen, K., Lupski, J. R., Belmont, J. W., Doody, R. S. & Szigeti, K., Apr 12 2011, In : Neurology. 76, 15, p. 1302-1309 8 p.

Research output: Contribution to journalArticle

30 Scopus citations
2012

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

Deletions in chromosome 6p22.3-p24.3, including ATXN1, are associated with developmental delay and autism spectrum disorders

Celestino-Soper, P. B., Skinner, C., Schroer, R., Eng, P., Shenai, J., Nowaczyk, M. M. J., Terespolsky, D., Cushing, D., Patel, G. S., Immken, L., Willis, A., Wiszniewska, J., Matalon, R., Rosenfeld, J. A., Stevenson, R. E., Kang, S. H. L., Cheung, S. W., Beaudet, A. L. & Stankiewicz, P., Apr 6 2012, In : Molecular Cytogenetics. 5, 1, 17.

Research output: Contribution to journalArticle

23 Scopus citations

De novo interstitial duplication of 15q11.2-q13.1 with complex maternal uniparental trisomy for the 15q11-q13 region in a patient with Prader-Willi syndrome

Burrage, L. C., Person, R. E., Flores, A., Villanos, M. T. M., Bi, W., Wiszniewska, J. & Bacino, C. A., Oct 1 2012, In : American Journal of Medical Genetics, Part A. 158 A, 10, p. 2557-2563 7 p.

Research output: Contribution to journalArticle

2 Scopus citations

Molecular prenatal diagnostic testing

Wiszniewska, J. & Eng, C. M., Jul 1 2012, Modern Clinical Molecular Techniques. Springer New York, Vol. 9781461421702. p. 351-361 11 p.

Research output: Chapter in Book/Report/Conference proceedingChapter

WDR62 missense mutation in a consanguineous family with primary microcephaly

Bacino, C. A., Arriola, L. A., Wiszniewska, J. & Bonnen, P. E., Mar 1 2012, In : American Journal of Medical Genetics, Part A. 158 A, 3, p. 622-625 4 p.

Research output: Contribution to journalArticle

9 Scopus citations
2014

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
2016
5 Scopus citations
2017

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