Wojciech Wiszniewski

Associate Professor

  • 2404 Citations
  • 25 h-Index
19972019

Research output per year

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Research Output

A Patient with Berardinelli-Seip Syndrome, Novel AGPAT2 Splicesite Mutation and Concomitant Development of Non-diabetic Polyneuropathy

Oswiecimska, J., Dawidziuk, M., Gambin, T., Ziora, K., Marek, M., Rzonca, S., Guilbride, D. L., Jhangiani, S. N., Obuchowicz, A., Sikora, A., Lupski, J. R., Wiszniewski, W. & Gawlinski, P., Sep 3 2019, In : Journal of clinical research in pediatric endocrinology. 11, 3, p. 319-326 8 p.

Research output: Contribution to journalArticle

Open Access
  • Comprehensive genomic analysis of patients with disorders of cerebral cortical development

    Wiszniewski, W., Gawlinski, P., Gambin, T., Bekiesinska-Figatowska, M., Obersztyn, E., Antczak-Marach, D., Akdemir, Z. H. C., Harel, T., Karaca, E., Jurek, M., Sobecka, K., Nowakowska, B., Kruk, M., Terczynska, I., Goszczanska-Ciuchta, A., Rudzka-Dybala, M., Jamroz, E., Pyrkosz, A., Jakubiuk-Tomaszuk, A., Iwanowski, P. & 17 others, Gieruszczak-Bialek, D., Piotrowicz, M., Sasiadek, M., Kochanowska, I., Gurda, B., Steinborn, B., Dawidziuk, M., Castaneda, J., Wlasienko, P., Bezniakow, N., Jhangiani, S. N., Hoffman-Zacharska, D., Bal, J., Szczepanik, E., Boerwinkle, E., Gibbs, R. A. & Lupski, J. R., Apr 30 2018, (Accepted/In press) In : European Journal of Human Genetics. p. 1-11 11 p.

    Research output: Contribution to journalArticle

  • 5 Scopus citations

    Lessons learned from additional research analyses of unsolved clinical exome cases

    Eldomery, M. K., Coban-Akdemir, Z., Harel, T., Rosenfeld, J. A., Gambin, T., Stray-Pedersen, A., Küry, S., Mercier, S., Lessel, D., Denecke, J., Wiszniewski, W., Penney, S., Liu, P., Bi, W., Lalani, S. R., Schaaf, C. P., Wangler, M. F., Bacino, C. A., Lewis, R. A., Potocki, L. & 19 others, Graham, B. H., Belmont, J. W., Scaglia, F., Orange, J. S., Jhangiani, S. N., Chiang, T., Doddapaneni, H., Hu, J., Muzny, D. M., Xia, F., Beaudet, A. L., Boerwinkle, E., Eng, C. M., Plon, S. E., Sutton, V. R., Gibbs, R. A., Posey, J. E., Yang, Y. & Lupski, J. R., Mar 21 2017, In : Genome Medicine. 9, 1, 26.

    Research output: Contribution to journalArticle

  • 69 Scopus citations

    Erratum: GNB5 Mutations Cause an Autosomal-Recessive Multisystem Syndrome with Sinus Bradycardia and Cognitive Disability (American Journal of Human Genetics (2016) 99(3) (704–710)(S0002929716302294)(10.1016/j.ajhg.2016.06.025))

    Lodder, E. M., De Nittis, P., Koopman, C. D., Wiszniewski, W., Moura de Souza, C. F., Lahrouchi, N., Guex, N., Napolioni, V., Tessadori, F., Beekman, L., Nannenberg, E. A., Boualla, L., Blom, N. A., de Graaff, W., Kamermans, M., Cocciadiferro, D., Malerba, N., Mandriani, B., Coban Akdemir, Z. H., Fish, R. J. & 13 others, Eldomery, M. K., Ratbi, I., Wilde, A. A. M., de Boer, T., Simonds, W. F., Neerman-Arbez, M., Sutton, V. R., Kok, F., Lupski, J. R., Reymond, A., Bezzina, C. R., Bakkers, J. & Merla, G., Sep 1 2016, In : American Journal of Human Genetics. 99, 3, p. 786 1 p.

    Research output: Contribution to journalComment/debate

  • 3 Scopus citations

    GNB5 Mutations Cause an Autosomal-Recessive Multisystem Syndrome with Sinus Bradycardia and Cognitive Disability

    Lodder, E. M., De Nittis, P., Koopman, C. D., Wiszniewski, W., Moura de Souza, C. F., Lahrouchi, N., Guex, N., Napolioni, V., Tessadori, F., Beekman, L., Nannenberg, E. A., Boualla, L., Blom, N. A., de Graaff, W., Kamermans, M., Cocciadiferro, D., Malerba, N., Mandriani, B., Akdemir, Z. H. C., Fish, R. J. & 13 others, Eldomery, M. K., Ratbi, I., Wilde, A. A. M., de Boer, T., Simonds, W. F., Neerman-Arbez, M., Sutton, V. R., Kok, F., Lupski, J. R., Reymond, A., Bezzina, C. R., Bakkers, J. & Merla, G., May 18 2016, (Accepted/In press) In : American Journal of Human Genetics.

    Research output: Contribution to journalArticle

  • 17 Scopus citations