Wojciech Wiszniewski

Associate Professor

  • 2531 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 2019, In : JCRPE Journal of Clinical Research in Pediatric Endocrinology. 11, 3, p. 319-326 8 p.

Research output: Contribution to journalArticle

Open Access
  • 2 Scopus citations

    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., Aug 1 2018, In : European Journal of Human Genetics. 26, 8, p. 1121-1131 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

  • 75 Scopus citations

    Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders

    Stray-Pedersen, A., Sorte, H. S., Samarakoon, P., Gambin, T., Chinn, I. K., Coban Akdemir, Z. H., Erichsen, H. C., Forbes, L. R., Gu, S., Yuan, B., Jhangiani, S. N., Muzny, D. M., Rødningen, O. K., Sheng, Y., Nicholas, S. K., Noroski, L. M., Seeborg, F. O., Davis, C. M., Canter, D. L., Mace, E. M. & 73 others, Vece, T. J., Allen, C. E., Abhyankar, H. A., Boone, P. M., Beck, C. R., Wiszniewski, W., Fevang, B., Aukrust, P., Tjønnfjord, G. E., Gedde-Dahl, T., Hjorth-Hansen, H., Dybedal, I., Nordøy, I., Jørgensen, S. F., Abrahamsen, T. G., Øverland, T., Bechensteen, A. G., Skogen, V., Osnes, L. T. N., Kulseth, M. A., Prescott, T. E., Rustad, C. F., Heimdal, K. R., Belmont, J. W., Rider, N. L., Chinen, J., Cao, T. N., Smith, E. A., Caldirola, M. S., Bezrodnik, L., Lugo Reyes, S. O., Espinosa Rosales, F. J., Guerrero-Cursaru, N. D., Pedroza, L. A., Poli, C. M., Franco, J. L., Trujillo Vargas, C. M., Aldave Becerra, J. C., Wright, N., Issekutz, T. B., Issekutz, A. C., Abbott, J., Caldwell, J. W., Bayer, D. K., Chan, A. Y., Aiuti, A., Cancrini, C., Holmberg, E., West, C., Burstedt, M., Karaca, E., Yesil, G., Artac, H., Bayram, Y., Atik, M. M., Eldomery, M. K., Ehlayel, M. S., Jolles, S., Flatø, B., Bertuch, A. A., Hanson, I. C., Zhang, V. W., Wong, L. J., Hu, J., Walkiewicz, M., Yang, Y., Eng, C. M., Boerwinkle, E., Gibbs, R. A., Shearer, W. T., Lyle, R., Orange, J. S. & Lupski, J. R., Jan 1 2017, In : Journal of Allergy and Clinical Immunology. 139, 1, p. 232-245 14 p.

    Research output: Contribution to journalArticle

  • 87 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, 1 p.

    Research output: Contribution to journalComment/debate

  • 4 Scopus citations