Wojciech Wiszniewski

Associate Professor

  • 2317 Citations
  • 25 h-Index
19972019
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Fingerprint Dive into the research topics where Wojciech Wiszniewski is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

  • 7 Similar Profiles
Mutation Medicine & Life Sciences
Exome Medicine & Life Sciences
Genes Medicine & Life Sciences
Phenotype Medicine & Life Sciences
Spinal Muscular Atrophy Medicine & Life Sciences
Alleles Medicine & Life Sciences
Hearing Loss Medicine & Life Sciences
Curcumin Medicine & Life Sciences

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Research Output 1997 2019

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
Congenital Generalized Lipodystrophy
Polyneuropathies
Mutation
1-Acylglycerol-3-Phosphate O-Acyltransferase
Dual (Psychiatry) Diagnosis
5 Citations (Scopus)

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

Malformations of Cortical Development
Nucleotides
Genes
Exome
Developmental Disabilities
64 Citations (Scopus)

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

Exome
Molecular Pathology
Research
Genetic Association Studies
Genes
3 Citations (Scopus)

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

Confusion
Congenital Heart Defects
Information Storage and Retrieval
Medical Genetics
Bradycardia
17 Citations (Scopus)

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

Muscle Hypotonia
Bradycardia
GTP-Binding Proteins
Mutation
Heart Rate