Research output per year
Research output per year
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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.
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Collaborations and top research areas from the last five years
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Biallelic variants in CSMD1 are implicated in a neurodevelopmental disorder with intellectual disability and variable cortical malformations
Werren, E. A., Peirent, E. R., Jantti, H., Guxholli, A., Srivastava, K. R., Orenstein, N., Narayanan, V., Wiszniewski, W., Dawidziuk, M., Gawlinski, P., Umair, M., Khan, A., Khan, S. N., Geneviève, D., Lehalle, D., van Gassen, K. L. I., Giltay, J. C., Oegema, R., van Jaarsveld, R. H. & Rafiullah, R. & 10 others, , May 2024, In: Cell Death and Disease. 15, 5, 379.Research output: Contribution to journal › Article › peer-review
Open Access7 Scopus citations -
Practice Patterns and Barriers to Vascular Genetic Testing Among Vascular Surgeons
Dittman, J. M., Prakash, S. K., Gupta, P. C., Wiszniewski, W., Singh, N., Smeds, M. R. & Shalhub, S., Aug 2024, In: Annals of Vascular Surgery. 105, p. 140-149 10 p.Research output: Contribution to journal › Article › peer-review
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Structural variant allelic heterogeneity in MECP2 duplication syndrome provides insight into clinical severity and variability of disease expression
Pehlivan, D., Bengtsson, J. D., Bajikar, S. S., Grochowski, C. M., Lun, M. Y., Gandhi, M., Jolly, A., Trostle, A. J., Harris, H. K., Suter, B., Aras, S., Ramocki, M. B., Du, H., Mehaffey, M. G., Park, K. H., Wilkey, E., Karakas, C., Eisfeldt, J. J., Pettersson, M. & Liu, L. & 23 others, , Dec 2024, In: Genome Medicine. 16, 1, 146.Research output: Contribution to journal › Article › peer-review
Open Access1 Scopus citations -
Congenital coenzyme Q5-linked pathology: causal genetic association, core phenotype, and molecular mechanism
Dawidziuk, M., Podwysocka, A., Jurek, M., Obersztyn, E., Bekiesinska-Figatowska, M., Goszczanska-Ciuchta, A., Bukowska-Olech, E., Rygiel, A. M., Guilbride, D. L., Wiszniewski, W. & Gawlinski, P., Sep 2023, In: Journal of Applied Genetics. 64, 3, p. 507-514 8 p.Research output: Contribution to journal › Article › peer-review
Open Access2 Scopus citations -
Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease
Undiagnosed Diseases Network, Aug 3 2023, In: American Journal of Human Genetics. 110, 8, p. 1394-1413 20 p.Research output: Contribution to journal › Article › peer-review
Open Access14 Scopus citations