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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Projects
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Genome analysis to elucidate molecular mechanisms for peripheral neuropathies
Project: Research project
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Genome analysis to elucidate molecular mechanisms for peripheral neuropathies
Project: Research project
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Centers for Mendelian Genomics: A decade of facilitating gene discovery
Centers for Mendelian Genomics Consortium, Apr 2022, In: Genetics in Medicine. 24, 4, p. 784-797 14 p.Research output: Contribution to journal › Review article › peer-review
Open Access15 Scopus citations -
EMILIN1 deficiency causes arterial tortuosity with osteopenia and connects impaired elastogenesis with defective collagen fibrillogenesis
Adamo, C. S., Beyens, A., Schiavinato, A., Keene, D. R., Tufa, S. F., Mörgelin, M., Brinckmann, J., Sasaki, T., Niehoff, A., Dreiner, M., Pottie, L., Muiño-Mosquera, L., Gulec, E. Y., Gezdirici, A., Braghetta, P., Bonaldo, P., Wagener, R., Paulsson, M., Bornaun, H., De Rycke, R., & 20 others, Dec 1 2022, In: American Journal of Human Genetics. 109, 12, p. 2230-2252 23 p.Research output: Contribution to journal › Article › peer-review
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Pathogenic missense variants altering codon 336 of GARS1 lead to divergent dominant phenotypes
Meyer, A. P., Forrest, M. E., Nicolau, S., Wiszniewski, W., Bland, M. P., Tsao, C. Y., Antonellis, A. & Abreu, N. J., Jul 2022, In: Human mutation. 43, 7, p. 869-876 8 p.Research output: Contribution to journal › Article › peer-review
Open Access1 Scopus citations -
Exome sequencing reveals novel variants and expands the genetic landscape for congenital microcephaly
Dawidziuk, M., Gambin, T., Bukowska-Olech, E., Antczak-Marach, D., Badura-Stronka, M., Buda, P., Budzynska, E., Castaneda, J., Chilarska, T., Czyzyk, E., Eckersdorf-Mastalerz, A., Fijak-Moskal, J., Gieruszczak-Bialek, D., Glodek-Brzozowska, E., Goszczanska-Ciuchta, A., Grzeszykowska-Podymniak, M., Gurda, B., Jakubiuk-Tomaszuk, A., Jamroz, E., Janeczko, M., & 27 others, Dec 2021, In: Genes. 12, 12, 2014.Research output: Contribution to journal › Article › peer-review
Open Access2 Scopus citations -
Further delineation of phenotype and genotype of primary microcephaly syndrome with cortical malformations associated with mutations in the wdr62 gene
Slezak, R., Smigiel, R., Obersztyn, E., Pollak, A., Dawidziuk, M., Wiszniewski, W., Bekiesinska-Figatowska, M., Rydzanicz, M., Ploski, R. & Gawlinski, P., Apr 2021, In: Genes. 12, 4, 594.Research output: Contribution to journal › Article › peer-review
Open Access4 Scopus citations