Publications

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Author Title [ Year(Desc)]
Filters: Author is Wiszniewski, Wojciech and Keyword is Exome  [Clear All Filters]
2014
Bayram, Y. et al. Whole exome sequencing identifies three novel mutations in ANTXR1 in families with GAPO syndrome. Am J Med Genet A 164A, 2328-34 (2014).
2015
Gonzaga-Jauregui, C. et al. Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy. Cell Rep 12, 1169-83 (2015).
2016
Posey, J. E. et al. Molecular diagnostic experience of whole-exome sequencing in adult patients. Genet Med 18, 678-85 (2016).
Pehlivan, D. et al. The role of combined SNV and CNV burden in patients with distal symmetric polyneuropathy. Genet Med 18, 443-51 (2016).
2017
Eldomery, M. K. et al. Lessons learned from additional research analyses of unsolved clinical exome cases. Genome Med 9, 26 (2017).
2018
Wiszniewski, W. et al. Comprehensive genomic analysis of patients with disorders of cerebral cortical development. Eur J Hum Genet 26, 1121-1131 (2018).