Boczek, Nicole J.

Bi-allelic alterations in AEBP1 lead to defective collagen assembly and connective tissue structure resulting in a variant of Ehlers-Danlos syndrome

Blackburn, P. R., Xu, Z., Tumelty, K. E., Zhao, R. W., Monis, W. J., Harris, K. G., Gass, J. M., Cousin, M. A., Boczek, N. J., Mitkov, M. V., et al. (2018) · The American Journal of Human Genetics

Connective tissue disorders researchDermatological and Skeletal Disorders

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Whole exome sequencing and heterologous cellular electrophysiology studies elucidate a novel loss-of-function mutation in the CACNA1A-encoded neuronal P/Q-type calcium channel in a child with congenital hypotonia and developmental delay

Weyhrauch, D. L., Ye, D., Boczek, N. J., Tester, D. J., Gavrilova, R. H., Patterson, M. C., Wieben, E. D., & Ackerman, M. J. (2016) · Pediatric Neurology

Ion channel regulation and functionGenomics and Rare Diseases

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