Publications

Export 3 results:
Author Title [ Year(Asc)]
Filters: Keyword is Exons and Author is Gambin, Tomasz  [Clear All Filters]
2017
Gambin, T. et al. Identification of novel candidate disease genes from de novo exonic copy number variants. Genome Med 9, 83 (2017).
2016
Lalani, S. R. et al. Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations. Am J Hum Genet 98, 347-57 (2016).
2015
White, J. et al. DVL1 frameshift mutations clustering in the penultimate exon cause autosomal-dominant Robinow syndrome. Am J Hum Genet 96, 612-22 (2015).