RNA-based analysis of two SMARCB1 mutations associated with familial schwannomatosis with meningiomas

Evidence for the widespread coupling of alternative splicing and nonsense-mediated mRNA decay in humans

Benjamin P. Lewis, Richard E. Green, Steven E. Brenner · Proceedings of the National Academy of Sciences · 2002 · 1.1K citations · Full text

Engineering, Genetics, Rna Splicing +18

Constitutional Mutations of the hSNF5/INI1 Gene Predispose to a Variety of Cancers

Nicolas Sévenet, Eammon Sheridan, Daniel Amram et al. · The American Journal of Human Genetics · 1999 · 446 citations · Full text

Tumor Biology, Constitutional Mutations, Somatic Variant +10

Germline Mutation of INI1/SMARCB1 in Familial Schwannomatosis

Theo J.M. Hulsebos, Astrid S. Plomp, Ruud A. Wolterman et al. · The American Journal of Human Genetics · 2007 · 398 citations · Full text

Mendelian Disorder, Genetic Disorder, Medicine +7

Spectrum of <i>SMARCB1/INI1</i> mutations in familial and sporadic rhabdoid tumors

Katherine W. Eaton, Laura Tooke, Luanne Wainwright et al. · Pediatric Blood & Cancer · 2010 · 369 citations · Full text

Molecular characterisation of <i>SMARCB1</i> and <i>NF2</i> in familial and sporadic schwannomatosis

Kristin Hadfield, William G. Newman, Naomi L. Bowers et al. · Journal of Medical Genetics · 2008 · 204 citations