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Items: 3

1.
Co‐occurrence of schwannomatosis and rhabdoid tumor predisposition syndrome 1
Hildegard Kehrer‐Sawatzki, Uwe Kordes, Simone Seiffert, Anna Summerer, Christian Hagel, Ulrich Schüller, Said Farschtschi, Reinhard Schneppenheim, Martin Bendszus, Tim Godel, Victor‐Felix Mautner
Mol Genet Genomic Med. 2018 Jul; 6(4): 627–637. Published online 2018 May 20. doi: 10.1002/mgg3.412
PMCID:
PMC6081224
AbstractArticlePDF–2.8M
2.
Secondary Variants in Individuals Undergoing Exome Sequencing: Screening of 572 Individuals Identifies High-Penetrance Mutations in Cancer-Susceptibility Genes
Jennifer J. Johnston, Wendy S. Rubinstein, Flavia M. Facio, David Ng, Larry N. Singh, Jamie K. Teer, James C. Mullikin, Leslie G. Biesecker
Am J Hum Genet. 2012 Jul 13; 91(1): 97–108. doi: 10.1016/j.ajhg.2012.05.021
PMCID:
PMC3397257
AbstractArticlePDF–506K
3.
SMARCB1/INI1 germline mutations contribute to 10% of sporadic schwannomatosis
Guillaume Rousseau, Tetsuro Noguchi, Violaine Bourdon, Hagay Sobol, Sylviane Olschwang
BMC Neurol. 2011; 11: 9. Published online 2011 Jan 24. doi: 10.1186/1471-2377-11-9
PMCID:
PMC3037869
AbstractArticlePDF–178K

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