Expanding the mutational spectrum of LZTR1 in schwannomatosis

Update from the 2011 International Schwannomatosis Workshop: From genetics to diagnostic criteria

(2013) Scott R. Plotkin et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

The integrated landscape of driver genomic alterations in glioblastoma

(2013) Veronique Frattini et al.   NATURE GENETICS

Germline loss-of-function mutations in LZTR1 predispose to an inherited disorder of multiple schwannomas

(2013) Arkadiusz Piotrowski et al.   NATURE GENETICS

Analysis Tool Web Services from the EMBL-EBI

(2013) Hamish McWilliam et al.   NUCLEIC ACIDS RESEARCH

SWI/SNF Chromatin-remodeling Factors: Multiscale Analyses and Diverse Functions

(2012) Ghia Euskirchen et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Frequency of SMARCB1 mutations in familial and sporadic schwannomatosis

(2012) Miriam J. Smith et al.   NEUROGENETICS

SMARCB1/INI1 germline mutations contribute to 10% of sporadic schwannomatosis

(2011) Guillaume Rousseau et al.   BMC Neurology

A framework for variation discovery and genotyping using next-generation DNA sequencing data

(2011) Mark A DePristo et al.   NATURE GENETICS

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

(2010) A. McKenna et al.   GENOME RESEARCH

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

MutationTaster evaluates disease-causing potential of sequence alterations

(2010) Jana Marie Schwarz et al.   NATURE METHODS

A new bioinformatics analysis tools framework at EMBL-EBI

(2010) M. Goujon et al.   NUCLEIC ACIDS RESEARCH

Alterations in the SMARCB1 (INI1) tumor suppressor gene in familial schwannomatosis

(2009) C Boyd et al.   CLINICAL GENETICS

Human Splicing Finder: an online bioinformatics tool to predict splicing signals

(2009) François-Olivier Desmet et al.   NUCLEIC ACIDS RESEARCH

High-resolution DNA melting analysis: advancements and limitations

(2008) Carl T. Wittwer   HUMAN MUTATION

Evidence of a four-hit mechanism involvingSMARCB1andNF2in schwannomatosis-associated schwannomas

(2007) Roberta Sestini et al.   HUMAN MUTATION