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

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

Structural Basis for Cul3 Protein Assembly with the BTB-Kelch Family of E3 Ubiquitin Ligases

(2013) Peter Canning et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

The integrated landscape of driver genomic alterations in glioblastoma

(2013) Veronique Frattini et al.   NATURE GENETICS

The novel BTB-kelch protein, KBTBD8, is located in the Golgi apparatus and translocates to the spindle apparatus during mitosis

(2013) Sandra Lührig et al.   Cell Division

Familial Breast Cancer

(2012) F Lalloo et al.   CLINICAL GENETICS

An integrated map of genetic variation from 1,092 human genomes

(2012)   NATURE

Frequency of SMARCB1 mutations in familial and sporadic schwannomatosis

(2012) Miriam J. Smith et al.   NEUROGENETICS

Evolution and Functional Impact of Rare Coding Variation from Deep Sequencing of Human Exomes

(2012) J. A. Tennessen et al.   SCIENCE

Adaptor Protein Self-Assembly Drives the Control of a Cullin-RING Ubiquitin Ligase

(2012) Wesley J. Errington et al.   STRUCTURE

Vestibular schwannomas occur in schwannomatosis and should not be considered an exclusion criterion for clinical diagnosis

(2011) Miriam J. Smith et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

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

(2011) Guillaume Rousseau et al.   BMC Neurology

AR42, a novel histone deacetylase inhibitor, as a potential therapy for vestibular schwannomas and meningiomas

(2011) M. L. Bush et al.   NEURO-ONCOLOGY

SVDetect: a tool to identify genomic structural variations from paired-end and mate-pair sequencing data

(2010) Bruno Zeitouni et al.   BIOINFORMATICS

Dynamics of Cullin-RING Ubiquitin Ligase Network Revealed by Systematic Quantitative Proteomics

(2010) Eric J. Bennett et al.   CELL

An Atlas of Combinatorial Transcriptional Regulation in Mouse and Man

(2010) Timothy Ravasi et al.   CELL

Current clinical criteria for Lynch syndrome are not sensitive enough to identify MSH6 mutation carriers

(2010) W. Sjursen et al.   JOURNAL OF MEDICAL GENETICS

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

CDD: a Conserved Domain Database for the functional annotation of proteins

(2010) A. Marchler-Bauer et al.   NUCLEIC ACIDS RESEARCH

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

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

(2009) C Boyd et al.   CLINICAL GENETICS

Protein structure prediction on the Web: a case study using the Phyre server

(2009) Lawrence A Kelley et al.   Nature Protocols

BioGPS: an extensible and customizable portal for querying and organizing gene annotation resources

(2009) Chunlei Wu et al.   GENOME BIOLOGY

Oncogenic BRAF Induces Senescence and Apoptosis through Pathways Mediated by the Secreted Protein IGFBP7

(2008) Narendra Wajapeyee et al.   CELL

The Clinical Phenotype of Lynch Syndrome Due to Germ-Line PMS2 Mutations

(2008) Leigha Senter et al.   GASTROENTEROLOGY

CDD: specific functional annotation with the Conserved Domain Database

(2008) A. Marchler-Bauer et al.   NUCLEIC ACIDS RESEARCH

The SWISS-MODEL Repository and associated resources

(2008) F. Kiefer et al.   NUCLEIC ACIDS RESEARCH

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

(2007) Roberta Sestini et al.   HUMAN MUTATION