Rare variants inSOS2andLZTR1are associated with Noonan syndrome

Whole exome sequencing reveals that the majority of schwannomatosis cases remain unexplained after excluding SMARCB1 and LZTR1 germline variants

(2014) Sonja Hutter et al.   ACTA NEUROPATHOLOGICA

Further evidence of the importance ofRIT1in Noonan syndrome

(2014) Débora R. Bertola et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Expanding the mutational spectrum of LZTR1 in schwannomatosis

(2014) Irene Paganini et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Mutations in LZTR1 add to the complex heterogeneity of schwannomatosis

(2014) M. J. Smith et al.   NEUROLOGY

Next-generation sequencing identifies rare variants associated with Noonan syndrome

(2014) P.-C. Chen et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Rare copy number variations containing genes involved in RASopathies: deletion of SHOC2 and duplication of PTPN11

(2014) Jin-Lan Chen et al.   Molecular Cytogenetics

Gain-of-Function Mutations in RIT1 Cause Noonan Syndrome, a RAS/MAPK Pathway Syndrome

(2013) Yoko Aoki et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

Identifying the Ubiquitin Ligase Complex That Regulates the NF1 Tumor Suppressor and Ras

(2013) P. E. Hollstein et al.   Cancer Discovery

Molecular mechanisms promoting the pathogenesis of Schwann cell neoplasms

(2011) Steven L. Carroll   ACTA NEUROPATHOLOGICA

Understanding SOS (Son of Sevenless)

(2011) Stéphane Pierre et al.   BIOCHEMICAL PHARMACOLOGY

Multiple, diffuse schwannomas in a RASopathy phenotype patient with germline KRAS mutation: a causal relationship?

(2011) DR Bertola et al.   CLINICAL GENETICS

SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlations

(2011) Francesca Lepri et al.   HUMAN MUTATION

PTPN11 and KRAS Gene Analysis in Patients with Noonan and Noonan-Like Syndromes

(2010) Amanda Salem Brasil et al.   Genetic Testing and Molecular Biomarkers

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

(2010) A. McKenna et al.   GENOME RESEARCH

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

(2010) K. Wang et al.   NUCLEIC ACIDS RESEARCH

Noonan Syndrome: Clinical Features, Diagnosis, and Management Guidelines

(2010) A. A. Romano et al.   PEDIATRICS

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

The RASopathies: developmental syndromes of Ras/MAPK pathway dysregulation

(2009) William E Tidyman et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT