Activating Mutations Affecting the Dbl Homology Domain of SOS2 Cause Noonan Syndrome

Rare variants inSOS2andLZTR1are associated with Noonan syndrome

(2015) Guilherme Lopes Yamamoto et al.   JOURNAL OF MEDICAL GENETICS

Activating mutations in RRAS underlie a phenotype within the RASopathy spectrum and contribute to leukaemogenesis

(2014) E. Flex et al.   HUMAN MOLECULAR GENETICS

A general framework for estimating the relative pathogenicity of human genetic variants

(2014) Martin Kircher et al.   NATURE GENETICS

Mechanism and treatment for learning and memory deficits in mouse models of Noonan syndrome

(2014) Yong-Seok Lee et al.   NATURE NEUROSCIENCE

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

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

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

Noonan syndrome

(2013) Amy E Roberts et al.   LANCET

The Centers for Mendelian Genomics: A new large-scale initiative to identify the genes underlying rare Mendelian conditions

(2012) Michael J. Bamshad et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff

(2012) Pablo Cingolani et al.   FLY

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

(2011) Francesca Lepri et al.   HUMAN MUTATION

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

(2011) Mark A DePristo et al.   NATURE GENETICS

Disorders of dysregulated signal traffic through the RAS-MAPK pathway: phenotypic spectrum and molecular mechanisms

(2010) Marco Tartaglia et al.   Annals of the New York Academy of Sciences

BEDTools: a flexible suite of utilities for comparing genomic features

(2010) Aaron R. Quinlan et al.   BIOINFORMATICS

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

(2010) A. McKenna et al.   GENOME RESEARCH

Role of the histone domain in the autoinhibition and activation of the Ras activator Son of Sevenless

(2010) Jodi Gureasko et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

The Phosphatase SHP2 Regulates the Spacing Effect for Long-Term Memory Induction

(2009) Mario R. Pagani et al.   CELL