A novel rasopathy caused by recurrent de novo missense mutations inPPP1CBclosely resembles Noonan syndrome with loose anagen hair

Clinical application of whole-exome sequencing across clinical indications

(2015) Kyle Retterer et al.   GENETICS IN MEDICINE

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

Spectrum of mutations and genotype–phenotype analysis in Noonan syndrome patients with RIT1 mutations

(2015) Masako Yaoita et al.   HUMAN GENETICS

The perinatal presentation of cardiofaciocutaneous syndrome

(2014) Kara N. Wong Ramsey et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Phenotypic variability associated with the invariantSHOC2c.4A>G (p.Ser2Gly) missense mutation

(2014) Giuseppina Baldassarre et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

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

(2014) Martin Kircher et al.   NATURE GENETICS

Cardio-Facio-Cutaneous Syndrome: Clinical Features, Diagnosis, and Management Guidelines

(2014) M. E. M. Pierpont et al.   PEDIATRICS

De Novo Mutations in Moderate or Severe Intellectual Disability

(2014) Fadi F. Hamdan et al.   PLoS Genetics

Unique Cerebrovascular Anomalies in Noonan Syndrome With RAF1 Mutation

(2013) Yuri A. Zarate et al.   JOURNAL OF CHILD NEUROLOGY

Noonan syndrome

(2013) Amy E Roberts et al.   LANCET

An MRAS, SHOC2, and SCRIB Complex Coordinates ERK Pathway Activation with Polarity and Tumorigenic Growth

(2013) Lucy C. Young et al.   MOLECULAR CELL

A novelHRASsubstitution (c.266C>G; p.S89C) resulting in decreased downstream signaling suggests a new dimension of RAS pathway dysregulation in human development

(2012) Karen W. Gripp et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Association between Noonan syndrome and Chiari I malformation: a case-based update

(2012) Yann Shern Keh et al.   CHILDS NERVOUS SYSTEM

Phenotypic analysis of individuals with Costello syndrome due to HRAS p.G13C

(2011) Karen W. Gripp et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

High incidence of progressive postnatal cerebellar enlargement in Costello syndrome: Brain overgrowth associated withHRASmutations as the likely cause of structural brain and spinal cord abnormalities

(2010) Karen W. Gripp et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

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

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

Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair

(2009) Viviana Cordeddu et al.   NATURE GENETICS

LEOPARD Syndrome and Chiari Type I Malformation

(2009) Alexandra D. Beier et al.   NEUROLOGIST

Functional and Evolutionary Insights into Human Brain Development through Global Transcriptome Analysis

(2009) Matthew B. Johnson et al.   NEURON

Model Organisms Inform the Search for the Genes and Developmental Pathology Underlying Malformations of the Human Hindbrain

(2009) Kimberly A. Aldinger et al.   Seminars in Pediatric Neurology