Next-generation sequencing identifies rare variants associated with Noonan syndrome

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 RASopathies

(2013) Katherine A. Rauen   Annual Review of Genomics and Human Genetics

New development in von Willebrand disease

(2013) Giancarlo Castaman   CURRENT OPINION IN HEMATOLOGY

ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing

(2013) Robert C. Green et al.   GENETICS IN MEDICINE

Noonan syndrome

(2013) Amy E Roberts et al.   LANCET

Novel recurrent mutations in the RAS-like GTP-binding gene RIT1 in myeloid malignancies

(2013) I Gómez-Seguí et al.   LEUKEMIA

Patient with a neurofibromatosis type 1 mutation but a clinical diagnosis of Noonan syndrome

(2012) Ellen A. Croonen et al.   CLINICAL DYSMORPHOLOGY

Assessment of the potential pathogenicity of missense mutations identified in the GTPase-activating protein (GAP)-related domain of the neurofibromatosis type-1 (NF1) gene

(2012) Laura Thomas et al.   HUMAN MUTATION

Ras/MAPK syndromes and childhood hemato-oncological diseases

(2012) Yoko Aoki et al.   INTERNATIONAL JOURNAL OF HEMATOLOGY

Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm

(2012) Mark E Lindsay et al.   NATURE GENETICS

TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome

(2012) Catherine Boileau et al.   NATURE GENETICS

Co-occurring SHOC2 and PTPN11 mutations in a patient with severe/complex Noonan syndrome-like phenotype

(2011) Sara Ekvall et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Co-occurring PTPN11 and SOS1 gene mutations in Noonan syndrome: does this predict a more severe phenotype?

(2011) Amanda Salem Brasil et al.   Arquivos Brasileiros de Endocrinologia e Metabologia

MEK-ERK pathway modulation ameliorates disease phenotypes in a mouse model of Noonan syndrome associated with the Raf1L613V mutation

(2011) Xue Wu et al.   JOURNAL OF CLINICAL INVESTIGATION

Rapamycin reverses hypertrophic cardiomyopathy in a mouse model of LEOPARD syndrome–associated PTPN11 mutation

(2011) Talita M. Marin et al.   JOURNAL OF CLINICAL INVESTIGATION

Heterozygous Germline Mutations in the CBL Tumor-Suppressor Gene Cause a Noonan Syndrome-like Phenotype

(2010) Simone Martinelli et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Neurofibromatosis/Noonan phenotype: a variable feature of type 1 neurofibromatosis

(2010) A. Colley et al.   CLINICAL GENETICS

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

(2010) A. McKenna et al.   GENOME RESEARCH

Activation of multiple signaling pathways causes developmental defects in mice with a Noonan syndrome–associated Sos1 mutation

(2010) Peng-Chieh Chen et al.   JOURNAL OF CLINICAL INVESTIGATION

Germline CBL mutations cause developmental abnormalities and predispose to juvenile myelomonocytic leukemia

(2010) Charlotte M Niemeyer et al.   NATURE GENETICS

COSMIC: mining complete cancer genomes in the Catalogue of Somatic Mutations in Cancer

(2010) S. A. Forbes et al.   NUCLEIC ACIDS RESEARCH

A human functional protein interaction network and its application to cancer data analysis

(2010) Guanming Wu et al.   GENOME BIOLOGY

Characterization of W1745C and S1783A: 2 novel mutations causing defective collagen binding in the A3 domain of von Willebrand factor

(2009) A. F. Riddell et al.   BLOOD

ProPhylER: A curated online resource for protein function and structure based on evolutionary constraint analyses

(2009) J. Binkley et al.   GENOME RESEARCH

Sprouty proteins: modified modulators, matchmakers or missing links?

(2009) G R Guy et al.   JOURNAL OF ENDOCRINOLOGY

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

(2009) Viviana Cordeddu et al.   NATURE GENETICS

A restricted spectrum of NRAS mutations causes Noonan syndrome

(2009) Ion C Cirstea et al.   NATURE GENETICS

Noonan syndrome cardiac defects are caused by PTPN11 acting in endocardium to enhance endocardial-mesenchymal transformation

(2009) T. Araki et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA