Contribution ofRIT1mutations to the pathogenesis of Noonan syndrome: Four new cases and further evidence of heterogeneity

Oncogenic RIT1 mutations in lung adenocarcinoma

(2014) A H Berger et al.   ONCOGENE

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

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

GH Therapy and first final height data in Noonan-like syndrome with loose anagen hair (Mazzanti syndrome)

(2013) Laura Mazzanti et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

The RASopathies

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

Rit subfamily small GTPases: Regulators in neuronal differentiation and survival

(2013) Geng-Xian Shi et al.   CELLULAR SIGNALLING

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

(2013) I Gómez-Seguí et al.   LEUKEMIA

Next-generation sequencing: impact of exome sequencing in characterizing Mendelian disorders

(2012) Bahareh Rabbani et al.   JOURNAL OF HUMAN GENETICS

Hemizygous mutations in SNAP29 unmask autosomal recessive conditions and contribute to atypical findings in patients with 22q11.2DS

(2012) Donna M McDonald-McGinn et al.   JOURNAL OF MEDICAL GENETICS

Clinical application of exome sequencing in undiagnosed genetic conditions

(2012) Anna C Need et al.   JOURNAL OF MEDICAL GENETICS

Rit GTPase regulates a p38 MAPK-dependent neuronal survival pathway

(2012) Weikang Cai et al.   NEUROSCIENCE LETTERS

Predicting the Functional Effect of Amino Acid Substitutions and Indels

(2012) Yongwook Choi et al.   PLoS One

Integrative genomics viewer

(2011) James T Robinson et al.   NATURE BIOTECHNOLOGY

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

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

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

(2010) K. Wang 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

The RASopathies: developmental syndromes of Ras/MAPK pathway dysregulation

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

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

(2009) Viviana Cordeddu et al.   NATURE GENETICS

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

(2009) Prateek Kumar et al.   Nature Protocols