When to test fetuses for RASopathies? Proposition from a systematic analysis of 352 multicenter cases and a postnatal cohort

Rapid detection by hydrops panel of Noonan syndrome with PTPN11 mutation (p.Thr73Ile) and persistent thrombocytopenia

(2020) Mascha Schönfeld et al.   Molecular Genetics & Genomic Medicine

Germline and sporadic cancers driven by the RAS pathway: parallels and contrasts

(2020) V. Dunnett-Kane et al.   ANNALS OF ONCOLOGY

Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical Spectrum

(2020) Marialetizia Motta et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Prenatal pleural effusions and chylothorax: An unusual presentation for CM‐AVM syndrome due to RASA1

(2020) Guylaine D'Amours et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Activating Mutations of RRAS2 Are a Rare Cause of Noonan Syndrome

(2019) Yline Capri et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Activating MRAS mutations cause Noonan syndrome associated with hypertrophic cardiomyopathy

(2019) Marialetizia Motta et al.   HUMAN MOLECULAR GENETICS

Prenatal ultrasound findings of rasopathies in a cohort of 424 fetuses: update on genetic testing in the NGS era

(2019) Kyra E Stuurman et al.   JOURNAL OF MEDICAL GENETICS

The sixth international RASopathies symposium: Precision medicine—From promise to practice

(2019) Karen W. Gripp et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

The Rasopathy family: Consequences of germline activation of the RAS/MAPK pathway

(2018) Mylène Tajan et al.   ENDOCRINE REVIEWS

Comparative assessment of gene-specific variant distribution in prenatal and postnatal cohorts tested for Noonan syndrome and related conditions

(2018) N. L. Leach et al.   GENETICS IN MEDICINE

Testing for Noonan syndrome after increased nuchal translucency

(2017) Marwan M. Ali et al.   PRENATAL DIAGNOSIS

Retrospective study of prenatal ultrasound findings in newborns with a Noonan spectrum disorder

(2016) Fahad Hakami et al.   PRENATAL DIAGNOSIS

Cancer spectrum and frequency among children with Noonan, Costello and cardio-facio-cutaneous syndromes

(2015) C P Kratz et al.   BRITISH JOURNAL OF CANCER

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

Recent advances in RASopathies

(2015) Yoko Aoki et al.   JOURNAL OF HUMAN GENETICS

Genomic microarray in fetuses with increased nuchal translucency and normal karyotype: a systematic review and meta-analysis

(2015) M. Grande et al.   ULTRASOUND IN OBSTETRICS & GYNECOLOGY

Perinatal features of the RASopathies: Noonan syndrome, Cardiofaciocutaneous syndrome and Costello syndrome

(2014) Angela Myers et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Juvenile myelomonocytic leukaemia and Noonan syndrome

(2014) Marion Strullu et al.   JOURNAL OF MEDICAL GENETICS

Increased nuchal translucency with normal karyotype and anomaly scan: What next?

(2013) Merel Bakker et al.   BEST PRACTICE & RESEARCH CLINICAL OBSTETRICS & GYNAECOLOGY

Prenatal diagnostic testing of the Noonan syndrome genes in fetuses with abnormal ultrasound findings

(2013) Ellen A Croonen et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Postnatal phenotype according to prenatal ultrasound features of Noonan syndrome: a retrospective study of 28 cases

(2013) A. Gaudineau et al.   PRENATAL DIAGNOSIS

Two cases with severe lethal course of Costello syndrome associated with HRAS p.G12C and p.G12D

(2012) Sybille Lorenz et al.   European Journal of Medical Genetics

Noonan syndrome and clinically related disorders

(2011) Marco Tartaglia et al.   BEST PRACTICE & RESEARCH CLINICAL ENDOCRINOLOGY & METABOLISM

Genetic assessment following increased nuchal translucency and normal karyotype

(2011) Eugene Pergament et al.   PRENATAL DIAGNOSIS

Prenatal features of Noonan syndrome: prevalence and prognostic value

(2011) G. Baldassarre et al.   PRENATAL DIAGNOSIS

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

Prenatal detection of Noonan syndrome by mutation analysis of thePTPN11and theKRASgenes

(2010) A. C. Houweling et al.   PRENATAL DIAGNOSIS

PTPN11analysis for the prenatal diagnosis of Noonan syndrome in fetuses with abnormal ultrasound findings

(2009) KA Lee et al.   CLINICAL GENETICS