Associated Papers
Domain-specific phenotypic profiles in RAF1-related Noonan syndrome.
Gazzin A et al.
European Journal of Human Genetics : Ejhg, 2026
The clinical and genetic spectrum of pediatric hypertrophic cardiomyopathy manifesting before one year of age.
Fetisova S et al.
Pediatric Research, 2025
Genomic analysis of 11,555 probands identifies 60 dominant congenital heart disease genes.
Sierant MC et al.
Proceedings of the National Academy of Sciences of the United States of America, 2025
Genetic variations in PTPN11 lead to a recurrent left ventricular outflow tract obstruction phenotype in childhood hypertrophic cardiomyopathy.
Liu S et al.
The Journal of Thoracic and Cardiovascular Surgery, 2025
Prenatal and infantile diagnosis of craniosynostosis in individuals with RASopathies.
Serbinski CR et al.
American Journal of Medical Genetics. Part A, 2024
Transcriptome analysis of human hypertrophic cardiomyopathy reveals inhibited cardiac development pathways in children.
Chen S et al.
Iscience, 2024
Review of Recurrently Mutated Genes in Craniosynostosis Supports Expansion of Diagnostic Gene Panels.
Tooze RS et al.
Genes, 2023
Prevalence of Genetic Diagnoses in a Cohort With Valvar Pulmonary Stenosis.
Weaver KN et al.
Circulation. Genomic and Precision Medicine, 2022
Clinical characteristics and survival of children with hypertrophic cardiomyopathy in China: A multicentre retrospective cohort study.
Chan W et al.
Eclinicalmedicine, 2022
Craniosynostosis is a feature of Costello syndrome.
Weaver KN et al.
American Journal of Medical Genetics. Part A, 2022
Phenotype-genotype analysis of 242 individuals with RASopathies: 18-year experience of a tertiary center in Brazil.
Bertola DR et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2020
Clinical and molecular characterization of children with Noonan syndrome and other RASopathies in Argentina.
Chinton J et al.
Archivos Argentinos De Pediatria, 2019
RAF1 variant in a patient with Noonan syndrome with multiple lentigines and craniosynostosis.
Rodríguez F et al.
American Journal of Medical Genetics. Part A, 2019
Clinical and mutation profile of pediatric patients with RASopathy-associated hypertrophic cardiomyopathy: results from a Chinese cohort.
Chen H et al.
Orphanet Journal of Rare Diseases, 2019
Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes.
Ingles J et al.
Circulation. Genomic and Precision Medicine, 2019
Quantifying the potential of functional evidence to reclassify variants of uncertain significance in the categorical and Bayesian interpretation frameworks.
Brnich SE et al.
Human Mutation, 2018
Clinical profile of comorbidity of rare diseases in a Tunisian patient: a case report associating incontinentia pigmenti and Noonan syndrome.
Ghedira N et al.
Bmc Pediatrics, 2018
Prenatal diagnosis of hypoplastic left heart syndrome associated with Noonan Syndrome and de novo RAF1 mutation.
Schulz S et al.
Prenatal Diagnosis, 2012