Associated Papers
Clinical characteristics of 41 children with hypertrophic cardiomyopathy: A single-center retrospective study.
Li SG et al.
The Journal of International Medical Research, 2025
Evaluation of Bridge Capture technology for mutation profiling in liquid biopsies of metastatic colorectal cancer patients.
Ganesan A et al.
Scientific Reports, 2025
Genotypic Findings in Noonan and Non-Noonan RASopathies and Patient Eligibility for Growth Hormone Treatment.
Carcavilla A et al.
Journal of Clinical Medicine, 2023
Multidirectional characterization of cellular composition and spatial architecture in human multiple primary lung cancers.
Wang Y et al.
Cell Death & Disease, 2023
RAF1 deficiency causes a lethal syndrome that underscores RTK signaling during embryogenesis.
Wong S et al.
Embo Molecular Medicine, 2023
Clinical characteristics and survival of children with hypertrophic cardiomyopathy in China: A multicentre retrospective cohort study.
Chan W et al.
Eclinicalmedicine, 2022
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
Rare variant analysis of 4241 pulmonary arterial hypertension cases from an international consortium implicates FBLN2, PDGFD, and rare de novo variants in PAH.
Zhu N et al.
Genome Medicine, 2021
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
Clinical and molecular analysis of 26 individuals with Noonan syndrome in a reference institution in Colombia.
Lores J et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2020
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
Targeted/exome sequencing identified mutations in ten Chinese patients diagnosed with Noonan syndrome and related disorders.
Xu S et al.
Bmc Medical Genomics, 2017
A Novel Noonan Syndrome RAF1 Mutation: Lethal Course in a Preterm Infant.
Ratola A et al.
Pediatric Reports, 2015
Increased BRAF heterodimerization is the common pathogenic mechanism for noonan syndrome-associated RAF1 mutants.
Wu X et al.
Molecular and Cellular Biology, 2012
Spectrum of mutations in Noonan syndrome and their correlation with phenotypes.
Lee BH et al.
The Journal of Pediatrics, 2011