Associated Papers
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
Mutational spectrum by phenotype: panel-based NGS testing of patients with clinical suspicion of RASopathy and children with multiple café-au-lait macules.
Castellanos E et al.
Clinical Genetics, 2020
PEDIA: prioritization of exome data by image analysis.
Hsieh TC et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
Genetic landscape of RASopathies in Chinese: Three decades' experience in Hong Kong.
Yu KPT et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 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
The novel RAF1 mutation p.(Gly361Ala) located outside the kinase domain of the CR3 region in two patients with Noonan syndrome, including one with a rare brain tumor.
Harms FL et al.
American Journal of Medical Genetics. Part A, 2018
RASopathy Gene Mutations in Melanoma.
Halaban R et al.
The Journal of Investigative Dermatology, 2016
Exome sequencing identifies recurrent mutations in NF1 and RASopathy genes in sun-exposed melanomas.
Krauthammer M et al.
Nature Genetics, 2015
Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.
Holehouse AS et al.
Plos One, 2015
Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutations.
Kiel C et al.
Molecular Systems Biology, 2014
Increased BRAF heterodimerization is the common pathogenic mechanism for noonan syndrome-associated RAF1 mutants.
Wu X et al.
Molecular and Cellular Biology, 2012
A structural systems biology approach for quantifying the systemic consequences of missense mutations in proteins.
Cheng TM et al.
Plos Computational Biology, 2012
Ras in cancer and developmental diseases.
Fernández-Medarde A et al.
Genes & Cancer, 2011
Disorders of dysregulated signal traffic through the RAS-MAPK pathway: phenotypic spectrum and molecular mechanisms.
Tartaglia M et al.
Annals of the New York Academy of Sciences, 2010
Noonan syndrome: clinical aspects and molecular pathogenesis.
Tartaglia M et al.
Molecular Syndromology, 2010
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy.
Pandit B et al.
Nature Genetics, 2007