Associated Papers
Domain-specific phenotypic profiles in RAF1-related Noonan syndrome.
Gazzin A et al.
European Journal of Human Genetics : Ejhg, 2026
Noonan Syndrome, Cancer Risk, and Growth Hormone Treatment
Demir K et al.
Journal of Clinical Research in Pediatric Endocrinology, 2025
Structural Insights Into the Impact of the Glycine-Rich Loop Mutation in Noonan Syndrome on the ATP Binding Pocket of CRAF Kinase.
Janati-Fard F et al.
Proteins, 2025
Impact of MEK Inhibition on Childhood RASopathy-Associated Hypertrophic Cardiomyopathy.
Wolf CM et al.
Jacc. Basic to Translational Science, 2025
Application of family whole-exome sequencing for prenatal diagnosis-an analysis of 357 cases.
Ge Y et al.
Frontiers in Medicine, 2025
Novel Multiplexed Plasma Biomarker Panel Has Diagnostic and Prognostic Potential in Children With Hypertrophic Cardiomyopathy.
Captur G et al.
Circulation. Genomic and Precision Medicine, 2024
Phenotypic and genotypic spectrum of noonan syndrome: A retrospective analysis of 46 consecutive pediatric patients presented at a regional cardiac center in China.
Chen Q et al.
Heliyon, 2024
Contribution of genetic variants to congenital heart defects in both singleton and twin fetuses: a Chinese cohort study.
Lin S et al.
Molecular Cytogenetics, 2024
Genotypic Findings in Noonan and Non-Noonan RASopathies and Patient Eligibility for Growth Hormone Treatment.
Carcavilla A et al.
Journal of Clinical Medicine, 2023
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
Cardiovascular Abnormalities and Gene Mutations in Children With Noonan Syndrome.
Sun L et al.
Frontiers in Genetics, 2022
Inside the Noonan "universe": Literature review on growth, GH/IGF axis and rhGH treatment: Facts and concerns.
Stagi S et al.
Frontiers in Endocrinology, 2022
Selection criteria for assembling a pediatric cancer predisposition syndrome gene panel.
Byrjalsen A et al.
Familial Cancer, 2021
Spectrum of histiocytic neoplasms associated with diverse haematological malignancies bearing the same oncogenic mutation.
Kemps PG et al.
The Journal of Pathology. Clinical Research, 2021
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
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
Integrative omics analyses broaden treatment targets in human cancer.
Sengupta S et al.
Genome Medicine, 2018
From somatic variants towards precision oncology: Evidence-driven reporting of treatment options in molecular tumor boards.
Perera-Bel J et al.
Genome Medicine, 2018
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
Prioritized High-Confidence Risk Genes for Intellectual Disability Reveal Molecular Convergence During Brain Development.
Liu Z et al.
Frontiers in Genetics, 2018
Variation in a range of mTOR-related genes associates with intracranial volume and intellectual disability.
Reijnders MRF et al.
Nature Communications, 2017
A pilot study evaluating concordance between blood-based and patient-matched tumor molecular testing within pancreatic cancer patients participating in the Know Your Tumor (KYT) initiative.
Pishvaian MJ et al.
Oncotarget, 2017
Clinical laboratories collaborate to resolve differences in variant interpretations submitted to ClinVar.
Harrison SM et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
Molecular profiling-based decision for targeted therapies in IDH wild-type glioblastoma.
Kessler T et al.
Neuro-oncology Advances, 0