Associated Papers
Genotype-Phenotype Analysis and New Clinical Findings in a Series of 24 Patients Presenting with Noonan Syndrome and Related Disorders.
Corso BM et al.
Molecular Syndromology, 2026
Dysregulated TGFβ-ERK Signaling Drives Aberrant Extracellular Matrix Production in Noonan Syndrome-Associated Pulmonary Valve Stenosis.
Liu CZ et al.
Biorxiv : the Preprint Server for Biology, 2026
Proximity-labeling proteomics reveals remodeled interactomes and altered localization of pathogenic SHP2 variants.
van Vlimmeren AE et al.
Embo Reports, 2025
Mechanism of SHP2 activation by bis-Tyr-phosphorylated Gab1.
Machner L et al.
Structure (london, England : 1993), 2025
Understanding Molecular Basis of PTPN11-Related Diseases.
Um S et al.
Arxiv, 2025
Clinical application of whole exome sequencing (WES) in the genetic diagnosis of 768 Chinese patients with bilateral hearing loss.
Kang H et al.
European Journal of Human Genetics : Ejhg, 2025
Accurate affinity models for SH2 domains from peptide binding assays and free-energy regression.
Gagoski D et al.
Protein Science : a Publication of the Protein Society, 2025
The clinical and genetic spectrum of pediatric hypertrophic cardiomyopathy manifesting before one year of age.
Fetisova S et al.
Pediatric Research, 2025
Adult genomic medicine: lessons from a multisite study of 2700 patients.
Bakur K et al.
Genome Medicine, 2025
Genetic, Clinical, and Sociodemographic Profile of Individuals with Diagnosis or Family History of Hypertrophic Cardiomyopathy: Insights from a Prospective Cohort.
Santos ES et al.
Genes, 2025
Proximity-labeling proteomics reveals remodeled interactomes and altered localization of pathogenic SHP2 variants.
van Vlimmeren AE et al.
Biorxiv : the Preprint Server for Biology, 2025
SHP2 genetic variants in NSML-associated RASopathies disrupt the PZR-IRX transcription factor signaling axis.
Perla S et al.
Proceedings of the National Academy of Sciences of the United States of America, 2025
Structure-informed theoretical modeling defines principles governing avidity in bivalent protein interactions.
Portelance R et al.
Biorxiv : the Preprint Server for Biology, 2025
[Hypertrophy of the lumbosacral nerve roots in Noonan syndrome with multiple lentigines: a case report].
Araga Y et al.
Rinsho Shinkeigaku = Clinical Neurology, 2025
Multiplexed single-cell transcriptomics reveals diverse phenotypic outcomes for pathogenic SHP2 variants.
van Vlimmeren AE et al.
Biorxiv : the Preprint Server for Biology, 2025
Deep mutational scanning of the multi-domain phosphatase SHP2 reveals mechanisms of regulation and pathogenicity.
Jiang Z et al.
Nature Communications, 2025
Cardiovascular aspects of Noonan syndrome and related disorders.
Zenker M et al.
Medizinische Genetik : Mitteilungsblatt Des Berufsverbandes Medizinische Genetik E.v, 2025
Targeted sequencing identifies 33 novel mutations in 130 ClinGen curated hearing loss genes among 253 pediatric patients: A retrospective case study.
Zhou Z et al.
Biomedical Reports, 2025
Exploring the allosteric effect of SHP2 Tyr62 phosphorylation on the emergence of acquired resistance to allosteric inhibitor SHP099.
Du T et al.
Journal of Biomolecular Structure & Dynamics, 2025
Genetic Insights Into Recurrent Granular Cell Tumours in an Adolescent: The Role of Cytology and Next-Generation Sequencing in the Diagnosis of RASopathies.
Baishya P et al.
Cytopathology : Official Journal of the British Society for Clinical Cytology, 2025
Germline DNA Repair Gene Mutations and Clonal Hematopoiesis (CH) in 24,849 Patients with BRCA-Associated Cancers.
Marshall CH et al.
Cancers, 2025
Gene signatures and genotype-phenotype correlations of sensorineural hearing loss in Noonan syndrome and related RASopathies.
Lee SJ et al.
Scientific Reports, 2025