Associated Papers
Clinical Spectrum of Noonan Syndrome-Associated Myeloproliferative Disorder.
Hirabayashi S et al.
American Journal of Hematology, 2026
Deep mutational scanning of the multi-domain phosphatase SHP2 reveals mechanisms of regulation and pathogenicity.
Jiang Z et al.
Nature Communications, 2025
40595497 (PubMed )
Supplement: 41467_2025_60641_MOESM5_ESM.xlsx › ClinVar_annotated
Deep mutational scanning of a multi-domain signaling protein reveals mechanisms of regulation and pathogenicity.
Jiang Z et al.
Biorxiv : the Preprint Server for Biology, 2024
39091798 (PubMed )
Supplement: media-4.xlsx › SHP2-PTP_cSrc-KD_column
Genotypic Findings in Noonan and Non-Noonan RASopathies and Patient Eligibility for Growth Hormone Treatment.
Carcavilla A et al.
Journal of Clinical Medicine, 2023
37568403 (PubMed )
Supplement: jcm-12-05003-s001.zip › jcm-2490499-supplementary.pdf
Genomic analysis of plasma circulating tumor DNA in patients with heavily pretreated HER2 + metastatic breast cancer.
Lee K et al.
Scientific Reports, 2023
37336919 (PubMed )
Supplement: 41598_2023_35925_MOESM1_ESM.xlsx › Table_S4__patho_variants_
Setting sail: Maneuvering SHP2 activity and its effects in cancer.
Welsh CL et al.
Advances in Cancer Research, 2023
PTPN11 c.853T>C (p.Phe285Leu) mutation in Noonan syndrome with chylothorax.
Watanabe D et al.
Nagoya Journal of Medical Science, 2022
Identification of pathogenic missense mutations using protein stability predictors.
Gerasimavicius L et al.
Scientific Reports, 2020
32958805 (PubMed )
Supplement: 41598_2020_72404_MOESM2_ESM.xlsx › ClinVar
Genotype-phenotype correlation analysis in Japanese patients with Noonan syndrome.
Shoji Y et al.
Endocrine Journal, 2019
Selfish mutations dysregulating RAS-MAPK signaling are pervasive in aged human testes.
Maher GJ et al.
Genome Research, 2018
Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutations.
Kiel C et al.
Molecular Systems Biology, 2014
24803665 (PubMed )
Supplement: MSB-10-5-727-s13.xls › energies
The RAS/MAPK syndromes: novel roles of the RAS pathway in human genetic disorders.
Aoki Y et al.
Human Mutation, 2008
Clinical and molecular characterization of 40 patients with Noonan syndrome.
Ferrero GB et al.
European Journal of Medical Genetics, 0
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