Associated Papers
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
Update on the Clinical and Molecular Characterization of Noonan Syndrome and Other RASopathies: A Retrospective Study and Systematic Review.
Reynolds G et al.
International Journal of Molecular Sciences, 2025
Genomic analysis of 11,555 probands identifies 60 dominant congenital heart disease genes.
Sierant MC et al.
Proceedings of the National Academy of Sciences of the United States of America, 2025
40127276 (PubMed )
Supplement: pnas.2420343122.sapp.pdf
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
FLT3 and IRAK4 Inhibitor Emavusertib in Combination with BH3-Mimetics in the Treatment of Acute Myeloid Leukemia.
Seipel K et al.
Current Issues in Molecular Biology, 2024
PTPN11 c.853T>C (p.Phe285Leu) mutation in Noonan syndrome with chylothorax.
Watanabe D et al.
Nagoya Journal of Medical Science, 2022
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
31164752 (PubMed )
Supplement: 41436_2019_566_MOESM2_ESM.xlsx › Sheet1
Biology and prognostic impact of clonal plasmacytoid dendritic cells in chronic myelomonocytic leukemia.
Lucas N et al.
Leukemia, 2019
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
Functional evaluation of circulating hematopoietic progenitors in Noonan syndrome.
Timeus F et al.
Oncology Reports, 2013
Transcriptional hallmarks of Noonan syndrome and Noonan-like syndrome with loose anagen hair.
Ferrero GB et al.
Human Mutation, 2012
22253195 (PubMed )
Supplement: humu0033-0703-SD1.pdf
Clinical and molecular characterization of 40 patients with Noonan syndrome.
Ferrero GB et al.
European Journal of Medical Genetics, 0
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