Associated Papers
Clinical Spectrum of Noonan Syndrome-Associated Myeloproliferative Disorder.
Hirabayashi S et al.
American Journal of Hematology, 2026
Analytical Validation and Clinical Sensitivity of the Belay Summit™ 2.0 Cerebrospinal Fluid Liquid Biopsy Test-An Expanded Comprehensive Genomic Profiling Platform for Central Nervous System Malignancies.
Khurana S et al.
Cancers, 2026
CoDIAC: A comprehensive approach for interaction analysis reveals novel insights into SH2 domain function and regulation.
Kandoor A 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
Eosinophilic gastroenteritis in a 14-year-old patient with Noonan syndrome with a PTPN11 variation: a case report.
Koga N et al.
Journal of Medical Case Reports, 2025
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
Longitudinal multimodal profiling of IDH-wildtype glioblastoma reveals the molecular evolution and cellular phenotypes underlying prognostically different treatment responses.
Lucas CG et al.
Neuro-oncology, 2025
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
Clinical genome sequencing in patients with suspected rare genetic disease in Peru.
Bazalar-Montoya J et al.
Npj Genomic Medicine, 2024
Variants of the PTPN11 Gene in Mexican Patients with Noonan Syndrome.
Zepeda-Olmos PM et al.
Genes, 2024
Genomic ascertainment to quantify prevalence and cancer risk in adults with pathogenic and likely pathogenic germline variants in RASopathy genes.
Kim J et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
The SOS1 Inhibitor MRTX0902 Blocks KRAS Activation and Demonstrates Antitumor Activity in Cancers Dependent on KRAS Nucleotide Loading.
Sudhakar N et al.
Molecular Cancer Therapeutics, 2024
Transient Myeloproliferative Disorder (TMD), Acute Lymphoblastic Leukemia (ALL), and Juvenile Myelomonocytic Leukemia (JMML) in a Child with Noonan Syndrome: Sequential Occurrence, Single Center Experience, and Review of the Literature.
Arrabito M et al.
Genes, 2024
Genomic characterization of AML with aberrations of chromosome 7: a multinational cohort of 519 patients.
Halik A et al.
Journal of Hematology & Oncology, 2024
1q jumping translocation as a biomarker in myeloid malignancy: frequently mutated genes associated with bad prognosis and low survival.
Halper-Stromberg E et al.
Experimental Hematology & Oncology, 2024
Scalable approaches for generating, validating and incorporating data from high-throughput functional assays to improve clinical variant classification.
Padigepati SR et al.
Human Genetics, 2024
Noonan syndrome and Noonan-like syndrome with loose anagen hair: rare phenotypes may emerge during follow-up.
Liu Z et al.
Translational Pediatrics, 2024
CSF3R mutated myeloid neoplasms: Beyond chronic neutrophilic leukemia.
Mohamed A et al.
Human Pathology, 2024
PTPN11 variant may be a prognostic indicator of IDH-wildtype glioblastoma in a comprehensive genomic profiling cohort.
Otani R et al.
Journal of Neuro-oncology, 2023
Genotypic Findings in Noonan and Non-Noonan RASopathies and Patient Eligibility for Growth Hormone Treatment.
Carcavilla A et al.
Journal of Clinical Medicine, 2023
FMRP activity and control of Csw/SHP2 translation regulate MAPK-dependent synaptic transmission.
Leahy SN et al.
Plos Biology, 2023
Case report: Noonan syndrome with protein-losing enteropathy.
Ou Y et al.
Frontiers in Genetics, 2023
New insights on Noonan syndrome's clinical phenotype: a single center retrospective study.
Baldo F et al.
Bmc Pediatrics, 2022
Germline selection of PTPN11 (HGNC:9644) variants make a major contribution to both Noonan syndrome's high birth rate and the transmission of sporadic cancer variants resulting in fetal abnormality.
Eboreime J et al.
Human Mutation, 2022
Lymphatic anomalies during lifetime in patients with Noonan syndrome: Retrospective cohort study.
Swarts JW et al.
American Journal of Medical Genetics. Part A, 2022
SHP2's gain-of-function in Werner syndrome causes childhood disease onset likely resulting from negative genetic interaction.
Priolo M et al.
Clinical Genetics, 2022
SmMIP-tools: a computational toolset for processing and analysis of single-molecule molecular inversion probes-derived data.
Medeiros JJF et al.
Bioinformatics (oxford, England), 2022
Modeling (not so) rare developmental disorders associated with mutations in the protein-tyrosine phosphatase SHP2.
Solman M et al.
Frontiers in Cell and Developmental Biology, 2022
Multiclonal complexity of pediatric acute lymphoblastic leukemia and the prognostic relevance of subclonal mutations
Antić Ž et al.
Haematologica, 2021
Targeting Oncogenic Src Homology 2 Domain-Containing Phosphatase 2 (SHP2) by Inhibiting Its Protein-Protein Interactions.
Bobone S et al.
Journal of Medicinal Chemistry, 2021
Clinical variability of neurofibromatosis 1: A modifying role of cooccurring PTPN11 variants and atypical brain MRI findings.
D'Amico A et al.
Clinical Genetics, 2021
Compound heterozygosity for PTPN11 variants in a subject with Noonan syndrome provides insights into the mechanism of SHP2-related disorders.
Lorca R et al.
Clinical Genetics, 2021
Phenotype-genotype analysis of 242 individuals with RASopathies: 18-year experience of a tertiary center in Brazil.
Bertola DR et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2020