Associated Papers
Clinical Spectrum of Noonan Syndrome-Associated Myeloproliferative Disorder.
Hirabayashi S et al.
American Journal of Hematology, 2026
Understanding Molecular Basis of PTPN11-Related Diseases.
Um S et al.
Arxiv, 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
Structure-informed theoretical modeling defines principles governing avidity in bivalent protein interactions.
Portelance R et al.
Biorxiv : the Preprint Server for Biology, 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
Rare damaging variants in the sex differences of congenital heart disease: an exome sequencing study.
Sun H et al.
Ebiomedicine, 2025
Longitudinal Glioma Monitoring via Cerebrospinal Fluid Cell-Free DNA.
Riviere-Cazaux C et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2025
New Insights Into the Spectrum of RASopathies: Clinical and Genetic Data in a Cohort of 121 Spanish Patients.
Barbero AIS et al.
American Journal of Medical Genetics. Part A, 2025
Accurate sequence-to-affinity models for SH2 domains from multi-round peptide binding assays coupled with free-energy regression.
Gagoski D et al.
Biorxiv : the Preprint Server for Biology, 2025
Genetic variations in PTPN11 lead to a recurrent left ventricular outflow tract obstruction phenotype in childhood hypertrophic cardiomyopathy.
Liu S et al.
The Journal of Thoracic and Cardiovascular Surgery, 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
Decoding Missense Variants by Incorporating Phase Separation via Machine Learning.
Feng M et al.
Nature Communications, 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
Optimal prenatal genetic diagnostic approach for posterior fossa malformation: karyotyping, copy number variant testing, or whole-exome sequencing?
Juan Z et al.
European Journal of Medical Research, 2024
MEK Inhibition for RASopathy-Associated Hypertrophic Cardiomyopathy: Clinical Application of a Basic Concept.
Chaput D et al.
The Canadian Journal of Cardiology, 2024
Paternally Inherited Noonan Syndrome Caused by a PTPN11 Variant May Exhibit Mild Symptoms: A Case Report and Literature Review.
Han JY et al.
Genes, 2024
Transcriptome analysis of human hypertrophic cardiomyopathy reveals inhibited cardiac development pathways in children.
Chen S et al.
Iscience, 2024
SHP2 clinical phenotype, cancer, or RASopathies, can be predicted by mutant conformational propensities.
Liu Y et al.
Cellular and Molecular Life Sciences : Cmls, 2023
Metastatic Colorectal Cancer Treatment Response Evaluation by Ultra-Deep Sequencing of Cell-Free DNA and Matched White Blood Cells.
van 't Erve I et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2023
Multimodality Imaging in Noonan Syndrome: Case Series of Young Children.
Yang W et al.
Radiology. Cardiothoracic Imaging, 2023
LEOPARD Syndrome with a Sporadic PTPN11 Mutation in a Saudi Patient.
Alshamrani HM et al.
Case Reports in Dermatological Medicine, 2023
Setting sail: Maneuvering SHP2 activity and its effects in cancer.
Welsh CL et al.
Advances in Cancer Research, 2023
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
Compartment-specific mutational landscape of clonal hematopoiesis.
Hartmann L et al.
Leukemia, 2022
RASopathies due to de novo pathogenic variants: clinical features, genetic findings and outcomes in nine neonates born with congenital heart defects.
Zheng S et al.
Bmc Medical Genomics, 2022
Clinical characteristics and survival of children with hypertrophic cardiomyopathy in China: A multicentre retrospective cohort study.
Chan W et al.
Eclinicalmedicine, 2022
Lessons learnt from prenatal exome sequencing.
Chandler NJ et al.
Prenatal Diagnosis, 2022
Integrated Genomic Analysis Identifies UBTF Tandem Duplications as a Recurrent Lesion in Pediatric Acute Myeloid Leukemia.
Umeda M et al.
Blood Cancer Discovery, 2022
Whole exome sequencing of pediatric leukemia reveals a novel InDel within FLT-3 gene in AML patient from Mizo tribal population, Northeast India.
Vanlallawma A et al.
Bmc Genomic Data, 2022
The RASopathies: from pathogenetics to therapeutics.
Hebron KE et al.
Disease Models & Mechanisms, 2022
Multiclonal complexity of pediatric acute lymphoblastic leukemia and the prognostic relevance of subclonal mutations
Antić Ž et al.
Haematologica, 2021
Genomes for Kids: The Scope of Pathogenic Mutations in Pediatric Cancer Revealed by Comprehensive DNA and RNA Sequencing.
Newman S et al.
Cancer Discovery, 2021
Application of CRISPR-Cas9 gene editing for congenital heart disease.
Seok H et al.
Clinical and Experimental Pediatrics, 2021
Activating Mutation of SHP2 Establishes a Tumorigenic Phonotype Through Cell-Autonomous and Non-Cell-Autonomous Mechanisms.
Dong L et al.
Frontiers in Cell and Developmental Biology, 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
An allosteric interaction controls the activation mechanism of SHP2 tyrosine phosphatase.
Anselmi M et al.
Scientific Reports, 2020
Recent Advances of SHP2 Inhibitors in Cancer Therapy: Current Development and Clinical Application.
Yuan X et al.
Journal of Medicinal Chemistry, 2020
Phase Separation of Disease-Associated SHP2 Mutants Underlies MAPK Hyperactivation.
Zhu G et al.
Cell, 2020
Identification of pathogenic missense mutations using protein stability predictors.
Gerasimavicius L et al.
Scientific Reports, 2020
Prolonged thrombocytopenia in a neonate with Noonan syndrome: a case report.
Li M et al.
The Journal of International Medical Research, 2020
Mechanistic insights explain the transforming potential of the T507K substitution in the protein-tyrosine phosphatase SHP2.
Zhang RY et al.
The Journal of Biological Chemistry, 2020
Therapeutic potential of targeting SHP2 in human developmental disorders and cancers.
Shen D et al.
European Journal of Medicinal Chemistry, 2020
Molecular and clinical studies in 107 Noonan syndrome affected individuals with PTPN11 mutations.
Athota JP et al.
Bmc Medical Genetics, 2020
Comprehensive Genomic Analysis of Noonan Syndrome and Acute Myeloid Leukemia in Adults: A Review and Future Directions.
Alhumaid MS et al.
Acta Haematologica, 2020