Associated Papers
Clinical Spectrum of Noonan Syndrome-Associated Myeloproliferative Disorder.
Hirabayashi S et al.
American Journal of Hematology, 2026
Clonal hematopoiesis associates with prevalent and incident cardiometabolic disease in a cardiac catheterization cohort.
Regan JA et al.
Plos One, 2026
Noonan Syndrome, Cancer Risk, and Growth Hormone Treatment
Demir K et al.
Journal of Clinical Research in Pediatric Endocrinology, 2025
Clonal hematopoiesis in apparent treatment-resistant hypertension, insights from multiple medical centers and community-based cohorts.
Lv C et al.
Nature Aging, 2025
Understanding Molecular Basis of PTPN11-Related Diseases.
Um S et al.
Arxiv, 2025
Unveiling splicing disruptions due to common somatic variants in acute myeloid leukemia.
Morote-Faubel M et al.
Human Genomics, 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
Common Diseases in Clinical Cohorts - Not Always What They Seem.
Rahimov F et al.
The New England Journal of Medicine, 2025
Detection of Targetable Genetic Abnormalities in Neuroblastoma Circulating Tumour DNA.
Danilenko M et al.
International Journal of Molecular Sciences, 2025
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
Distinct characteristics of lymphoid and myeloid clonal hematopoiesis in World Trade Center first responders.
Esai Selvan M et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Deep mutational scanning of the multi-domain phosphatase SHP2 reveals mechanisms of regulation and pathogenicity.
Jiang Z et al.
Nature Communications, 2025
Clonal Hematopoiesis of Indeterminate Potential Is Associated With Incident Abdominal Aortic Aneurysm.
Tan Y et al.
Arteriosclerosis, Thrombosis, and Vascular Biology, 2025
Clonal Evolution of PPM1D Mutations in the Spectrum of Myeloid Disorders.
Fandrei D et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2025
Co-Occurrence of Dysembryoplastic Neuroepithelial Tumor and Hodgkin Lymphoma in a Patient with Noonan Syndrome and Mutation in the PTPN11 Gene.
Pellicciari CR et al.
Hormone Research in Paediatrics, 2025
Clonal hematopoiesis is associated with distinct rheumatoid arthritis phenotypes.
Hiitola E et al.
Science Advances, 2025
Persistent postremission clonal hematopoiesis shapes the relapse trajectories of acute myeloid leukemia.
Chow RD et al.
Blood Advances, 2025
Comparative analysis of the Mexico City Prospective Study and the UK Biobank identifies ancestry-specific effects on clonal hematopoiesis.
Wen S et al.
Nature Genetics, 2025
Clonal Hematopoiesis Associates with Prevalent and Incident Cardiometabolic Disease in High-Risk Individuals.
Regan JA et al.
Medrxiv : the Preprint Server for Health Sciences, 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
Routine Prenatal cfDNA Screening for Autosomal Dominant Single-Gene Conditions.
Adams S et al.
Clinical Chemistry, 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
Colchicine prevents accelerated atherosclerosis in TET2-mutant clonal haematopoiesis.
Zuriaga MA et al.
European Heart Journal, 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
Unidirectional association of clonal hematopoiesis with atherosclerosis development.
Díez-Díez M et al.
Nature Medicine, 2024
Early drivers of clonal hematopoiesis shape the evolutionary trajectories of de novo acute myeloid leukemia.
Chow RD et al.
Medrxiv : the Preprint Server for Health Sciences, 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
Association Between Clonal Hematopoiesis and Left Ventricular Reverse Remodeling in Nonischemic Dilated Cardiomyopathy.
Inoue S et al.
Jacc. Basic to Translational Science, 2024
Identification of a putative molecular subtype of adult-type diffuse astrocytoma with recurrent MAPK pathway alterations.
Sievers P et al.
Acta Neuropathologica, 2024
High frequency of hotspot mutation in PTPN11 gene among Moroccan patients with Noonan syndrome.
Ouboukss F et al.
Journal of Applied Genetics, 2024
Phenotypic and genotypic spectrum of noonan syndrome: A retrospective analysis of 46 consecutive pediatric patients presented at a regional cardiac center in China.
Chen Q et al.
Heliyon, 2024
Molecular characterization of gliomas and glioneuronal tumors amid Noonan syndrome: cancer predisposition examined.
Shatara M et al.
Frontiers in Oncology, 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