Associated Papers
Clinical Spectrum of Noonan Syndrome-Associated Myeloproliferative Disorder.
Hirabayashi S et al.
American Journal of Hematology, 2026
Genotype-Phenotype Analysis and New Clinical Findings in a Series of 24 Patients Presenting with Noonan Syndrome and Related Disorders.
Corso BM et al.
Molecular Syndromology, 2026
Unexpected genotypes associated with severe paediatric conditions identified in a healthy population cohort.
Bylstra Y et al.
European Journal of Human Genetics : Ejhg, 2026
Cochlear Implantation in a Patient With Noonan Syndrome and Enlarged Cochlear Apertures.
Yang KS et al.
The Laryngoscope, 2026
Clonal hematopoiesis associates with prevalent and incident cardiometabolic disease in a cardiac catheterization cohort.
Regan JA et al.
Plos One, 2026
Clinical and Molecular Features of Ciliopathies Diagnosed by Prenatal Exome Sequencing in Fetuses With Ultrasound Abnormalities.
Zhu X et al.
Prenatal Diagnosis, 2025
Clinical experience of using integrated whole genome and transcriptome sequencing as a framework for pediatric and adolescent acute myeloid leukemia diagnosis and risk assessment.
Voss RK et al.
Leukemia, 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
Clinical and molecular analysis of seventy-one fetal cases with RASopathies.
Yu QX et al.
European Journal of Obstetrics, Gynecology, and Reproductive Biology, 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
Optimising diagnosis in children with short stature: an integrated clinical and NGS approach.
Guazzarotti L et al.
Endocrine Connections, 2025
Molecular targeted treatment in infants with central conducting lymphatic anomalies.
van den Brink VC et al.
European Journal of Pediatrics, 2025
A Hotspot Phosphorylation Site on SHP2 Drives Oncoprotein Activation and Drug Resistance.
Karunaraj P et al.
Research Square, 2025
Clinical whole genome sequencing in pediatric epilepsy: Genetic and phenotypic spectrum of 733 individuals.
Henry OJ et al.
Epilepsia, 2025
Computational modeling of human genetic variants in mice.
Dong K 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
Circulating Tumor DNA in Advanced EGFRex20+ NSCLC: Concordance with Tissue Biopsy, Monitoring of Response, and Resistance to High-Dose Osimertinib.
Zwierenga F et al.
Targeted Oncology, 2025
Phenotypic and Genotypic Characterization of 171 Patients with Syndromic Inherited Retinal Diseases Highlights the Importance of Genetic Testing for Accurate Clinical Diagnosis.
Kulyamzin S et al.
Genes, 2025
Yield of RASopathy Gene Panel in Karyotype-Normal or Microarray-Normal Fetuses With Increased Nuchal Translucency: A Systematic Review and Meta-Analysis.
Powel JE et al.
O&g Open, 2025
UNISOM: Unified Somatic Calling and Machine Learning-based Classification Enhance the Discovery of CHIP.
Tian S et al.
Genomics, Proteomics & Bioinformatics, 2025
Protein-losing enteropathy and multiple vasculature dysplasia in LZTR1-related Noonan syndrome: A case report and review of literature.
Tian QJ et al.
World Journal of Gastroenterology, 2025
Clonal hematopoiesis is associated with distinct rheumatoid arthritis phenotypes.
Hiitola E et al.
Science Advances, 2025
Non-invasive prenatal testing for dominant single-gene disorders using targeted next-generation sequencing.
Zhang H et al.
Qjm : Monthly Journal of the Association of Physicians, 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
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
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
Emergence and Cytogenetic Clonal Evolution of Chromosome 7 Abnormalities in Myeloid Malignancies: Investigating the Role of Telomere Dysfunction.
Baldazzi C et al.
International Journal of Molecular Sciences, 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
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
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
Trametinib as a targeted treatment in cardiac and lymphatic presentations of Noonan syndrome.
De Brouchoven I et al.
Frontiers in Pediatrics, 2025
VarMeter2: An enhanced structure-based method for predicting pathogenic missense variants through Mahalanobis distance.
Ohno S et al.
Computational and Structural Biotechnology Journal, 2025
Unraveling genetic etiologies in complex pediatric neurological diseases: A genetic investigation using whole exome sequencing.
Gaouzi Z et al.
Plos One, 2025
Clinical features and molecular genetics of patients with RASopathies: expanding the phenotype with rare genes and novel variants.
Yılmaz Uzman C et al.
European Journal of Pediatrics, 2024
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