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
Clonal architecture of FLT3-ITD and acquired 13q uniparental disomy define prognostic heterogeneity and therapeutic vulnerabilities in acute myeloid leukemia.
Lai A et al.
Neoplasia (new York, N.y.), 2025
Evolving Features of RASopathies Among Pregnancies With Abnormal Fetal Fluid Collections.
Gulrajani NB 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
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
Clinical and molecular analysis of seventy-one fetal cases with RASopathies.
Yu QX et al.
European Journal of Obstetrics, Gynecology, and Reproductive Biology, 2025
Sequencing validates deep learning models for EHR-based detection of Noonan syndrome in pediatric patients.
Yang Z et al.
Npj Genomic Medicine, 2025
Deep mutational scanning of the multi-domain phosphatase SHP2 reveals mechanisms of regulation and pathogenicity.
Jiang Z et al.
Nature Communications, 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
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
Plastic Bronchitis in Noonan Syndrome: Further Evidence Suggesting a Higher Risk of Lymphatic Abnormalities in Individuals Harboring Variants in PTPN11 Residue p.Phe285.
Pires LVL et al.
Molecular Syndromology, 2025
Ras-MAPK pathway in patients with lupus nephritis.
Zhang C et al.
Lupus Science & Medicine, 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
Trametinib as a targeted treatment in cardiac and lymphatic presentations of Noonan syndrome.
De Brouchoven I et al.
Frontiers in Pediatrics, 2025
Germline activating sequence variations in RASopathy spectrum genes: genotype-phenotype correlation in a North Indian cohort.
Gupta S et al.
Frontiers in Genetics, 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
Refractory Chylothorax and Ventricular Hypertrophy Treated with Trametinib in a Patient with Noonan Syndrome: 18-Month Follow-Up.
Pascarella A et al.
Children (basel, Switzerland), 2024
Variants of the PTPN11 Gene in Mexican Patients with Noonan Syndrome.
Zepeda-Olmos PM et al.
Genes, 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
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
Exploring New Drug Repurposing Opportunities for MEK Inhibitors in RASopathies: A Comprehensive Review of Safety, Efficacy, and Future Perspectives of Trametinib and Selumetinib.
Gazzin A et al.
Life (basel, Switzerland), 2024
RASopathies are the most common set of monogenic syndromes identified by exome sequencing for nonimmune hydrops fetalis: A systematic review and meta-analysis.
Makhamreh MM et al.
American Journal of Medical Genetics. Part A, 2024
Genetic ancestry and diagnostic yield of exome sequencing in a diverse population.
Mavura Y et al.
Npj Genomic Medicine, 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
Noonan syndrome: rhGH treatment and PTPN11 mutation.
Wu X et al.
Molecular Genetics & Genomic Medicine, 2023
Author Correction: Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population.
Slavotinek A et al.
Npj Genomic Medicine, 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
Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population.
Slavotinek A et al.
Npj Genomic Medicine, 2023
Case report: Noonan syndrome with protein-losing enteropathy.
Ou Y et al.
Frontiers in Genetics, 2023
Analysis of the clinical characteristics and prognosis of adult de novo acute myeloid leukemia (none APL) with PTPN11 mutations.
Sheng L et al.
Open Medicine (warsaw, Poland), 2023
Lymphatic anomalies during lifetime in patients with Noonan syndrome: Retrospective cohort study.
Swarts JW et al.
American Journal of Medical Genetics. Part A, 2022
PTPN11 c.853T>C (p.Phe285Leu) mutation in Noonan syndrome with chylothorax.
Watanabe D et al.
Nagoya Journal of Medical Science, 2022
Multiplatform molecular analyses refine classification of gliomas arising in patients with neurofibromatosis type 1.
Lucas CG et al.
Acta Neuropathologica, 2022
Trametinib for Refractory Chylous Effusions and Systemic Complications in Children with Noonan Syndrome.
Nakano TA et al.
The Journal of Pediatrics, 2022
PTPN11 mutations in adult acute myeloid leukaemia: Prevalence and clinical implications in the context of NPM1 mutation.
Liu J et al.
Leukemia Research, 2022
Clinical characteristics and survival of children with hypertrophic cardiomyopathy in China: A multicentre retrospective cohort study.
Chan W et al.
Eclinicalmedicine, 2022
The longitudinal dynamics and natural history of clonal haematopoiesis.
Fabre MA et al.
Nature, 2022
Comprehensive Genetic Analysis of RASopathy in the Era of Next-Generation Sequencing and Definition of a Novel Likely Pathogenic >KRAS Variation.
Demir S et al.
Molecular Syndromology, 2022