Associated Papers
Clinical Spectrum of Noonan Syndrome-Associated Myeloproliferative Disorder.
Hirabayashi S et al.
American Journal of Hematology, 2026
Activating Ras-MAPK pathway variants drive hippocampal clonal competition in human epilepsy.
Khoshkhoo S et al.
Biorxiv : the Preprint Server for Biology, 2026
First 2-year experience of nationwide newborn screening for severe forms of T and B cell immunodeficiency: 2.3 million newborns analyzed using TREC and KREC in Russia.
Marakhonov A et al.
Frontiers in Immunology, 2026
Noonan Syndrome, Cancer Risk, and Growth Hormone Treatment
Demir K et al.
Journal of Clinical Research in Pediatric Endocrinology, 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 application of whole exome sequencing (WES) in the genetic diagnosis of 768 Chinese patients with bilateral hearing loss.
Kang H et al.
European Journal of Human Genetics : Ejhg, 2025
Leveraging genomic diagnostics for prognostics and therapeutics in pediatric acute leukemia.
Newman H et al.
Hemasphere, 2025
A diverse landscape of FGFR alterations and co-mutations suggests potential therapeutic strategies in pediatric low-grade gliomas.
Apfelbaum AA et al.
Nature Communications, 2025
Deep mutational scanning of the multi-domain phosphatase SHP2 reveals mechanisms of regulation and pathogenicity.
Jiang Z et al.
Nature Communications, 2025
A Comprehensive Guide to Achieving New York State Clinical Laboratory Evaluation Program Approval for Next-Generation Sequencing Assays.
Galbo PM et al.
The Journal of Molecular Diagnostics : Jmd, 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
Persistent postremission clonal hematopoiesis shapes the relapse trajectories of acute myeloid leukemia.
Chow RD et al.
Blood Advances, 2025
Gene signatures and genotype-phenotype correlations of sensorineural hearing loss in Noonan syndrome and related RASopathies.
Lee SJ et al.
Scientific Reports, 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
Targeted mutational profiling of Epstein Barr virus-positive mucocutaneous ulcer: Implications for differential diagnosis with EBV-positive diffuse large B-cell lymphoma.
Volaric AK et al.
Annals of Diagnostic Pathology, 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
Variants of the PTPN11 Gene in Mexican Patients with Noonan Syndrome.
Zepeda-Olmos PM et al.
Genes, 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
Noonan syndrome and Noonan-like syndrome with loose anagen hair: rare phenotypes may emerge during follow-up.
Liu Z et al.
Translational Pediatrics, 2024
Clinical exome sequencing uncovers genetic disorders in neonates with suspected hypoxic-ischemic encephalopathy: A retrospective analysis.
Parobek CM et al.
Clinical Genetics, 2024
Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.
Wei J et al.
Plos Biology, 2024
The evolutionary impact of childhood cancer on the human gene pool.
Stoltze UK et al.
Nature Communications, 2024
Tyrosine phosphatase PTPN11/SHP2 in solid tumors - bull's eye for targeted therapy?
Chen X et al.
Frontiers in Immunology, 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
Cell phenotypes can be predicted from propensities of protein conformations.
Nussinov R et al.
Current Opinion in Structural Biology, 2023
UBTF Tandem Duplications in Pediatric MDS and AML: Implications for Clinical Screening and Diagnosis.
Barajas JM et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
Noonan syndrome: rhGH treatment and PTPN11 mutation.
Wu X et al.
Molecular Genetics & Genomic Medicine, 2023
Somatic mutational landscape of hereditary hematopoietic malignancies caused by germline variants in RUNX1, GATA2, and DDX41.
Homan CC et al.
Blood Advances, 2023
Chromosome Microarray Analysis and Exome Sequencing: Implementation in Prenatal Diagnosis of Fetuses with Digestive System Malformations.
Wang Y et al.
Genes, 2023
Interaction between myelodysplasia-related gene mutations and ontogeny in acute myeloid leukemia.
McCarter JGW et al.
Blood Advances, 2023
Clinical and genetic evaluation of children with short stature of unknown origin.
Zhao Q et al.
Bmc Medical Genomics, 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
Postazacitidine clone size predicts long-term outcome of patients with myelodysplastic syndromes and related myeloid neoplasms.
Nannya Y et al.
Blood Advances, 2023
Integrated multi-omics for rapid rare disease diagnosis on a national scale.
Lunke S et al.
Nature Medicine, 2023
Protein Tyrosine Phosphatase Non-Receptor 11 (PTPN11/Shp2) as a Driver Oncogene and a Novel Therapeutic Target in Non-Small Cell Lung Cancer (NSCLC).
Richards CE et al.
International Journal of Molecular Sciences, 2023
Contribution of Somatic Ras/Raf/Mitogen-Activated Protein Kinase Variants in the Hippocampus in Drug-Resistant Mesial Temporal Lobe Epilepsy.
Khoshkhoo S et al.
Jama Neurology, 2023