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
PTPN11-Related Noonan Syndrome Predisposes to Multifocal Low-Grade CNS Tumors Harboring FGFR1 Variants.
Kohanbash G et al.
Research Square, 2026
Activating Ras-MAPK pathway variants drive hippocampal clonal competition in human epilepsy.
Khoshkhoo S et al.
Biorxiv : the Preprint Server for Biology, 2026
Genetics of GH Deficiency: Insights From a Cohort of 203 Patients.
Ribeiro AC et al.
The Journal of Clinical Endocrinology and Metabolism, 2026
Phosphatase SHP2 pathogenic mutations enhance activity by altering conformational sampling.
Glaser AW et al.
Proceedings of the National Academy of Sciences of the United States of America, 2026
Spectrum of DNA Variants Underlying Deafness in an Ecuadorian Cohort.
Reinoso-Castillo A et al.
Biochemical Genetics, 2026
Proximity-labeling proteomics reveals remodeled interactomes and altered localization of pathogenic SHP2 variants.
van Vlimmeren AE et al.
Embo Reports, 2025
Phosphatase SHP2 pathogenic mutations enhance activity by altering conformational sampling.
Glaser AW et al.
Biorxiv : the Preprint Server for Biology, 2025
Noonan Syndrome, Cancer Risk, and Growth Hormone Treatment
Demir K et al.
Journal of Clinical Research in Pediatric Endocrinology, 2025
The pathogenic E139D mutation stabilizes a non-canonical active state of the multi-domain phosphatase SHP2.
van Vlimmeren AE et al.
Protein Science : a Publication of the Protein Society, 2025
Proteomic subtypes enrich current acute myeloid leukemia nomenclature and reflect intrinsic pathogenesis alongside aging.
Cheng WY et al.
Blood, 2025
Molecular and Clinical Profiles of Patients with RASopathies: Targeted Next-Generation Sequencing Panel Results and Identification of 14 Novel Disease-Causing Variants.
Ates K et al.
Molecular Syndromology, 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
The pathogenic E139D mutation stabilizes a non-canonical active state of the multi-domain phosphatase SHP2.
van Vlimmeren AE et al.
Biorxiv : the Preprint Server for Biology, 2025
Noonan Syndrome and Rett Syndrome in An 8-Year-Old Girl With A Tectal Neoplasm.
Shetty N et al.
Jcem Case Reports, 2025
Evaluating genome sequencing strategies: trio, singleton, and standard testing in rare disease diagnosis.
Kaschta D et al.
Genome Medicine, 2025
Proximity-labeling proteomics reveals remodeled interactomes and altered localization of pathogenic SHP2 variants.
van Vlimmeren AE et al.
Biorxiv : the Preprint Server for Biology, 2025
Contribution of rare coding variants to microcephaly in individuals with neurodevelopmental disorders.
Yoon JG et al.
Genome Medicine, 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
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
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