Associated Papers
Clinical Spectrum of Noonan Syndrome-Associated Myeloproliferative Disorder.
Hirabayashi S et al.
American Journal of Hematology, 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
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
Evolving Features of RASopathies Among Pregnancies With Abnormal Fetal Fluid Collections.
Gulrajani NB et al.
Prenatal Diagnosis, 2025
Clinical exome sequencing efficacy and phenotypic expansions involving non-isolated congenital anomalies of kidney and urinary tract (CAKUT+).
Rivera-Munoz EA et al.
European Journal of Human Genetics : Ejhg, 2025
Understanding Molecular Basis of PTPN11-Related Diseases.
Um S et al.
Arxiv, 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
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
Second Trimester Ultrasound Diagnosis of External Hydrocephalus in Two Fetuses with Noonan Syndrome-Case Report Series.
Elekes T et al.
Journal of Clinical Medicine, 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
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