Associated Papers
Clinical Spectrum of Noonan Syndrome-Associated Myeloproliferative Disorder.
Hirabayashi S et al.
American Journal of Hematology, 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
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
A structural machine learning approach for rapid prediction of thermodynamically destabilizing tyrosine phosphorylations.
Woodard J et al.
Cell Reports Methods, 2025
Non-isolated tetralogy of fallot (TOF+): exome sequencing efficacy and phenotypic expansions.
Volpi J et al.
European Journal of Human Genetics : Ejhg, 2025
A Hotspot Phosphorylation Site on SHP2 Drives Oncoprotein Activation and Drug Resistance.
Karunaraj P et al.
Research Square, 2025
CoDIAC: A comprehensive approach for interaction analysis reveals novel insights into SH2 domain function and regulation.
Kandoor A 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
A Hotspot Phosphorylation Site on SHP2 Drives Oncoprotein Activation and Drug Resistance.
Karunaraj P et al.
Biorxiv : the Preprint Server for Biology, 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
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
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
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
VarMeter2: An enhanced structure-based method for predicting pathogenic missense variants through Mahalanobis distance.
Ohno S et al.
Computational and Structural Biotechnology Journal, 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
Noonan Syndrome: Relation of Genotype to Cardiovascular Phenotype-A Multi-Center Retrospective Study.
Ilic N et al.
Genes, 2024
Variants of the PTPN11 Gene in Mexican Patients with Noonan Syndrome.
Zepeda-Olmos PM 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
Diagnostic yield after next-generation sequencing in pediatric cardiovascular disease.
Slavotinek AM et al.
Hgg Advances, 2024
SHP2 as a primordial epigenetic enzyme expunges histone H3 pTyr-54 to amend androgen receptor homeostasis.
Chouhan S et al.
Nature Communications, 2024
High frequency of hotspot mutation in PTPN11 gene among Moroccan patients with Noonan syndrome.
Ouboukss F et al.
Journal of Applied Genetics, 2024
FLT3 and IRAK4 Inhibitor Emavusertib in Combination with BH3-Mimetics in the Treatment of Acute Myeloid Leukemia.
Seipel K et al.
Current Issues in Molecular Biology, 2024
Mutations in PTPN11 could lead to a congenital myasthenic syndrome phenotype: a Noonan syndrome case series.
Pugliese A et al.
Journal of Neurology, 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
Genotypic Findings in Noonan and Non-Noonan RASopathies and Patient Eligibility for Growth Hormone Treatment.
Carcavilla A et al.
Journal of Clinical Medicine, 2023
Setting sail: Maneuvering SHP2 activity and its effects in cancer.
Welsh CL et al.
Advances in Cancer Research, 2023
Case report: Noonan syndrome with protein-losing enteropathy.
Ou Y et al.
Frontiers in Genetics, 2023
Germline selection of PTPN11 (HGNC:9644) variants make a major contribution to both Noonan syndrome's high birth rate and the transmission of sporadic cancer variants resulting in fetal abnormality.
Eboreime J et al.
Human Mutation, 2022
Aberrant EVI1 splicing contributes to EVI1-rearranged leukemia.
Tanaka A et al.
Blood, 2022