Associated Papers
Clinical characteristics of 41 children with hypertrophic cardiomyopathy: A single-center retrospective study.
Li SG et al.
The Journal of International Medical Research, 2025
Understanding Molecular Basis of PTPN11-Related Diseases.
Um S et al.
Arxiv, 2025
Genomic profiling in hepatocellular carcinoma: a real-world retrospective analysis.
Salani F et al.
Esmo Open, 2025
Deep mutational scanning of the multi-domain phosphatase SHP2 reveals mechanisms of regulation and pathogenicity.
Jiang Z et al.
Nature Communications, 2025
Genetic variations in PTPN11 lead to a recurrent left ventricular outflow tract obstruction phenotype in childhood hypertrophic cardiomyopathy.
Liu S et al.
The Journal of Thoracic and Cardiovascular Surgery, 2025
Three Novel Pathogenic Variants in Unrelated Vietnamese Patients with Cardiomyopathy.
Tran DD et al.
Diagnostics (basel, Switzerland), 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
Noonan Syndrome: Relation of Genotype to Cardiovascular Phenotype-A Multi-Center Retrospective Study.
Ilic N et al.
Genes, 2024
Decoding Missense Variants by Incorporating Phase Separation via Machine Learning.
Feng M et al.
Nature Communications, 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
LEOPARD syndrome with accelerated idioventricular rhythm and systolic anterior motion of the posterior mitral leaflet: a case report.
Wada N et al.
European Heart Journal. Case Reports, 2024
MEK Inhibition for RASopathy-Associated Hypertrophic Cardiomyopathy: Clinical Application of a Basic Concept.
Chaput D et al.
The Canadian Journal of Cardiology, 2024
Paternally Inherited Noonan Syndrome Caused by a PTPN11 Variant May Exhibit Mild Symptoms: A Case Report and Literature Review.
Han JY et al.
Genes, 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
PTPN11 variant may be a prognostic indicator of IDH-wildtype glioblastoma in a comprehensive genomic profiling cohort.
Otani R et al.
Journal of Neuro-oncology, 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
LEOPARD Syndrome with a Sporadic PTPN11 Mutation in a Saudi Patient.
Alshamrani HM et al.
Case Reports in Dermatological Medicine, 2023
New insights on Noonan syndrome's clinical phenotype: a single center retrospective study.
Baldo F et al.
Bmc Pediatrics, 2022
Clinical characteristics and survival of children with hypertrophic cardiomyopathy in China: A multicentre retrospective cohort study.
Chan W et al.
Eclinicalmedicine, 2022
[The clinical phenotype and gene analysis of syndromic deafness with PTPN11 gene mutation].
Gao Y et al.
Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi = Chinese Journal of Otorhinolaryngology Head and Neck Surgery, 2022
Cell cycle defects underlie childhood-onset cardiomyopathy associated with Noonan syndrome.
Meier AB et al.
Iscience, 2022
Application of CRISPR-Cas9 gene editing for congenital heart disease.
Seok H et al.
Clinical and Experimental Pediatrics, 2021
Phenotype-genotype analysis of 242 individuals with RASopathies: 18-year experience of a tertiary center in Brazil.
Bertola DR et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2020
An allosteric interaction controls the activation mechanism of SHP2 tyrosine phosphatase.
Anselmi M et al.
Scientific Reports, 2020
Phase Separation of Disease-Associated SHP2 Mutants Underlies MAPK Hyperactivation.
Zhu G et al.
Cell, 2020
Identification of pathogenic missense mutations using protein stability predictors.
Gerasimavicius L et al.
Scientific Reports, 2020
Connecting the dots between SHP2 and glutamate receptors.
Ryu HH et al.
The Korean Journal of Physiology & Pharmacology : Official Journal of the Korean Physiological Society and the Korean Society of Pharmacology, 2020
PEDIA: prioritization of exome data by image analysis.
Hsieh TC et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Cardiac transplantation in children with Noonan syndrome.
McCallen LM et al.
Pediatric Transplantation, 2019
Noonan syndrome with multiple lentigines and prominent keratosis pilaris.
Fernández-Canga P et al.
Journal Der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : Jddg, 2019
Dermatological manifestations in Noonan syndrome: a prospective multicentric study of 129 patients positive for mutation.
Bessis D et al.
The British Journal of Dermatology, 2019
Genetic landscape of RASopathies in Chinese: Three decades' experience in Hong Kong.
Yu KPT et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2019
Genetic basis of hypertrophic cardiomyopathy in children.
Rupp S et al.
Clinical Research in Cardiology : Official Journal of the German Cardiac Society, 2019
Prevalence of Noonan spectrum disorders in a pediatric population with valvar pulmonary stenosis.
Anderson K et al.
Congenital Heart Disease, 2019
Clinical and mutation profile of pediatric patients with RASopathy-associated hypertrophic cardiomyopathy: results from a Chinese cohort.
Chen H et al.
Orphanet Journal of Rare Diseases, 2019
PTPN11 Plays Oncogenic Roles and Is a Therapeutic Target for BRAF Wild-Type Melanomas.
Hill KS et al.
Molecular Cancer Research : Mcr, 2019
Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes.
Ingles J et al.
Circulation. Genomic and Precision Medicine, 2019
Accelerated Cardiomyocyte Proliferation in the Heart of a Neonate With LEOPARD Syndrome-Associated Fatal Cardiomyopathy.
Nakagama Y et al.
Circulation. Heart Failure, 2018
Decoding disease-causing mechanisms of missense mutations from supramolecular structures.
Hijikata A et al.
Scientific Reports, 2017
Molecular screening strategies for NF1-like syndromes with café-au-lait macules (Review).
Zhang J et al.
Molecular Medicine Reports, 2016
Identification of a PTPN11 hot spot mutation in a child with atypical LEOPARD syndrome.
Zhang J et al.
Molecular Medicine Reports, 2016
Paraspinal neurofibromas and hypertrophic neuropathy in Noonan syndrome with multiple lentigines.
Conboy E et al.
Journal of Medical Genetics, 2016
Clinical detection of deletion structural variants in whole-genome sequences.
Noll AC et al.
Npj Genomic Medicine, 2016
Pathogenesis of multiple lentigines in LEOPARD syndrome with PTPN11 gene mutation.
Motegi S et al.
Acta Dermato-venereologica, 2015
Whole-genome sequencing for identification of Mendelian disorders in critically ill infants: a retrospective analysis of diagnostic and clinical findings.
Willig LK et al.
The Lancet. Respiratory Medicine, 2015