Associated Papers
Whole Exome Sequencing Based Diagnostics in Complex Childhood Epilepsy Syndromes-A Cohort Study on Clinical Utility.
Fasaludeen A et al.
Clinical Genetics, 2026
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
Understanding Molecular Basis of PTPN11-Related Diseases.
Um S et al.
Arxiv, 2025
Diffuse midline glioma with extra central nervous system metastases in the pediatric, adolescent, and young adult population.
Giantini-Larsen AM et al.
Child's Nervous System : Chns : Official Journal of the International Society for Pediatric Neurosurgery, 2025
Deep mutational scanning of the multi-domain phosphatase SHP2 reveals mechanisms of regulation and pathogenicity.
Jiang Z et al.
Nature Communications, 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
Genomic ascertainment to quantify prevalence and cancer risk in adults with pathogenic and likely pathogenic germline variants in RASopathy genes.
Kim J et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Decoding Missense Variants by Incorporating Phase Separation via Machine Learning.
Feng M et al.
Nature Communications, 2024
A novel variant in PTPN11, c.1277A>G p.(His426Arg), in a patient with Noonan syndrome with multiple lentigines.
Kuo O et al.
Clinical and Experimental Dermatology, 2024
Prion-like domain mediated phase separation of ARID1A promotes oncogenic potential of Ewing's sarcoma.
Kim YR et al.
Nature Communications, 2024
Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.
Wei J et al.
Plos Biology, 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
A multitiered analysis platform for genome sequencing: Design and initial findings of the Australian Genomics Cardiovascular Disorders Flagship.
Austin R et al.
Genetics in Medicine Open, 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
Mutations in circulating tumor DNA detected in the postoperative period predict poor survival in patients with ovarian cancer.
Chao A et al.
Biomedical Journal, 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
LEOPARD Syndrome with a Sporadic PTPN11 Mutation in a Saudi Patient.
Alshamrani HM et al.
Case Reports in Dermatological Medicine, 2023
Phase-Separated Subcellular Compartmentation and Related Human Diseases.
Zhang L et al.
International Journal of Molecular Sciences, 2022
Noonan Syndrome with Multiple Lentigines and PTPN11 Mutation: A Case with Intracerebral Hemorrhage.
Orrego-González E et al.
Molecular Syndromology, 2021
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
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
Analysis on GENIE reveals novel recurrent variants that affect molecular diagnosis of sizable number of cancer patients.
Koyama T et al.
Bmc Cancer, 2019
Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes.
Ingles J et al.
Circulation. Genomic and Precision Medicine, 2019
Germline Predisposition and Copy Number Alteration in Pre-stage Lung Adenocarcinomas Presenting as Ground-Glass Nodules.
Ren Y et al.
Frontiers in Oncology, 2019
Evolutionarily Conserved Allosteric Communication in Protein Tyrosine Phosphatases.
Hjortness MK et al.
Biochemistry, 2018
Nonreentrant atrial tachycardia occurs independently of hypertrophic cardiomyopathy in RASopathy patients.
Levin MD et al.
American Journal of Medical Genetics. Part A, 2018
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
Pathogenesis of multiple lentigines in LEOPARD syndrome with PTPN11 gene mutation.
Motegi S et al.
Acta Dermato-venereologica, 2015
Beyond BRAF(V600): clinical mutation panel testing by next-generation sequencing in advanced melanoma.
Siroy AE et al.
The Journal of Investigative Dermatology, 2015
A PTPN11 allele encoding a catalytically impaired SHP2 protein in a patient with a Noonan syndrome phenotype.
Edwards JJ et al.
American Journal of Medical Genetics. Part A, 2014
Molecular basis of gain-of-function LEOPARD syndrome-associated SHP2 mutations.
Yu ZH et al.
Biochemistry, 2014
Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutations.
Kiel C et al.
Molecular Systems Biology, 2014
LEOPARD syndrome with recurrent PTPN11 mutation Y279C and different cutaneous manifestations: two case reports and a review of the literature.
Kalev I et al.
European Journal of Pediatrics, 2010
A novel PTPN11 missense mutation in a patient with LEOPARD syndrome.
Osawa R et al.
The British Journal of Dermatology, 2009
High resolution melting analysis for mutation detection for PTPN11 gene: applications of this method for diagnosis of Noonan syndrome.
Lo FS et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2009
Genotype-phenotype analysis and natural history of left ventricular hypertrophy in LEOPARD syndrome.
Limongelli G et al.
American Journal of Medical Genetics. Part A, 2008
A Novel A461S Mutation of PTPN11 in a Female with LEOPARD Syndrome.
Yoshida R et al.
Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology, 2008
Prevalence and clinical significance of cardiovascular abnormalities in patients with the LEOPARD syndrome.
Limongelli G et al.
The American Journal of Cardiology, 2007
PTPN11 gene mutations: linking the Gln510Glu mutation to the "LEOPARD syndrome phenotype".
Digilio MC et al.
European Journal of Pediatrics, 2006
Reduced phosphatase activity of SHP-2 in LEOPARD syndrome: consequences for PI3K binding on Gab1.
Hanna N et al.
Febs Letters, 2006
Genetic heterogeneity in LEOPARD syndrome: two families with no mutations in PTPN11.
Kalidas K et al.
Journal of Human Genetics, 2005
Clinical and molecular analysis of 30 patients with multiple lentigines LEOPARD syndrome.
Sarkozy A et al.
Journal of Medical Genetics, 2004
Genetic and phenotypic heterogeneity of multiple lentigines and precise diagnosis in four Chinese families with multiple lentigines.
Guo K et al.
Pigment Cell & Melanoma Research, 0