Associated Papers
Understanding Molecular Basis of PTPN11-Related Diseases.
Um S et al.
Arxiv, 2025
Common Diseases in Clinical Cohorts - Not Always What They Seem.
Rahimov F et al.
The New England Journal of Medicine, 2025
Deep mutational scanning of the multi-domain phosphatase SHP2 reveals mechanisms of regulation and pathogenicity.
Jiang Z et al.
Nature Communications, 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
Genetic and clinical characteristics of genetic tumor syndromes in the central nervous system cancers: Implications for clinical practice.
Wang C et al.
Iscience, 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
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
Multiple central giant cell granuloma of the jaws: diagnostic signposts of Noonan syndrome and RASopathy.
Friedrich RE et al.
Oral and Maxillofacial Surgery, 2024
Genetic Testing for Supravalvar Aortic Stenosis: What to Do When It Is Not Williams Syndrome.
Stephens SB et al.
Journal of the American Heart Association, 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
Genotypic Findings in Noonan and Non-Noonan RASopathies and Patient Eligibility for Growth Hormone Treatment.
Carcavilla A et al.
Journal of Clinical Medicine, 2023
Lymphatic anomalies during lifetime in patients with Noonan syndrome: Retrospective cohort study.
Swarts JW et al.
American Journal of Medical Genetics. Part A, 2022
Recent Advances of SHP2 Inhibitors in Cancer Therapy: Current Development and Clinical Application.
Yuan X et al.
Journal of Medicinal Chemistry, 2020
Identification of pathogenic missense mutations using protein stability predictors.
Gerasimavicius L et al.
Scientific Reports, 2020
Pathogenic PTPN11 variants involving the poly-glutamine Gln255 -Gln256 -Gln257 stretch highlight the relevance of helix B in SHP2's functional regulation.
Martinelli S et al.
Human Mutation, 2020
Molecular and clinical studies in 107 Noonan syndrome affected individuals with PTPN11 mutations.
Athota JP et al.
Bmc Medical Genetics, 2020
A PTPN11 mutation in a woman with Noonan syndrome and protein-losing enteropathy.
Wang N et al.
Bmc Gastroenterology, 2020
Prenatal ultrasound findings of rasopathies in a cohort of 424 fetuses: update on genetic testing in the NGS era.
Stuurman KE et al.
Journal of Medical Genetics, 2019
Decoding disease-causing mechanisms of missense mutations from supramolecular structures.
Hijikata A et al.
Scientific Reports, 2017
Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutations.
Kiel C et al.
Molecular Systems Biology, 2014
Diagnosis of Noonan syndrome and related disorders using target next generation sequencing.
Lepri FR et al.
Bmc Medical Genetics, 2014
PTPN11-associated mutations in the heart: has LEOPARD changed Its RASpots?
Lauriol J et al.
Trends in Cardiovascular Medicine, 2011
The RAS/MAPK syndromes: novel roles of the RAS pathway in human genetic disorders.
Aoki Y et al.
Human Mutation, 2008
The tyrosine phosphatase Shp2 (PTPN11) in cancer.
Chan G et al.
Cancer Metastasis Reviews, 2008
Mutation analysis of PTPN11 in Noonan syndrome by WAVE.
Elanko N et al.
Methods in Molecular Medicine, 2006
PTPN11 mutations are associated with mild growth hormone resistance in individuals with Noonan syndrome.
Binder G et al.
The Journal of Clinical Endocrinology and Metabolism, 2005
Spectrum of mutations in PTPN11 and genotype-phenotype correlation in 96 patients with Noonan syndrome and five patients with cardio-facio-cutaneous syndrome.
Musante L et al.
European Journal of Human Genetics : Ejhg, 2003