Associated Papers
Deep mutational scanning of the multi-domain phosphatase SHP2 reveals mechanisms of regulation and pathogenicity.
Jiang Z et al.
Nature Communications, 2025
Germline DNA Repair Gene Mutations and Clonal Hematopoiesis (CH) in 24,849 Patients with BRCA-Associated Cancers.
Marshall CH et al.
Cancers, 2025
Intersection of rare pathogenic variants from TCGA in the All of Us Research Program v6.
Bates BA et al.
Hgg Advances, 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
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
Decoding Missense Variants by Incorporating Phase Separation via Machine Learning.
Feng M et al.
Nature Communications, 2024
Germline variants in patients developing second malignant neoplasms after therapy for pediatric acute lymphoblastic leukemia-a case-control study.
Junk SV et al.
Leukemia, 2024
Tyrosine phosphatase PTPN11/SHP2 in solid tumors - bull's eye for targeted therapy?
Chen X et al.
Frontiers in Immunology, 2024
Protein Tyrosine Phosphatase Non-Receptor 11 (PTPN11/Shp2) as a Driver Oncogene and a Novel Therapeutic Target in Non-Small Cell Lung Cancer (NSCLC).
Richards CE et al.
International Journal of Molecular Sciences, 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
Utility of plasma cell-free DNA for de novo detection and quantification of clonal hematopoiesis.
Gutierrez-Rodrigues F et al.
Haematologica, 2022
Structure-based design of CDC42 effector interaction inhibitors for the treatment of cancer.
Jahid S et al.
Cell Reports, 2022
A genotype-first approach to exploring Mendelian cardiovascular traits with clear external manifestations.
Wenger BM et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Recent Advances of SHP2 Inhibitors in Cancer Therapy: Current Development and Clinical Application.
Yuan X et al.
Journal of Medicinal Chemistry, 2020
Phase Separation of Disease-Associated SHP2 Mutants Underlies MAPK Hyperactivation.
Zhu G et al.
Cell, 2020
Genomic landscape of platinum resistant and sensitive testicular cancers.
Loveday C et al.
Nature Communications, 2020
Therapeutic potential of targeting SHP2 in human developmental disorders and cancers.
Shen D et al.
European Journal of Medicinal Chemistry, 2020
Analysis of 51 proposed hypertrophic cardiomyopathy genes from genome sequencing data in sarcomere negative cases has negligible diagnostic yield.
Thomson KL et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Small Molecule Inhibitor that Stabilizes the Autoinhibited Conformation of the Oncogenic Tyrosine Phosphatase SHP2.
Wu X et al.
Journal of Medicinal Chemistry, 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
Germline mutations in candidate predisposition genes in individuals with cutaneous melanoma and at least two independent additional primary cancers.
Pritchard AL et al.
Plos One, 2018
BRAF(V600E) Kinase Domain Duplication Identified in Therapy-Refractory Melanoma Patient-Derived Xenografts.
Kemper K et al.
Cell Reports, 2016
Acute lymphoblastic leukemia in the context of RASopathies.
Cavé H et al.
European Journal of Medical Genetics, 2016
Exome sequencing identifies recurrent mutations in NF1 and RASopathy genes in sun-exposed melanomas.
Krauthammer M et al.
Nature Genetics, 2015
Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutations.
Kiel C et al.
Molecular Systems Biology, 2014
Identification of cryptotanshinone as an inhibitor of oncogenic protein tyrosine phosphatase SHP2 (PTPN11).
Liu W et al.
Journal of Medicinal Chemistry, 2013
Targeting protein tyrosine phosphatase SHP2 for the treatment of PTPN11-associated malignancies.
Yu B et al.
Molecular Cancer Therapeutics, 2013
Exome sequencing reveals comprehensive genomic alterations across eight cancer cell lines.
Chang H et al.
Plos One, 2011
Mutation of genes affecting the RAS pathway is common in childhood acute lymphoblastic leukemia.
Case M et al.
Cancer Research, 2008
The RAS/MAPK syndromes: novel roles of the RAS pathway in human genetic disorders.
Aoki Y et al.
Human Mutation, 2008
Activating mutations of the noonan syndrome-associated SHP2/PTPN11 gene in human solid tumors and adult acute myelogenous leukemia.
Bentires-Alj M et al.
Cancer Research, 2004