Associated Papers
Activating Ras-MAPK pathway variants drive hippocampal clonal competition in human epilepsy.
Khoshkhoo S et al.
Biorxiv : the Preprint Server for Biology, 2026
Somatic Mutation Profiling and Therapeutic Landscape of Breast Cancer in the MENA Region.
Velayutham D et al.
Cells, 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
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
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
Genotypic Findings in Noonan and Non-Noonan RASopathies and Patient Eligibility for Growth Hormone Treatment.
Carcavilla A et al.
Journal of Clinical Medicine, 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
Early dynamics of circulating tumor DNA predict clinical response to immune checkpoint inhibitors in metastatic renal cell carcinoma.
Koh Y et al.
International Journal of Urology : Official Journal of the Japanese Urological Association, 2022
Multiclonal complexity of pediatric acute lymphoblastic leukemia and the prognostic relevance of subclonal mutations
Antić Ž et al.
Haematologica, 2021
Comparative Analysis of Genetic Alterations, HPV-Status, and PD-L1 Expression in Neuroendocrine Carcinomas of the Cervix.
Takayanagi D et al.
Cancers, 2021
Defining language disorders in children and adolescents with Noonan Syndrome.
Lazzaro G et al.
Molecular Genetics & Genomic Medicine, 2020
Pan-cancer whole-genome analyses of metastatic solid tumours.
Priestley P et al.
Nature, 2019
Clonal Evolution and Changes in Two AML Patients Detected with A Novel Single-Cell DNA Sequencing Platform.
Xu L et al.
Scientific Reports, 2019
Persistence of pre-leukemic clones during first remission and risk of relapse in acute myeloid leukemia.
Rothenberg-Thurley M et al.
Leukemia, 2018
The genomic landscape of malignant peripheral nerve sheath tumors: diverse drivers of Ras pathway activation.
Brohl AS et al.
Scientific Reports, 2017
Novel mutations in PTPN11 gene in two girls with Noonan syndrome phenotype.
Gulec EY et al.
International Journal of Cardiology, 2015
The mutational spectrum of PTPN11 in juvenile myelomonocytic leukemia and Noonan syndrome/myeloproliferative disease.
Kratz CP et al.
Blood, 2005