Associated Papers
Noonan Syndrome, Cancer Risk, and Growth Hormone Treatment
Demir K et al.
Journal of Clinical Research in Pediatric Endocrinology, 2025
Deep mutational scanning of the multi-domain phosphatase SHP2 reveals mechanisms of regulation and pathogenicity.
Jiang Z et al.
Nature Communications, 2025
Comprehensive Evaluation of a 1021-Gene Panel in FFPE and Liquid Biopsy for Analytical and Clinical Use.
Meintani A et al.
International Journal of Molecular Sciences, 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
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
Comparison of the ABC and ACMG systems for variant classification.
Houge G et al.
European Journal of Human Genetics : Ejhg, 2024
Pathophysiologic and clinical implications of molecular profiles resultant from deletion 5q.
Adema V et al.
Ebiomedicine, 2022
The longitudinal dynamics and natural history of clonal haematopoiesis.
Fabre MA et al.
Nature, 2022
Identification of pathogenic missense mutations using protein stability predictors.
Gerasimavicius L et al.
Scientific Reports, 2020
Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.
Akhavanfard S et al.
Nature Communications, 2020
Mutational landscape and genetic signatures of cell-free DNA in tumour-induced osteomalacia.
Wu N et al.
Journal of Cellular and Molecular Medicine, 2020
Molecular and clinical studies in 107 Noonan syndrome affected individuals with PTPN11 mutations.
Athota JP et al.
Bmc Medical Genetics, 2020
Analytical Validation of a Hybrid Capture-Based Next-Generation Sequencing Clinical Assay for Genomic Profiling of Cell-Free Circulating Tumor DNA.
Clark TA et al.
The Journal of Molecular Diagnostics : Jmd, 2018
Genomics alterations of metastatic and primary tissues across 15 cancer types.
Liu G et al.
Scientific Reports, 2017
The lymphatic phenotype in Noonan and Cardiofaciocutaneous syndrome.
Joyce S et al.
European Journal of Human Genetics : Ejhg, 2016
Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutations.
Kiel C et al.
Molecular Systems Biology, 2014
The RAS/MAPK syndromes: novel roles of the RAS pathway in human genetic disorders.
Aoki Y et al.
Human Mutation, 2008
Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia.
Tartaglia M et al.
Nature Genetics, 2003