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
VarMeter2: An enhanced structure-based method for predicting pathogenic missense variants through Mahalanobis distance.
Ohno S et al.
Computational and Structural Biotechnology Journal, 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
The landscape of rare genetic variants in familial Waldenström macroglobulinemia.
Pemov A et al.
Blood Neoplasia, 2024
Molecular characterization of gliomas and glioneuronal tumors amid Noonan syndrome: cancer predisposition examined.
Shatara M et al.
Frontiers in Oncology, 2024
Exploring the Genetic Causes for Postnatal Growth Failure in Children Born Non-Small for Gestational Age.
Kim YM et al.
Journal of Clinical Medicine, 2023
GeneTerpret: a customizable multilayer approach to genomic variant prioritization and interpretation.
Manshaei R et al.
Bmc Medical Genomics, 2022
Multiclonal complexity of pediatric acute lymphoblastic leukemia and the prognostic relevance of subclonal mutations
Antić Ž et al.
Haematologica, 2021
Clinical variability of neurofibromatosis 1: A modifying role of cooccurring PTPN11 variants and atypical brain MRI findings.
D'Amico A et al.
Clinical Genetics, 2021
Identification of pathogenic missense mutations using protein stability predictors.
Gerasimavicius L et al.
Scientific Reports, 2020
The Cardiac Genome Clinic: implementing genome sequencing in pediatric heart disease.
Reuter MS et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Isoform-specific NF1 mRNA levels correlate with disease severity in Neurofibromatosis type 1.
Assunto A et al.
Orphanet Journal of Rare Diseases, 2019
Targeted/exome sequencing identified mutations in ten Chinese patients diagnosed with Noonan syndrome and related disorders.
Xu S et al.
Bmc Medical Genomics, 2017
Germline susceptibility from broad genomic profiling of pediatric brain cancers.
Mardis ER et al.
Neuro-oncology Advances, 0