Associated Papers
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
Targeted next-generation sequencing of 491 lung cancers in clinical practice: Implications for future detection strategy and targeted therapy.
Liu XD et al.
Heliyon, 2024
Inflammation in the tumor-adjacent lung as a predictor of clinical outcome in lung adenocarcinoma.
Dolgalev I et al.
Nature Communications, 2023
Mosaicism in Tumor Suppressor Gene Syndromes: Prevalence, Diagnostic Strategies, and Transmission Risk.
Chen JL et al.
Annual Review of Genomics and Human Genetics, 2022
Association between germline pathogenic variants and breast cancer risk in Japanese women: The HERPACC study.
Kasugai Y et al.
Cancer Science, 2022
The Novel Phosphatase Domain Mutations Q171R and Y65S Switch PTEN from Tumor Suppressor to Oncogene.
Garrido JAMG et al.
Cells, 2021
A scalable Drosophila assay for clinical interpretation of human PTEN variants in suppression of PI3K/AKT induced cellular proliferation.
Ganguly P et al.
Plos Genetics, 2021
First case report of a NUP98-PMX1 rearrangement in de novo acute myeloid leukemia and literature review.
Fu W et al.
Bmc Medical Genomics, 2021
MAPS: machine-assisted phenotype scoring enables rapid functional assessment of genetic variants by high-content microscopy.
Chao JT et al.
Bmc Bioinformatics, 2021
HER2 Amplification in Advanced NSCLC Patients After Progression on EGFR-TKI and Clinical Response to EGFR-TKI Plus Pyrotinib Combination Therapy.
Gan J et al.
Oncotargets and Therapy, 2021
Quality assessment of a clinical next-generation sequencing melanoma panel within the Italian Melanoma Intergroup (IMI).
Vanni I et al.
Diagnostic Pathology, 2020
A Premalignant Cell-Based Model for Functionalization and Classification of PTEN Variants.
Chao JT et al.
Cancer Research, 2020
Analyzing aggregation propensities of clinically relevant PTEN mutants: a new culprit in pathogenesis of cancer and other PTENopathies.
Palumbo E et al.
Journal of Biomolecular Structure & Dynamics, 2020
Multi-model functionalization of disease-associated PTEN missense mutations identifies multiple molecular mechanisms underlying protein dysfunction.
Post KL et al.
Nature Communications, 2020
Mutation analysis of related genes in hamartoma polyp tissue of Peutz-Jeghers syndrome.
Zhang Z et al.
World Journal of Gastroenterology, 2020
Infantile macrocephaly and multiple subcutaneous lipomas diagnosed with PTEN hamartoma tumor syndrome: A case report.
Yotsumoto Y et al.
Molecular and Clinical Oncology, 2020
Olaparib is effective for recurrent urothelial carcinoma with BRCA2 pathogenic germline mutation: first report on olaparib response in recurrent UC.
Yang H et al.
Therapeutic Advances in Medical Oncology, 2020
PTEN in Autism and Neurodevelopmental Disorders.
Rademacher S et al.
Cold Spring Harbor Perspectives in Medicine, 2019
Mutational concordance between primary and metastatic melanoma: a next-generation sequencing approach.
Manca A et al.
Journal of Translational Medicine, 2019
Preliminary exploration of potential molecular therapeutic targets in recurrent and metastatic parathyroid carcinomas.
Cui M et al.
International Journal of Cancer, 2019
Findings of a 1303 Korean whole-exome sequencing study.
Kwak SH et al.
Experimental & Molecular Medicine, 2017
Detection of cancer specific mutations in early-stage non-small cell lung cancer using cell-free DNA by targeted sequencing.
He Y et al.
International Journal of Oncology, 2016
Functionally distinct groups of inherited PTEN mutations in autism and tumour syndromes.
Spinelli L et al.
Journal of Medical Genetics, 2015
Plasma circulating tumor DNA as an alternative to metastatic biopsies for mutational analysis in breast cancer.
Rothé F et al.
Annals of Oncology : Official Journal of the European Society for Medical Oncology, 2014
Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly and PTEN mutations.
Vanderver A et al.
American Journal of Medical Genetics. Part A, 2014
Assessment of computational methods for predicting the effects of missense mutations in human cancers.
Gnad F et al.
Bmc Genomics, 2013
CanDrA: cancer-specific driver missense mutation annotation with optimized features.
Mao Y et al.
Plos One, 2013
Crystal structure of the PTEN tumor suppressor: implications for its phosphoinositide phosphatase activity and membrane association.
Lee JO et al.
Cell, 1999