Associated Papers
Detection of brain somatic mutations from stereo-EEG electrodes in focal epilepsy: Current advances and future perspectives.
Checri R et al.
Revue Neurologique, 2025
Analysis of DNA from brain tissue on stereo-EEG electrodes reveals mosaic epilepsy-related variants.
D'Gama AM et al.
Brain Communications, 2025
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
39085601 (PubMed )
Supplement: 439_2024_2691_MOESM2_ESM.xlsx › PTEN
Analysis of DNA from brain tissue on stereo-EEG electrodes reveals mosaic epilepsy-related variants.
D'Gama AM et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Source, co-occurrence, and prognostic value of PTEN mutations or loss in colorectal cancer.
Serebriiskii IG et al.
Npj Genomic Medicine, 2023
38001126 (PubMed )
Supplement: 41525_2023_384_MOESM1_ESM.xlsx › Table_S6
Mosaicism in Tumor Suppressor Gene Syndromes: Prevalence, Diagnostic Strategies, and Transmission Risk.
Chen JL et al.
Annual Review of Genomics and Human Genetics, 2022
36044908 (PubMed )
Supplement: gg23-giannikou_suptable1.xlsx › PTEN
Sequencing and curation strategies for identifying candidate glioblastoma treatments.
Frank MO et al.
Bmc Medical Genomics, 2019
Tumor suppressor PTEN in breast cancer: heterozygosity, mutations and protein expression.
Kechagioglou P et al.
Anticancer Research, 2014
A unique spectrum of somatic PIK3CA (p110alpha) mutations within primary endometrial carcinomas.
Rudd ML et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2011
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