Associated Papers
Concordance of Genomic Alterations in Ovarian Cancer Tissues and Circulating-Tumor DNA: A Pilot Study.
Kang B et al.
International Journal of Molecular Sciences, 2026
41683736 (PubMed )
Supplement: ijms-27-01305-s001.zip › ijms-4056495-supplementary.pdf
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
Comprehensive characterization of PTEN mutational profile in a series of 34,129 colorectal cancers.
Serebriiskii IG et al.
Nature Communications, 2022
35338148 (PubMed )
Supplement: 41467_2022_29227_MOESM6_ESM.xlsx › Supplemenraty_Data_3
Distinguishing between PTEN clinical phenotypes through mutation analysis.
Portelli S et al.
Computational and Structural Biotechnology Journal, 2021
34141133 (PubMed )
Supplement: mmc1.docx
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
31232187 (PubMed )
Supplement: supplement_1.zip › Supplement_S5_increase_aggreg_analysis.xlsx › Hydrophob._miss_trunc_ins_dels
Comparative analysis of functional assay evidence use by ClinGen Variant Curation Expert Panels.
Kanavy DM et al.
Genome Medicine, 2019
31783775 (PubMed )
Supplement: 13073_2019_683_MOESM2_ESM.xlsx › Table_S6_MYH7_A
Identification of genes associated with cortical malformation using a transposon-mediated somatic mutagenesis screen in mice.
Lu IL et al.
Nature Communications, 2018
29950674 (PubMed )
Supplement: 41467_2018_4880_MOESM6_ESM.xlsx › MTOR
CHK1-targeted therapy to deplete DNA replication-stressed, p53-deficient, hyperdiploid colorectal cancer stem cells.
Manic G et al.
Gut, 2018
28389531 (PubMed )
Supplement: gutjnl-2016-312623supp002.pdf
The relationship between microsatellite instability and PTEN gene mutations in endometrial cancer.
Bilbao C et al.
International Journal of Cancer, 2006
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