Associated Papers
Using multiplexed functional data to reduce variant classification inequities in underrepresented populations.
Dawood M et al.
Genome Medicine, 2024
39627863 (PubMed )
Supplement: 13073_2024_1392_MOESM1_ESM.xlsx › Table_S18
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
vaRHC: an R package for semi-automation of variant classification in hereditary cancer genes according to ACMG/AMP and gene-specific ClinGen guidelines.
Munté E et al.
Bioinformatics (oxford, England), 2023
36916756 (PubMed )
Supplement: btad128_supplementary_data.zip › btad128_Supplementary_Data › Supplementary_tables10022023.xlsx › ST11-PTEN
Clinicopathological and Genomic Profiles of Atypical Fibroxanthoma and Pleomorphic Dermal Sarcoma Identify Overlapping Signatures with a High Mutational Burden.
Ak M et al.
Genes, 2021
34202213 (PubMed )
Supplement: genes-12-00974-s001.zip › Supplemental_Table_S2_F1CDx_gene_alteration.xlsx › Tabelle1
Precise Immunodetection of PTEN Protein in Human Neoplasia.
Pulido R et al.
Cold Spring Harbor Perspectives in Medicine, 2019
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_S10_PTEN_A
Precise definition of PTEN C-terminal epitopes and its implications in clinical oncology.
Mingo J et al.
Npj Precision Oncology, 2019
30993208 (PubMed )
Supplement: 41698_2019_83_MOESM1_ESM.pdf
Gene-specific criteria for PTEN variant curation: Recommendations from the ClinGen PTEN Expert Panel.
Mester JL et al.
Human Mutation, 2018
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