Associated Papers
Discovering Hereditary Risk Through Surveillance: A Prospective Genetic Analysis of Individuals With Familial Pancreatic Cancer.
Paiella S et al.
United European Gastroenterology Journal, 2026
41691430 (PubMed )
Supplement: UEG2-14-e70187-s001.xlsx › Sheet1
Elucidating PTEN conformational dynamics and phosphatase regulation via integrative modeling and mutation prediction.
Dawson JE et al.
Structure (london, England : 1993), 2025
Clinical genome sequencing in patients with hereditary breast and ovarian cancer: Concept, implementation and benefits.
Witt D et al.
Breast (edinburgh, Scotland), 2025
40403485 (PubMed )
Supplement: mmc2.xlsx › Full_information
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
Classification of PTEN germline non-truncating variants: a new approach to interpretation.
Margot H et al.
Journal of Medical Genetics, 2024
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
Prospective Statewide Study of Universal Screening for Hereditary Colorectal Cancer: The Ohio Colorectal Cancer Prevention Initiative.
Pearlman R et al.
Jco Precision Oncology, 2021
Whole-exome Sequencing for the Identification of Rare Variants in Primary Immunodeficiency Genes in Children With Sepsis: A Prospective, Population-based Cohort Study.
Borghesi A et al.
Clinical Infectious Diseases : an Official Publication of the Infectious Diseases Society of America, 2020
32185379 (PubMed )
Supplement: ciaa290_suppl_supplementary_material.docx
Outcome of Targeted Therapy Recommendations for Metastatic and Recurrent Head and Neck Cancers.
Taghizadeh H et al.
Cancers, 2020
High throughput sequencing reveals high specificity of TNFAIP3 mutations in ocular adnexal marginal zone B-cell lymphomas.
Vela V et al.
Hematological Oncology, 2020
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