Associated Papers
Clinical approach for managing patients with unexpected CDH1 mutations: A case report.
Garitaonaindia Y et al.
Molecular Genetics & Genomic Medicine, 2024
Optimising clinical care through CDH1-specific germline variant curation: improvement of clinical assertions and updated curation guidelines.
Luo X et al.
Journal of Medical Genetics, 2023
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 › ST8-CDH1
AutoPVS1: An automatic classification tool for PVS1 interpretation of null variants.
Xiang J et al.
Human Mutation, 2020
CDH1 Mutation Distribution and Type Suggests Genetic Differences between the Etiology of Orofacial Clefting and Gastric Cancer.
Selvanathan A et al.
Genes, 2020
32260281 (PubMed )
Supplement: genes-11-00391-s001.zip › genes-715863-supplementary.xlsx › Final_Variant_List
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_S1_CDH1_A
Comparison of CDH1 Penetrance Estimates in Clinically Ascertained Families vs Families Ascertained for Multiple Gastric Cancers.
Roberts ME et al.
Jama Oncology, 2019
Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline CDH1 sequence variants.
Lee K et al.
Human Mutation, 2018
A novel de novo CDH1 germline variant aids in the classification of carboxy-terminal E-cadherin alterations predicted to escape nonsense-mediated mRNA decay.
Krempely K et al.
Cold Spring Harbor Molecular Case Studies, 2018
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