Associated Papers
Case Series of Eight Congenital Tufting Enteropathy Patients and Literature Review.
Fang Y et al.
Clinical Genetics, 2025
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Plos Genetics, 2025
The Genetic Architecture of Congenital Diarrhea and Enteropathy.
Gaibee Z et al.
The New England Journal of Medicine, 2025
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Three patients with new mutations in the EPCAM variant gene for congenital tufting enteropathy and a mutation review in China: a case report.
Wang SN et al.
Translational Pediatrics, 2024
Integrative Analysis of Germline Rare Variants in Clear and Non-clear Cell Renal Cell Carcinoma.
Han SH et al.
European Urology Open Science, 2024
Retrospective diagnosis by parental testing in the next generation sequencing era and utility of reanalysis of exome data.
Saxena D et al.
Prenatal Diagnosis, 2023
Integrative Analysis of Germline Rare Variants in Clear and Non-Clear Cell Renal Cell Carcinoma.
Han S et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
Association between germline pathogenic variants in cancer-predisposing genes and lymphoma risk.
Usui Y et al.
Cancer Science, 2022
Homozygous Missense Epithelial Cell Adhesion Molecule Variant in a Patient with Congenital Tufting Enteropathy and Literature Review.
Güvenoğlu M et al.
Pediatric Gastroenterology, Hepatology & Nutrition, 2022
Performance evaluation of differential splicing analysis methods and splicing analytics platform construction.
Li K et al.
Nucleic Acids Research, 2022
[A Case of Congenital Tufting Enteropathy with EpCAM Gene Complex Heterozygous Mutation (c.491+1G>A; c.352_353ins CACC)].
Yang M et al.
Sichuan Da Xue Xue Bao. Yi Xue Ban = Journal of Sichuan University. Medical Science Edition, 2022
A novel compound-heterozygous EPCAM mutation in congenital tufting enteropathy.
Zhao R et al.
Archives of Medical Science : Ams, 2022
New mutation in EPCAM for congenital tufting enteropathy: A case report.
Zhou YQ et al.
World Journal of Clinical Cases, 2020
The contribution of hereditary cancer-related germline mutations to lung cancer susceptibility.
Liu M et al.
Translational Lung Cancer Research, 2020
Tufting Enteropathy: A Review of Clinical and Histological Presentation, Etiology, Management, and Outcome.
Cai C et al.
Gastroenterology Research and Practice, 2020
EPCAM mutation update: Variants associated with congenital tufting enteropathy and Lynch syndrome.
Pathak SJ et al.
Human Mutation, 2019
Advances in Evaluation of Chronic Diarrhea in Infants.
Thiagarajah JR et al.
Gastroenterology, 2018
Novel Mutations in EPCAM Cause Congenital Tufting Enteropathy.
Tang W et al.
Journal of Clinical Gastroenterology, 2018
Functional consequences of EpCam mutation in mice and men.
Mueller JL et al.
American Journal of Physiology. Gastrointestinal and Liver Physiology, 2014
Absence of cell-surface EpCAM in congenital tufting enteropathy.
Schnell U et al.
Human Molecular Genetics, 2013
Tufting Enteropathy with EpCAM Mutations in Two Siblings.
Ko JS et al.
Gut and Liver, 2010