Associated Papers
Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric central nervous system tumors.
Corbett RJ et al.
Nature Communications, 2025
Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric CNS tumors.
Corbett RJ et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Case Series of Eight Congenital Tufting Enteropathy Patients and Literature Review.
Fang Y et al.
Clinical Genetics, 2025
Assessing the efficacy of target adaptive sampling long-read sequencing through hereditary cancer patient genomes.
Nakamura W et al.
Npj Genomic Medicine, 2024
Genome-wide detection of human intronic AG-gain variants located between splicing branchpoints and canonical splice acceptor sites.
Zhang P et al.
Proceedings of the National Academy of Sciences of the United States of America, 2023
Whole exome sequencing reveal 83 novel Mendelian disorders carrier P/LP variants in Chinese adult patients.
Zhang L et al.
Journal of Human Genetics, 2023
Tufting enteropathy: a rare anatomical cause of small bowel diarrhoea in infants with mild or no villous abnormality.
Das P et al.
Gastroenterology and Hepatology From Bed to Bench, 2023
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
[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
Importance of multigene panel test in patients with consanguineous marriage and family history of breast cancer.
Ozmen V et al.
Oncology Letters, 2022
DrABC: deep learning accurately predicts germline pathogenic mutation status in breast cancer patients based on phenotype data.
Liu J et al.
Genome Medicine, 2022
A Germline Mutation in ATR Is Associated With Lung Adenocarcinoma in Asian Patients.
Bao G et al.
Frontiers in Oncology, 2022
A novel compound-heterozygous EPCAM mutation in congenital tufting enteropathy.
Zhao R et al.
Archives of Medical Science : Ams, 2022
Three Novel EPCAM Variants Causing Tufting Enteropathy in Three Families.
Ayyıldız Civan H et al.
Children (basel, Switzerland), 2021
Tumor Signature Analysis Implicates Hereditary Cancer Genes in Endometrial Cancer Development.
Kondrashova O et al.
Cancers, 2021
NGS Gene Panel Analysis Revealed Novel Mutations in Patients with Rare Congenital Diarrheal Disorders.
Esposito MV et al.
Diagnostics (basel, Switzerland), 2021
New mutation in EPCAM for congenital tufting enteropathy: A case report.
Zhou YQ et al.
World Journal of Clinical Cases, 2020
The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.
Cao Y et al.
Cell 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
Prevalence of Germline Mutations in Cancer Susceptibility Genes in Patients With Advanced Renal Cell Carcinoma.
Carlo MI et al.
Jama Oncology, 2018
Novel Mutations in EPCAM Cause Congenital Tufting Enteropathy.
Tang W et al.
Journal of Clinical Gastroenterology, 2018
Genomic analysis of an infant with intractable diarrhea and dilated cardiomyopathy.
Bodian DL et al.
Cold Spring Harbor Molecular Case Studies, 2017
Genetic analysis of Italian patients with congenital tufting enteropathy.
d'Apolito M et al.
World Journal of Pediatrics : Wjp, 2016
Genetic characterization of congenital tufting enteropathy: epcam associated phenotype and involvement of SPINT2 in the syndromic form.
Salomon J et al.
Human Genetics, 2014
Absence of cell-surface EpCAM in congenital tufting enteropathy.
Schnell U et al.
Human Molecular Genetics, 2013