Associated Papers
Germline Variants in the Immune Response-Related Genes: Possible Modifying Effect on Age-Dependent BRCA1 Penetrance in Breast Cancer Patient.
Kuligina ES et al.
Cancers, 2025
Next generation sequencing misguided the clinical interpretation of the PRSS1 variant in pediatric pancreatitis: a case report.
Liu Y et al.
Frontiers in Pediatrics, 2025
Tumor DNA from tumor in situ fluid was used to track evolution of glioma under first-line treatment.
Yu J et al.
Frontiers in Oncology, 2025
Case Report: Recognition and management of SMARCA4-deficient renal cell carcinoma.
Wang W et al.
Frontiers in Oncology, 2025
Diagnostic yield of repeat genetic testing in idiopathic chronic pancreatitis.
Dermine S et al.
Clinics and Research in Hepatology and Gastroenterology, 2024
In utero tumor development and identification of CTNNB1 mutation in a newborn case of ossifying renal tumor of infancy.
Kasai S et al.
Pediatric Blood & Cancer, 2024
Clinical and Genetic Description of Hereditary Chronic Pancreatitis in Pakistani Children.
Cheema HA et al.
The Turkish Journal of Gastroenterology : the Official Journal of Turkish Society of Gastroenterology, 2023
Genetic analysis and prenatal diagnosis of short-rib thoracic dysplasia 3 with or without polydactyly caused by compound heterozygous variants of DYNC2H1 gene in four Chinese families.
Fang Y et al.
Frontiers in Genetics, 2023
Identification of potential pathogenic genes for severe aplastic anemia by whole-exome sequencing.
Zhang Y et al.
Journal of Clinical Laboratory Analysis, 2022
A systematic genome-wide mapping of oncogenic mutation selection during CRISPR-Cas9 genome editing.
Sinha S et al.
Nature Communications, 2021
Comprehensive Genomic and Transcriptomic Analysis of Three Synchronous Primary Tumours and a Recurrence from a Head and Neck Cancer Patient.
Bresadola L et al.
International Journal of Molecular Sciences, 2021
Investigation of PALB2 Mutation and Correlation With Immunotherapy Biomarker in Chinese Non-Small Cell Lung Cancer Patients.
Zhang J et al.
Frontiers in Oncology, 2021
Germline Mutation Enrichment in Pathways Controlling Endothelial Cell Homeostasis in Patients with Brain Arteriovenous Malformation: Implication for Molecular Diagnosis.
Scimone C et al.
International Journal of Molecular Sciences, 2020
Germline deletion of ETV6 in familial acute lymphoblastic leukemia.
Rampersaud E et al.
Blood Advances, 2019
Clinically Integrated Sequencing Alters Therapy in Children and Young Adults With High-Risk Glial Brain Tumors.
Koschmann C et al.
Jco Precision Oncology, 2018
Sacral agenesis: a pilot whole exome sequencing and copy number study.
Porsch RM et al.
Bmc Medical Genetics, 2016
Association Analysis of PRSS1-PRSS2 and CLDN2-MORC4 Variants in Nonalcoholic Chronic Pancreatitis Using Tropical Calcific Pancreatitis as Model.
Paliwal S et al.
Pancreas, 2016
A common founding clone with TP53 and PTEN mutations gives rise to a concurrent germ cell tumor and acute megakaryoblastic leukemia.
Lu C et al.
Cold Spring Harbor Molecular Case Studies, 2016
Multiple region whole-exome sequencing reveals dramatically evolving intratumor genomic heterogeneity in esophageal squamous cell carcinoma.
Cao W et al.
Oncogenesis, 2015
XomAnnotate: Analysis of Heterogeneous and Complex Exome- A Step towards Translational Medicine.
Talukder AK et al.
Plos One, 2015
The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.
Tang X et al.
Nucleic Acids Research, 2014
Human cationic trypsinogen (PRSS1) variants and chronic pancreatitis.
Németh BC et al.
American Journal of Physiology. Gastrointestinal and Liver Physiology, 2014
Functional effects of 13 rare PRSS1 variants presumed to cause chronic pancreatitis.
Schnúr A et al.
Gut, 2014
Uncertainties in the classification of human cationic trypsinogen (PRSS1) variants as hereditary pancreatitis-associated mutations.
Szmola R et al.
Journal of Medical Genetics, 2010
The natural history of hereditary pancreatitis: a national series.
Rebours V et al.
Gut, 2009
Risk of pancreatic adenocarcinoma in patients with hereditary pancreatitis: a national exhaustive series.
Rebours V et al.
The American Journal of Gastroenterology, 2008
Can unknown predisposition in familial breast cancer be family-specific?
Lynch H et al.
The Breast Journal, 0