Associated Papers
Integrating genomic and transcriptome features for characterization and prognostic prediction of angioimmunoblastic T-cell lymphoma.
Wei C et al.
Annals of Hematology, 2025
Functional Enrichment Analysis of Rare Mutations in Patients with Brain Arteriovenous Malformations.
Zholdybayeva E et al.
Biomedicines, 2025
MSH2, MSH6, MLH1, and PMS2 immunohistochemistry as highly sensitive screening method for DNA mismatch repair deficiency syndromes in pediatric high-grade glioma.
Friker LL et al.
Acta Neuropathologica, 2025
Genomic landscape and comparative analysis of tissue and liquid-based NGS in Taiwanese anaplastic thyroid carcinoma.
Yeh CN et al.
Npj Precision Oncology, 2025
Sequencing of cerebrospinal fluid cell-free DNA facilitated early differential diagnosis of intramedullary spinal cord tumors.
Chai R et al.
Npj Precision Oncology, 2024
A novel smoothed (SMO) point mutation in congenital tibial hemimelia: a case report.
Yang X et al.
Bmc Pediatrics, 2023
Development and validation of a mutation-based model to predict immunotherapeutic efficacy in NSCLC.
He P et al.
Frontiers in Oncology, 2023
Mutation Analysis of Second Primary Tumors in Oral Cancer in Taiwanese Patients through Next-Generation Sequencing.
Liu TY et al.
Diagnostics (basel, Switzerland), 2022
Clinicopathologic Characteristics of Grade 2/3 Meningiomas: A Perspective on the Role of Next-Generation Sequencing.
Kim J et al.
Frontiers in Oncology, 2022
Case Report: A Novel Missense Variant in the SIPA1L3 Gene Associated With Cataracts in a Chinese Family.
Yang D et al.
Frontiers in Genetics, 2021
Clinical and mutational profiles of adult medulloblastoma groups.
Wong GC et al.
Acta Neuropathologica Communications, 2020
Identification of novel candidate pathogenic genes in pituitary stalk interruption syndrome by whole-exome sequencing.
Fang X et al.
Journal of Cellular and Molecular Medicine, 2020
Identification of germline and somatic mutations in pancreatic adenosquamous carcinoma using whole exome sequencing.
Ma H et al.
Cancer Biomarkers : Section a of Disease Markers, 2020
Genomic Analysis of Korean Patient With Microcephaly.
Lee J et al.
Frontiers in Genetics, 2020
Discovery of actionable genetic alterations with targeted panel sequencing in children with relapsed or refractory solid tumors.
Lee JW et al.
Plos One, 2019
ARID1B alterations identify aggressive tumors in neuroblastoma.
Lee SH et al.
Oncotarget, 2017
PTCH1 and SMO gene alterations in keratocystic odontogenic tumors.
Sun LS et al.
Journal of Dental Research, 2008
Analysis of PTCH/SMO/SHH pathway genes in medulloblastoma.
Zurawel RH et al.
Genes, Chromosomes & Cancer, 2000