Associated Papers
Exome Sequencing Reveals the Genetic Architecture of Non-syndromic Orofacial Clefts and Identifies BOC as a Novel Causal Gene.
He Q et al.
Advanced Science (weinheim, Baden-wurttemberg, Germany), 2025
40464334 (PubMed )
Supplement: ADVS-12-e12073-s004.xlsx › Sheet1
Genomic landscape of paired primary and peritoneal metastatic lesions in gastric cancer highlights evolutionary dynamics and mutational drivers.
Li S et al.
Journal of Advanced Research, 2025
40436141 (PubMed )
Supplement: 1-s2.0-S2090123225003625-mmc2.xlsx › Table_S4
Dual PTCH2 mutation [Ser391*, Leu104Pro]: unveiling a potential new genetic susceptibility factor for glioma development.
Li X et al.
Investigational New Drugs, 2025
Identification of rare variants in PTCH2 associated with non-syndromic orofacial clefts.
Liang X et al.
Gene, 2024
Mutation characteristics of cancer susceptibility genes in Chinese ovarian cancer patients.
Wang J et al.
Frontiers in Oncology, 2024
38817903 (PubMed )
Supplement: Table_3.xlsx › Sheet1
Detection of Glioma-Related Hotspot Mutations Through Sequencing of Cerebrospinal Fluid (CSF)-Derived Circulating Tumor DNA: A Pilot Study on CSF-Based Liquid Biopsy for Primary Spinal Cord Astrocytoma.
Cheng L et al.
Neurospine, 2023
37401089 (PubMed )
Supplement: ns-2346210-105-Supplementary-Table-2.xlsx › supplementary_Table_S2_
Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.
Pejaver V et al.
American Journal of Human Genetics, 2022
36413997 (PubMed )
Supplement: mmc2.xlsx › mmc2
PTCH2 is not a strong candidate gene for gorlin syndrome predisposition.
Smith MJ et al.
Familial Cancer, 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
35774130 (PubMed )
Supplement: DataSheet_2.xlsx › Sheet2
Comprehensive germline and somatic genomic profiles of Chinese patients with biliary tract cancer.
Yu H et al.
Frontiers in Oncology, 2022
36072793 (PubMed )
Supplement: Table_2.xlsx › germline_alterations
Evaluation of FGFR targeting in breast cancer through interrogation of patient-derived models.
Chew NJ et al.
Breast Cancer Research : Bcr, 2021
34344433 (PubMed )
Supplement: 13058_2021_1461_MOESM7_ESM.xlsx › KCC_P_4043_Tumour
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
Patient-derived ovarian cancer organoids capture the genomic profiles of primary tumours applicable for drug sensitivity and resistance testing.
Nanki Y et al.
Scientific Reports, 2020
32724113 (PubMed )
Supplement: 41598_2020_69488_MOESM2_ESM.xlsx › Sheet1
A novel mutation in the OAR domain of PITX3 associated with congenital posterior subcapsular cataract.
Fan Q et al.
Bmc Medical Genetics, 2019
30894134 (PubMed )
Supplement: 12881_2019_782_MOESM1_ESM.xlsx › Sheet2
ARID1B alterations identify aggressive tumors in neuroblastoma.
Lee SH et al.
Oncotarget, 2017
28521285 (PubMed )
Supplement: oncotarget-08-45943-s002.xlsx › SupplTable2
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