Associated Papers
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
Gorlin-Like Phenotype in a Young Girl With a De Novo PTCH2 Variant Mutation of Uncertain Significance.
Garcia-Garcia M et al.
The American Journal of Dermatopathology, 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_
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
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
The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.
Cao Y et al.
Cell Research, 2020
32355288 (PubMed )
Supplement: 41422_2020_322_MOESM14_ESM.xlsx › S7
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
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 2019
31802016 (PubMed )
Supplement: 41586_2019_1793_MOESM3_ESM.xlsx › S4b_-_Disease_Var
A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.
Zheng J et al.
Molecular Genetics & Genomic Medicine, 2019
31165590 (PubMed )
Supplement: MGG3-7-e00748-s004.xlsx › Variants_information
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
Germline susceptibility variants impact clinical outcome and therapeutic strategies for stage III colorectal cancer.
Lin PC et al.
Scientific Reports, 2019
30850667 (PubMed )
Supplement: 41598_2019_40571_MOESM3_ESM.xlsx › Supp_Table_2
A healthy individual with a homozygous PTCH2 frameshift variant: Are variants of PTCH2 associated with nevoid basal cell carcinoma syndrome?
Altaraihi M et al.
Human Genome Variation, 2019
Frameshift mutation in the PTCH2 gene can cause nevoid basal cell carcinoma syndrome.
Fujii K et al.
Familial Cancer, 2013
Select a paper to view details