Associated Papers
Clinical characteristics of pulmonary non-tuberculous mycobacterial disease with CFTR variants in the Japanese population.
Nagao G et al.
Bmj Open Respiratory Research, 2026
Novel Insights into the Enigmatic Genetics of Male Breast Cancer in China.
Lang GT et al.
Pathophysiology : the Official Journal of the International Society for Pathophysiology, 2026
Cystic fibrosis-causing variants in Chinese patients with congenital absence of the vas deferens: a cohort and meta-analysis.
Lu Y et al.
Asian Journal of Andrology, 2025
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
Pathogenic germline variants in Chinese pancreatic adenocarcinoma patients.
Yin X et al.
Nature Communications, 2025
The pharmacogenomic landscape in the Chinese: An analytics of pharmacogenetic variants in 206,640 individuals.
Wang LY et al.
Innovation (cambridge (mass.)), 2025
Uncovering potential causal genes for undiagnosed congenital anomalies using an in-house pipeline for trio-based whole-genome sequencing.
Kim JM et al.
Human Genomics, 2025
Phenotypic impact of CFTR mutations on male reproductive tract agenesis in a Chinese cohort with congenital absence of the vas deferens.
Li J et al.
Journal of Assisted Reproduction and Genetics, 2025
Genetic diagnosis and outcomes of intracytoplasmic sperm injection in South Chinese patients with congenital bilateral aplasia of the vas deferens.
Hu H et al.
Basic and Clinical Andrology, 2024
Benchmarking AlphaMissense Pathogenicity Predictions Against Cystic Fibrosis Variants.
McDonald EF et al.
Biorxiv : the Preprint Server for Biology, 2024
Benchmarking AlphaMissense pathogenicity predictions against cystic fibrosis variants.
McDonald EF et al.
Plos One, 2024
Mutation characteristics of cancer susceptibility genes in Chinese ovarian cancer patients.
Wang J et al.
Frontiers in Oncology, 2024
Correlation between CFTR variants and outcomes of ART in patients with CAVD in Central China.
Qu X et al.
Scientific Reports, 2023
Heterogeneous spectrum of CFTR gene mutations in Chinese patients with CAVD and the dilemma of genetic blocking strategy.
Feng J et al.
Reproduction (cambridge, England), 2022
Genetic spectrum of Chinese children with cystic fibrosis: comprehensive data analysis from the main referral centre in China.
Shen Y et al.
Journal of Medical Genetics, 2022
Mutations in CFTR genes are associated with oligoasthenospermia in infertile men undergoing IVF.
Li Q et al.
Andrologia, 2022
Systematic estimation of cystic fibrosis prevalence in Chinese and genetic spectrum comparison to Caucasians.
Ni Q et al.
Orphanet Journal of Rare Diseases, 2022
An additional whole-exome sequencing study in 102 panel-undiagnosed patients: A retrospective study in a Chinese craniosynostosis cohort.
Chen J et al.
Frontiers in Genetics, 2022
Clear Cell Papillary Renal Cell Carcinoma Shares Distinct Molecular Characteristics and may be Significantly Associated With Higher Risk of Developing Second Primary Malignancy.
Tian X et al.
Pathology Oncology Research : Por, 2021
The Application of Whole-Exome Sequencing in Patients With FUO.
Guo W et al.
Frontiers in Cellular and Infection Microbiology, 2021
Expanding the phenotypic and genetic spectrum of Chinese patients with congenital absence of vas deferens bearing CFTR and ADGRG2 alleles.
Yuan P et al.
Andrology, 2019
Structural Biology Helps Interpret Variants of Uncertain Significance in Genes Causing Endocrine and Metabolic Disorders.
Ittisoponpisan S et al.
Journal of the Endocrine Society, 2018
Next-generation sequencing for identifying genetic mutations in adults with bronchiectasis.
Guan WJ et al.
Journal of Thoracic Disease, 2018
Mutations in SELENBP1, encoding a novel human methanethiol oxidase, cause extraoral halitosis.
Pol A et al.
Nature Genetics, 2018
Targeted Gene Next-Generation Sequencing in Chinese Children with Chronic Pancreatitis and Acute Recurrent Pancreatitis.
Xiao Y et al.
The Journal of Pediatrics, 2017
Association of CFTR gene variants with nontuberculous mycobacterial lung disease in a Korean population with a low prevalence of cystic fibrosis.
Jang MA et al.
Journal of Human Genetics, 2013
Identification of risk genes in Chinese nonobstructive azoospermia patients based on whole-exome sequencing.
Liu YJ et al.
Asian Journal of Andrology, 0