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
Unexpected genotypes associated with severe paediatric conditions identified in a healthy population cohort.
Bylstra Y et al.
European Journal of Human Genetics : Ejhg, 2026
Cystic fibrosis risk variants confer protection against inflammatory bowel disease.
Yu M et al.
Cell Genomics, 2025
Chronic pancreatitis patient-derived organoids reveal new paths to precision therapeutics.
Osorio-Vasquez V et al.
Biorxiv : the Preprint Server for Biology, 2025
Comparison of clinical features and pancreatic cancer risk between genetic mutations associated versus alcohol associated chronic pancreatitis.
Lee Y et al.
Pancreatology : Official Journal of the International Association of Pancreatology (iap) ... [et Al.], 2025
Fructose as a key biomarker for prognostication in idiopathic obstructive azoospermia associated with CFTR and ADGRG2 gene variants.
Liang Z et al.
Andrology, 2025
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
Diagnostic yield of expanded carrier screening of a multi-ethnic population in yunnan, China.
Wang H et al.
Scientific Reports, 2025
Genetic syndromes leading to male infertility: a systematic review.
Cheng LG et al.
Fertility and Sterility, 2025
Pathogenic germline variants in Chinese pancreatic adenocarcinoma patients.
Yin X et al.
Nature Communications, 2025
Characterization of 223 infants with CFTR-related metabolic syndrome/Cystic fibrosis screen positive, inconclusive diagnosis (CRMS/CFSPID) identified during the first three years of newborn screening via IRT-DNA-SEQ in New York State.
Sadeghi H et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2025
The pharmacogenomic landscape in the Chinese: An analytics of pharmacogenetic variants in 206,640 individuals.
Wang LY et al.
Innovation (cambridge (mass.)), 2025
Diagnostic Transitions of Cystic Fibrosis and CRMS Compared After 12 Years of Newborn Screening in California.
Sciortino S et al.
The Journal of Pediatrics, 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 variations and recurrence in stage III Korean colorectal cancer: Insights from tumor-only mutation analysis.
Jeon H et al.
Plos One, 2025
Regional patterns of genetic variants in expanded carrier screening: a next-generation sequencing pilot study in Fujian Province, China.
Guo D et al.
Frontiers in Genetics, 2025
Cystic fibrosis risk variants confer protection against inflammatory bowel disease.
Yu M et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Exome sequencing for assessing the risk of 453 monogenic disorders in offspring: A study of 832 Chinese couples.
Ding X et al.
Clinical and Translational Medicine, 2024
[Detection of pathogenic gene mutations in thirteen cases of congenital bilateral absence of vas deferens infertility patients].
Tang Y et al.
Beijing Da Xue Xue Bao. Yi Xue Ban = Journal of Peking University. Health Sciences, 2024
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
Compound heterozygous CFTR variants (Q1352H and 5T; TG13) in a Chinese patient with cystic fibrosis.
Guo R et al.
Diagnostic Pathology, 2024
Genetic counseling access and service delivery in New York State is variable for parents of infants with complex CFTR genotypes conferring uncertain phenotypes.
Kay DM et al.
Pediatric Pulmonology, 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
Whole exome sequencing identifies genetic markers of enterovirus susceptibility in East Asians.
Sung CC et al.
Frontiers in Microbiology, 2024
Genetic Risk Factors for Nontuberculous Mycobacterial Pulmonary Disease (Systematic Review).
Sviridov PS et al.
Sovremennye Tekhnologii V Meditsine, 2024
A comprehensive review of cystic fibrosis in Africa and Asia.
Abubakar Bobbo K et al.
Saudi Journal of Biological Sciences, 2023
Outstanding Characteristics of Birt-Hogg-Dube Syndrome in Korea.
Park HJ et al.
Diagnostics (basel, Switzerland), 2023
Cystic Fibrosis Screen Positive, Inconclusive Diagnosis Genotypes in People with Cystic Fibrosis from the U.S. Patient Registry.
Salinas DB et al.
Annals of the American Thoracic Society, 2023
The Association between CFTR Gene Mutation Heterozygosity and Asthma Development: A Systematic Review.
Koumpagioti D et al.
Journal of Clinical Medicine, 2023
Correlation between CFTR variants and outcomes of ART in patients with CAVD in Central China.
Qu X et al.
Scientific Reports, 2023
Analysis of clinically relevant variants from ancestrally diverse Asian genomes.
Chan SH et al.
Nature Communications, 2022
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
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
Genetic analysis and intracytoplasmic sperm injection outcomes of Chinese patients with congenital bilateral absence of vas deferens.
Cheng H et al.
Journal of Assisted Reproduction and Genetics, 2022
A patient with 47, XYY mosaic karyotype and congenital absence of bilateral vas deferens: a case report and literature review.
Zou C et al.
Bmc Urology, 2022
Genetic mutation analysis of 22 patients with congenital absence of vas deferens: a single-center study†.
Tan MQ et al.
Biology of Reproduction, 2022
Non-polyalanine repeat mutation in PHOX2B is detected in autopsy cases of sudden unexpected infant death.
Ueda A et al.
Plos One, 2022
Genome medicine in male infertility: From karyotyping to single-cell analysis.
Shiraishi K
The Journal of Obstetrics and Gynaecology Research, 2021
A data set of variants derived from 1455 clinical and research exomes is efficient in variant prioritization for early-onset monogenic disorders in Indians.
Kausthubham N et al.
Human Mutation, 2021
Etiologic distribution and clinical characteristics of pediatric diabetes in 276 children and adolescents with diabetes at a single academic center.
Kim JH et al.
Bmc Pediatrics, 2021