Associated Papers
Genetic spectrum analysis of high-carrier-frequency monogenic disorders based on whole-exome sequencing in the Chinese general population.
Hao N et al.
Human Genomics, 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
Clinical Vigilance in Rare Disease Management: Atypical Features Lead to Discovery of Concurrent X-linked Adrenoleukodystrophy and Cystic Fibrosis.
Taşar Ünsaçar K et al.
Journal of Child Neurology, 2026
Cystic fibrosis complicated by allergic bronchopulmonary aspergillosis in a Chinese adolescent: a case report and literature review.
Dang Y et al.
Ame Case Reports, 2026
Developing a primer for communicating about penetrance, expressivity, and genotype-phenotype correlation of R117H and the poly-T tract in CFTR.
Raraigh KS et al.
Journal of Genetic Counseling, 2025
Adult genomic medicine: lessons from a multisite study of 2700 patients.
Bakur K et al.
Genome Medicine, 2025
Cystic fibrosis in Vietnam and Southeast Asia: underdiagnosis and genetic spectrum.
Cao-Pham HG et al.
Journal of Community Genetics, 2025
Identification and Characterization of a Rare Exon 22 Duplication in CFTR in Two Families.
Ahting S et al.
International Journal of Molecular Sciences, 2025
Intact spermatogenesis in an azoospermic patient with AZFa (sY84 and sY86) microdeletion and a homozygous TG12-5T variant in CFTR.
Sun Y et al.
Basic and Clinical Andrology, 2025
Pathogenic germline variants in cancer predisposition genes in patients with multiple primary cancers in an Asian population and the role of extended panel genetic testing.
Cheo SW et al.
Esmo Open, 2025
Next-Generation Sequencing Infertility Panel in Turkey: First Results.
Ikbal Atli E et al.
Balkan Journal of Medical Genetics : Bjmg, 2024
Investigation of CFTR Function in Human Nasal Epithelial Cells Informs Personalized Medicine.
Pion A et al.
American Journal of Respiratory Cell and Molecular Biology, 2024
Population Characteristics of the Spectrum and Frequencies of CFTR Gene Mutations in Patients with Cystic Fibrosis from the Republic of Bashkortostan (Russia).
Ayupova G et al.
Genes, 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
Customizing carrier screening in the Chinese population: Insights from a 334-gene panel.
Liu S et al.
Prenatal Diagnosis, 2024
Germline variant analysis from a cohort of patients with severe hypertriglyceridemia in Brazil.
Mendes C et al.
Molecular Genetics and Metabolism Reports, 2024
Membranous aplasia cutis congenita: A rare case report highlighting clinical presentation, genetic insights, and the need for comprehensive evaluation.
She QY et al.
Heliyon, 2024
Genomic Landscape of Susceptibility to Severe COVID-19 in the Slovenian Population.
Kovanda A et al.
International Journal of Molecular Sciences, 2024
Prevalence of common autosomal recessive mutation carriers in women in the Southern Vietnam following the application of expanded carrier screening.
To-Mai XH et al.
Scientific Reports, 2024
AutoGVP: a dockerized workflow integrating ClinVar and InterVar germline sequence variant classification.
Kim J et al.
Bioinformatics (oxford, England), 2024
An overview of CFTR mutation profiles and assisted reproductive technology outcomes in Chinese patients with congenital obstructive azoospermia.
Wang M et al.
Journal of Assisted Reproduction and Genetics, 2024
Compound heterozygous mutations in CFTR causing congenital bilateral absence of the vas deferens in a Chinese pedigree.
Li L et al.
Molecular Genetics & Genomic Medicine, 2024
Whole exome sequencing reveal 83 novel Mendelian disorders carrier P/LP variants in Chinese adult patients.
Zhang L et al.
Journal of Human Genetics, 2023
Next-Generation Sequencing for Screening Analysis of Cystic Fibrosis: Spectrum and Novel Variants in a South-Central Italian Cohort.
De Paolis E et al.
Genes, 2023
Updated recommendations for CFTR carrier screening: A position statement of the American College of Medical Genetics and Genomics (ACMG).
Deignan JL et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 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
DNA sequencing analysis of cystic fibrosis transmembrane conductance regulator gene identifies cystic fibrosis-associated variants in the Severe Asthma Research Program.
Izquierdo ME et al.
Pediatric Pulmonology, 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
The Genetic Analysis of Cystic Fibrosis Patients With Seven Novel Mutations in the CFTR Gene in the Central Anatolian Region of Turkey.
Erdoğan M et al.
Balkan Medical Journal, 2021
Evaluating sequence data quality from the Swift Accel-Amplicon CFTR Panel.
Leung ML et al.
Scientific Data, 2020
Validation and application of a novel integrated genetic screening method to a cohort of 1,112 men with idiopathic azoospermia or severe oligozoospermia.
Oud MS et al.
Human Mutation, 2017
Revisiting the morbid genome of Mendelian disorders.
Abouelhoda M et al.
Genome Biology, 2016
[A complicated case study: Hennekam syndrome].
Deng XL et al.
Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2015
Evaluation of clinical and genetic characteristics of cystic fibrosis patients in the Southeastern Anatolia of Turkey.
Arik E et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 0
A Case of Cystic Fibrosis in a Japanese Man With Congenital Bilateral Absence of the Vas Deferens and Recurrent Pancreatitis Caused by a Homozygous c.1210-11 T > G Variant of the Cystic Fibrosis Transmembrane Conductance Regulator Gene.
Saito T et al.
Reproductive Medicine and Biology, 0