Associated Papers
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
40421383 (PubMed )
Supplement: Table1.xlsx › Table_S4
Diversity of CFTR variants across ancestries characterized using 454,727 UK biobank whole exome sequences.
Ideozu JE et al.
Genome Medicine, 2024
38515211 (PubMed )
Supplement: 13073_2024_1316_MOESM1_ESM.xlsx › Table_S1A
The CFTR Gene Germline Heterozygous Pathogenic Variants in Russian Patients with Malignant Neoplasms and Healthy Carriers: 11,800 WGS Results.
Makarova M et al.
International Journal of Molecular Sciences, 2023
Technical Performance of a 430-Gene Preventative Genomics Assay to Identify Multiple Variant Types Associated with Adult-Onset Monogenic Conditions, Susceptibility Loci, and Pharmacogenetic Insights.
Silver A et al.
Journal of Personalized Medicine, 2022
35629091 (PubMed )
Supplement: jpm-12-00667-s001.zip › jpm-1646052-supplementary.xlsx › Table_S1__Samples_
Systematic estimation of cystic fibrosis prevalence in Chinese and genetic spectrum comparison to Caucasians.
Ni Q et al.
Orphanet Journal of Rare Diseases, 2022
35313924 (PubMed )
Supplement: 13023_2022_2279_MOESM3_ESM.xls › TableS2
Predictive value of genomic screening: cross-sectional study of cystic fibrosis in 50,788 electronic health records.
Sugunaraj JP et al.
Npj Genomic Medicine, 2019
Implementation of newborn screening for cystic fibrosis in Norway. Results from the first three years.
Lundman E et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2016
Evaluation and use of a synthetic quality control material, included in the European external quality assessment scheme for cystic fibrosis.
Berwouts S et al.
Human Mutation, 2008
Spectrum of mutations in CFTR in Finland: 18 years follow-up study and identification of two novel mutations.
Kinnunen S et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2005
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