ArticleMolecular genetics and metabolism2012
CFTR mutation analysis and haplotype associations in CF patients.
Article in Molecular genetics and metabolism, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
17 citing papers in PubMed, 39 citations in OpenAlex.
- CFTR haplotype phasing using long-read genome sequencing from ultralow input DNA.Genetics in medicine open · 2025Article
- Screening by single-molecule molecular inversion probes targeted sequencing panel of candidate genes of infertility in azoospermic infertile Jordanian males.Human fertility (Cambridge, England) · 2022Article
- Cystic Fibrosis Newborn Screening in Austria Using PAP and the Numeric Product of PAP and IRT Concentrations as Second-Tier Parameters.Diagnostics (Basel, Switzerland) · 2021Article
- Genomics and Transcriptomics: The Powerful Technologies in Precision Medicine.International journal of general medicine · 2020Review
- Synonymous SNPs of viral genes facilitate virus to escape host antiviral RNAi immunity.RNA biology · 2019Article
- Single-nucleotide polymorphisms in a cohort of significantly obese women without cardiometabolic diseases.International journal of obesity (2005) · 2019Article
- Estimating the age of p.(Phe508del) with family studies of geographically distinct European populations and the early spread of cystic fibrosis.European journal of human genetics : EJHG · 2018Article
- Single Nucleotide Polymorphism in SMAD7 and CHI3L1 and Colorectal Cancer Risk.Mediators of inflammation · 2018Review
- Subsets of Inflammatory Cytokine Gene Polymorphisms are Associated with Risk of Carcinogenic Liver FlukeThe Korean journal of parasitology · 2017Article
- Lung function and disease severity in cystic fibrosis patients heterozygous forERJ open research · 2017Article
- Improving newborn screening for cystic fibrosis using next-generation sequencing technology: a technical feasibility study.Genetics in medicine : official journal of the American College of Medical Genetics · 2016Article
- Genome-wide association analysis identifies genetic variations in subjects with myalgic encephalomyelitis/chronic fatigue syndrome.Translational psychiatry · 2016Article
- Deep resequencing ofHuman genome variation · 2016Article
- Previously Unidentified Single Nucleotide Polymorphisms in HIV/AIDS Cases Associate with Clinical Parameters and Disease Progression.BioMed research international · 2016Article
- Innovations in health and demographic surveillance systems to establish the causal impacts of HIV policies.Current opinion in HIV and AIDS · 2015Review
- N1303K (c.3909C>G) mutation and splicing: implication of its c.[744-33GATT(6); 869+11C>T] complex allele in CFTR exon 7 aberrant splicing.BioMed research international · 2015Article
- Newborn Screening Quality Assurance Program for CFTR Mutation Detection and Gene Sequencing to Identify Cystic Fibrosis.Journal of inborn errors of metabolism and screeningArticle
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
9 authors at 3 institutions in 1 country.
Funding
Abstract
Most newborn screening (NBS) laboratories use second-tier molecular tests for cystic fibrosis (CF) using dried blood spots (DBS). The Centers for Disease Control and Prevention's NBS Quality Assurance Program offers proficiency testing (PT) in DBS for CF transmembrane conductance regulator (CFTR) gene mutation detection. Extensive molecular characterization on 76 CF patients, family members or screen positive newborns was performed for quality assurance. The coding, regulatory regions and portions of all introns were sequenced and large insertions/deletions were characterized as well as two intronic di-nucleotide microsatellites. For CF patient samples, at least two mutations were identified/verified and four specimens contained three likely CF-associated mutations. Thirty-four sequence variations in 152 chromosomes were identified, five of which were not previously reported. Twenty-seven of these variants were used to predict haplotypes from the major haplotype block defined by HapMap data that spans the promoter through intron 19. Chromosomes containing the F508del (p.Phe508del), G542X (p.Gly542X) and N1303K (p.Asn1303Lys) mutations shared a common haplotype subgroup, consistent with a common ancient European founder. Understanding the haplotype background of CF-associated mutations in the U.S. population provides a framework for future phenotype/genotype studies and will assist in determining a likely cis/trans phase of the mutations without need for parent studies.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.