Results 171 to 180 of about 81,604 (317)
Molecular Genetics &Genomic Medicine, Volume 14, Issue 1, January 2026.Current carrier screening primarily focuses on high detection rates and broad testing ranges. We approach the issue from the perspective of a community physician, evaluating the suitability of carrier screening based on factors such as cost, ease of report interpretation, and compliance issues.
Zhihui Wang +6 more
wiley +1 more source
Identity, functional consequences, and context effects of amino acids inserted during suppression of CFTR nonsense mutations [PDF]
K. Thrasher +9 more
openalex +1 more source
Molecular Genetics &Genomic Medicine, Volume 14, Issue 1, January 2026.This study evaluated pharmacogenomic (PGx) calling from whole‐exome sequencing (WES) in 3562 Taiwanese individuals. Fourteen pharmacogenes were reliably identified, with each person carrying an average of ~2.4 actionable phenotypes. The high actionable frequencies of G6PD deficiency and HLA‐B*58:01 highlight ethnic differences and support WES as a ...
Hsu‐Heng Lin +9 more
wiley +1 more source
Expanding Cystic Fibrosis Registries to the Rest of the World
Pediatric Pulmonology, Volume 61, Issue 1, January 2026.ABSTRACT Challenge Cystic fibrosis (CF) is a global challenge. The epidemiological knowledge is incomplete and focused on patient registries in the United States, Canada, Europe, Australia and New Zealand, Brazil, and South Africa. To complete the global picture of CF, we have to learn from each individual with CF, as well as each cohort and population.
Lutz Naehrlich
wiley +1 more source
506 MULTI-CODE® CFTR Gene Multi-Mutation Analysis on Luminex™ Microspheres
, 2005 openalex +1 more source
Interrater Reliability of a Modified Bronchoscopy Scoring Tool in Children With Cystic Fibrosis
Pediatric Pulmonology, Volume 61, Issue 1, January 2026.ABSTRACT Background Flexible bronchoscopy (FB) is widely used in the management of children with Cystic Fibrosis (CF) to visualize airway abnormalities, assess inflammation and detect infection. While previous scoring systems have been proposed to quantify visual airway findings in general pediatric populations, no standardized tool exists for ...
Alexandra Bosetti +5 more
wiley +1 more source