Associated Papers
Elexacaftor-tezacaftor-ivacaftor in people with cystic fibrosis harbouring two CFTR Class I variants: real-world data from the French compassionate programme.
Burgel PR et al.
Eclinicalmedicine, 2025
40932846 (PubMed )
Supplement: mmc2.xlsx › TRUE
Identification and Characterization of a Rare Exon 22 Duplication in CFTR in Two Families.
Ahting S et al.
International Journal of Molecular Sciences, 2025
40429633 (PubMed )
Supplement: ijms-26-04487-s001.zip › CFTR2_25September2024.xlsx › CFTR2_variants_by_legacy_name
Gathering real-world compassionate data to expand eligibility for elexacaftor/tezacaftor/ivacaftor in people with cystic fibrosis with N1303K or other rare CFTR variants: a viewpoint.
Burgel PR et al.
The European Respiratory Journal, 2024
Clinical and functional efficacy of elexacaftor/tezacaftor/ivacaftor in people with cystic fibrosis carrying the N1303K mutation.
Sadras I et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2023
Off the street phasing (OTSP): no hassle haplotype phasing for molecular PGD applications.
Zeevi DA et al.
Journal of Assisted Reproduction and Genetics, 2019
Noninvasive paternal exclusion testing for cystic fibrosis in the first five to eight weeks of gestation.
Zeevi DA et al.
Scientific Reports, 2018
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