Elexacaftor/Tezacaftor/Ivacaftor (ETI) and other highly effective modulator therapies have transformed outcomes for people with cystic fibrosis (pwCF), yielding significant pulmonary and extrapulmonary benefits. Although lung transplant (LTx) rates have declined dramatically in the post ETI era, a substantial number of...
John C. Kennedy, A. Taddesse, A. Coppolino et al.· Journal of Cystic Fibrosis· 0 citations
Commercial laboratories often have differing approaches to pharmacogenomic testing, which detects the presence of germline genetic variants associated with drug response. Setting standards for clinical laboratories and defining criteria for clinicians to consider when choosing a testing laboratory can help maximize the...
E. Fieg, Benjamin Kerman, Lucas A. Berenbrok et al.· Clinical pharmacology and th...· 0 citations
A case series of an additional 13 affected individuals with RNF13 variants (2 missense, 11 truncating) supports and broadens previous reports and helps to define a narrow but critical region of the protein that is intolerant to truncating variation, although the gene is not highly constrained.
D. Latner, S. Hiatt, C. Finnila et al.· American Journal of Medical...· 0 citations
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