Publications:

Evaluation of both exonic and intronic variants for effects on RNA splicing allows for accurate assessment of the effectiveness of precision therapies.

Plos Genetics

Joynt, Anya T AT; Evans, Taylor A TA; Pellicore, Matthew J MJ; Davis-Marcisak, Emily F EF; Aksit, Melis A MA; Eastman, Alice C AC; Patel, Shivani U SU; Paul, Kathleen C KC; Osorio, Derek L DL; Bowling, Alyssa D AD; Cotton, Calvin U CU; Raraigh, Karen S KS; West, Natalie E NE; Merlo, Christian A CA; Cutting, Garry R GR; Sharma, Neeraj N

Publication Date: 2020-10

Variant appearance in text: CFTR: 3717G>C; R1239S

PubMed Link: 33085659

Variant Present in the following documents:

• Main text
• pgen.1009100.pdf

View BVdb publication page

Predictive value of genomic screening: cross-sectional study of cystic fibrosis in 50,788 electronic health records.

Npj Genomic Medicine

Sugunaraj, J P JP; Brosius, H M HM; Murray, M F MF; Manickam, K K; Stamm, J A JA; Carey, D J DJ; Mirshahi, U L UL

Publication Date: 2019

Variant appearance in text: CFTR: 3717G>C; R1239S

PubMed Link: 31508243

Variant Present in the following documents:

• Main text
• 41525_2019_Article_95.pdf

View BVdb publication page