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High-quality read-based phasing of cystic fibrosis cohort informs genetic understanding of disease modification.
Mastromatteo S, Chen A, Gong J, Lin F, Thiruvahindrapuram B, Sung WWL, Whitney J, Wang Z, Patel RV, Keenan K, Halevy A, Panjwani N, Avolio J, Wang C, Côté-Maurais G, Bégin S, Adam D, Brochiero E, Bjornson C, Chilvers M, Price A, Parkins M, van Wylick R, Mateos-Corral D, Hughes D, Smith MJ, Morrison N, Tullis E, Stephenson AL, Wilcox P, Quon BS, Leung WM, Solomon M, Sun L, Ratjen F, Strug LJ. Mastromatteo S, et al. Among authors: solomon m. HGG Adv. 2022 Oct 20;4(1):100156. doi: 10.1016/j.xhgg.2022.100156. eCollection 2023 Jan 12. HGG Adv. 2022. PMID: 36386424 Free PMC article.
Does extensive genotyping and nasal potential difference testing clarify the diagnosis of cystic fibrosis among patients with single-organ manifestations of cystic fibrosis?
Ooi CY, Dupuis A, Ellis L, Jarvi K, Martin S, Ray PN, Steele L, Kortan P, Gonska T, Dorfman R, Solomon M, Zielenski J, Corey M, Tullis E, Durie P. Ooi CY, et al. Among authors: solomon m. Thorax. 2014 Mar;69(3):254-60. doi: 10.1136/thoraxjnl-2013-203832. Epub 2013 Oct 21. Thorax. 2014. PMID: 24149827
1,982 results