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Genetic Modifiers of Cystic Fibrosis Lung Disease Severity: Whole-Genome Analysis of 7,840 Patients.
Zhou YH, Gallins PJ, Pace RG, Dang H, Aksit MA, Blue EE, Buckingham KJ, Collaco JM, Faino AV, Gordon WW, Hetrick KN, Ling H, Liu W, Onchiri FM, Pagel K, Pugh EW, Raraigh KS, Rosenfeld M, Sun Q, Wen J, Li Y, Corvol H, Strug LJ, Bamshad MJ, Blackman SM, Cutting GR, Gibson RL, O'Neal WK, Wright FA, Knowles MR. Zhou YH, et al. Among authors: blue ee. Am J Respir Crit Care Med. 2023 May 15;207(10):1324-1333. doi: 10.1164/rccm.202209-1653OC. Am J Respir Crit Care Med. 2023. PMID: 36921087 Free PMC article.
The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities.
Chong JX, Buckingham KJ, Jhangiani SN, Boehm C, Sobreira N, Smith JD, Harrell TM, McMillin MJ, Wiszniewski W, Gambin T, Coban Akdemir ZH, Doheny K, Scott AF, Avramopoulos D, Chakravarti A, Hoover-Fong J, Mathews D, Witmer PD, Ling H, Hetrick K, Watkins L, Patterson KE, Reinier F, Blue E, Muzny D, Kircher M, Bilguvar K, López-Giráldez F, Sutton VR, Tabor HK, Leal SM, Gunel M, Mane S, Gibbs RA, Boerwinkle E, Hamosh A, Shendure J, Lupski JR, Lifton RP, Valle D, Nickerson DA; Centers for Mendelian Genomics; Bamshad MJ. Chong JX, et al. Am J Hum Genet. 2015 Aug 6;97(2):199-215. doi: 10.1016/j.ajhg.2015.06.009. Epub 2015 Jul 9. Am J Hum Genet. 2015. PMID: 26166479 Free PMC article. Review.
Variation in Cilia Protein Genes and Progression of Lung Disease in Cystic Fibrosis.
Blue E, Louie TL, Chong JX, Hebbring SJ, Barnes KC, Rafaels NM, Knowles MR, Gibson RL, Bamshad MJ, Emond MJ; U.S. National Heart, Lung, and Blood Institute “Grand Opportunity” Exome Sequencing Project (LungGO). Blue E, et al. Ann Am Thorac Soc. 2018 Apr;15(4):440-448. doi: 10.1513/AnnalsATS.201706-451OC. Ann Am Thorac Soc. 2018. PMID: 29323929 Free PMC article.
Rare deleterious variants of NOTCH1, GATA4, SMAD6, and ROBO4 are enriched in BAV with early onset complications but not in BAV with heritable thoracic aortic disease.
Musfee FI, Guo D, Pinard AC, Hostetler EM, Blue EE, Nickerson DA; University of Washington Center for Mendelian Genomics (UW-CMG); Bamshad MJ, Milewicz DM, Prakash SK. Musfee FI, et al. Among authors: blue ee. Mol Genet Genomic Med. 2020 Oct;8(10):e1406. doi: 10.1002/mgg3.1406. Epub 2020 Aug 3. Mol Genet Genomic Med. 2020. PMID: 32748548 Free PMC article.
Leveraging TOPMed imputation server and constructing a cohort-specific imputation reference panel to enhance genotype imputation among cystic fibrosis patients.
Sun Q, Liu W, Rosen JD, Huang L, Pace RG, Dang H, Gallins PJ, Blue EE, Ling H, Corvol H, Strug LJ, Bamshad MJ, Gibson RL, Pugh EW, Blackman SM, Cutting GR, O'Neal WK, Zhou YH, Wright FA, Knowles MR, Wen J, Li Y; Cystic Fibrosis Genome Project. Sun Q, et al. Among authors: blue ee. HGG Adv. 2022 Jan 11;3(2):100090. doi: 10.1016/j.xhgg.2022.100090. eCollection 2022 Apr 14. HGG Adv. 2022. PMID: 35128485 Free PMC article.
64 results