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Page 1
Accounting for population structure in genetic studies of cystic fibrosis.
Kingston H, Stilp AM, Gordon W, Broome J, Gogarten SM, Ling H, Barnard J, Dugan-Perez S, Ellinor PT, Gabriel S, Germer S, Gibbs RA, Gupta N, Rice K, Smith AV, Zody MC; Cystic Fibrosis Genome Project; NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium; Blackman SM, Cutting G, Knowles MR, Zhou YH, Rosenfeld M, Gibson RL, Bamshad M, Fohner A, Blue EE. Kingston H, et al. Among authors: blue ee. HGG Adv. 2022 May 12;3(3):100117. doi: 10.1016/j.xhgg.2022.100117. eCollection 2022 Jul 14. HGG Adv. 2022. PMID: 35647563 Free PMC article.
Rare variants in CAPN2 increase risk for isolated hypoplastic left heart syndrome.
Blue EE, White JJ, Dush MK, Gordon WW, Wyatt BH, White P, Marvin CT, Helle E, Ojala T, Priest JR, Jenkins MM, Almli LM, Reefhuis J, Pangilinan F, Brody LC, McBride KL, Garg V, Shaw GM, Romitti PA, Nembhard WN, Browne ML, Werler MM, Kay DM; National Birth Defects Prevention Study; University of Washington Center for Mendelian Genomics; Mital S, Chong JX, Nascone-Yoder NM, Bamshad MJ. Blue EE, et al. HGG Adv. 2023 Aug 12;4(4):100232. doi: 10.1016/j.xhgg.2023.100232. eCollection 2023 Oct 12. HGG Adv. 2023. PMID: 37663545 Free PMC article.
Targeted sequencing for hereditary breast and ovarian cancer in BRCA1/2-negative families reveals complex genetic architecture and phenocopies.
Plowman JN, Matoy EJ, Uppala LV, Draves SB, Watson CJ, Sefranek BA, Stacey ML, Anderson SP, Belshan MA, Blue EE, Huff CD, Fu Y, Stessman HAF. Plowman JN, et al. Among authors: blue ee. HGG Adv. 2024 May 10;5(3):100306. doi: 10.1016/j.xhgg.2024.100306. Online ahead of print. HGG Adv. 2024. PMID: 38734904 Free 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.
Admixture mapping implicates 13q33.3 as ancestry-of-origin locus for Alzheimer disease in Hispanic and Latino populations.
Horimoto ARVR, Boyken LA, Blue EE, Grinde KE, Nafikov RA, Sohi HK, Nato AQ Jr, Bis JC, Brusco LI, Morelli L, Ramirez A, Dalmasso MC, Temple S, Satizabal C, Browning SR, Seshadri S, Wijsman EM, Thornton TA. Horimoto ARVR, et al. Among authors: blue ee. HGG Adv. 2023 May 20;4(3):100207. doi: 10.1016/j.xhgg.2023.100207. eCollection 2023 Jul 13. HGG Adv. 2023. PMID: 37333771 Free PMC article.
Key variants via the Alzheimer's Disease Sequencing Project whole genome sequence data.
Wang Y, Sarnowski C, Lin H, Pitsillides AN, Heard-Costa NL, Choi SH, Wang D, Bis JC, Blue EE; Alzheimer's Disease Neuroimaging Initiative (ADNI); Boerwinkle E, De Jager PL, Fornage M, Wijsman EM, Seshadri S, Dupuis J, Peloso GM, DeStefano AL; Alzheimer's Disease Sequencing Project (ADSP). Wang Y, et al. Among authors: blue ee. Alzheimers Dement. 2024 May;20(5):3290-3304. doi: 10.1002/alz.13705. Epub 2024 Mar 21. Alzheimers Dement. 2024. PMID: 38511601 Free PMC article.
52 results