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Characterization of large rearrangements in autosomal dominant polycystic kidney disease and the PKD1/TSC2 contiguous gene syndrome.
Consugar MB, Wong WC, Lundquist PA, Rossetti S, Kubly VJ, Walker DL, Rangel LJ, Aspinwall R, Niaudet WP, Ozen S, David A, Velinov M, Bergstralh EJ, Bae KT, Chapman AB, Guay-Woodford LM, Grantham JJ, Torres VE, Sampson JR, Dawson BD, Harris PC; CRISP Consortium. Consugar MB, et al. Among authors: lundquist pa. Kidney Int. 2008 Dec;74(11):1468-79. doi: 10.1038/ki.2008.485. Epub 2008 Sep 24. Kidney Int. 2008. PMID: 18818683 Free PMC article.
Improved Characterization of Complex β-Globin Gene Cluster Structural Variants Using Long-Read Sequencing.
Rangan A, Hein MS, Jenkinson WG, Koganti T, Aleff RA, Hilker CA, Blommel JH, Porter TR, Swanson KC, Lundquist P, Nguyen PL, Shi M, He R, Viswanatha DS, Jen J, Klee EW, Kipp BR, Hoyer JD, Wieben ED, Oliveira JL. Rangan A, et al. J Mol Diagn. 2021 Dec;23(12):1732-1740. doi: 10.1016/j.jmoldx.2021.08.013. J Mol Diagn. 2021. PMID: 34839893 Free article.
16 results