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2005 2
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2008 1
2009 1
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2015 1
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Page 1
Comprehensive molecular diagnostics in autosomal dominant polycystic kidney disease.
Rossetti S, Consugar MB, Chapman AB, Torres VE, Guay-Woodford LM, Grantham JJ, Bennett WM, Meyers CM, Walker DL, Bae K, Zhang QJ, Thompson PA, Miller JP, Harris PC; CRISP Consortium. Rossetti S, et al. Among authors: consugar mb. J Am Soc Nephrol. 2007 Jul;18(7):2143-60. doi: 10.1681/ASN.2006121387. Epub 2007 Jun 20. J Am Soc Nephrol. 2007. PMID: 17582161
Evidence of a third ADPKD locus is not supported by re-analysis of designated PKD3 families.
Paul BM, Consugar MB, Ryan Lee M, Sundsbak JL, Heyer CM, Rossetti S, Kubly VJ, Hopp K, Torres VE, Coto E, Clementi M, Bogdanova N, de Almeida E, Bichet DG, Harris PC. Paul BM, et al. Among authors: consugar mb. Kidney Int. 2014 Feb;85(2):383-92. doi: 10.1038/ki.2013.227. Epub 2013 Jun 12. Kidney Int. 2014. PMID: 23760289 Free PMC article.
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. 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.
Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible, and more sensitive for variant detection, than exome sequencing.
Consugar MB, Navarro-Gomez D, Place EM, Bujakowska KM, Sousa ME, Fonseca-Kelly ZD, Taub DG, Janessian M, Wang DY, Au ED, Sims KB, Sweetser DA, Fulton AB, Liu Q, Wiggs JL, Gai X, Pierce EA. Consugar MB, et al. Genet Med. 2015 Apr;17(4):253-261. doi: 10.1038/gim.2014.172. Epub 2014 Nov 20. Genet Med. 2015. PMID: 25412400 Free PMC article.
A novel mutation of LAMB2 in a multigenerational mennonite family reveals a new phenotypic variant of Pierson syndrome.
Mohney BG, Pulido JS, Lindor NM, Hogan MC, Consugar MB, Peters J, Pankratz VS, Nasr SH, Smith SJ, Gloor J, Kubly V, Spencer D, Nielson R, Puffenberger EG, Strauss KA, Morton DH, Eldahdah L, Harris PC. Mohney BG, et al. Among authors: consugar mb. Ophthalmology. 2011 Jun;118(6):1137-44. doi: 10.1016/j.ophtha.2010.10.009. Epub 2011 Jan 13. Ophthalmology. 2011. PMID: 21236492 Free PMC article.
13 results