Found 8 results
Filters: Author is Otto, Edgar A  [Clear All Filters]
Crawford BD, Gillies CE, Robertson CC, Kretzler M, Otto EA, Vega-Warner V, Sampson MG.  2017.  Erratum to: Evaluating Mendelian nephrotic syndrome genes for evidence for risk alleles or oligogenicity that explain heritability.. Pediatr Nephrol. 32(7):1285.
Lopez-Rivera E, Liu YP, Verbitsky M, Anderson BR, Capone VP, Otto EA, Yan Z, Mitrotti A, Martino J, Steers NJ et al..  2017.  Genetic Drivers of Kidney Defects in the DiGeorge Syndrome.. N Engl J Med. 376(8):742-754.
Lu H, Galeano MCRondón, Ott E, Kaeslin G, P Kausalya J, Kramer C, Ortiz-Brüchle N, Hilger N, Metzis V, Hiersche M et al..  2017.  Mutations in DZIP1L, which encodes a ciliary-transition-zone protein, cause autosomal recessive polycystic kidney disease.. Nat Genet. 49(7):1025-1034.
Sampson MG, Robertson CC, Martini S, Mariani LH, Lemley KV, Gillies CE, Otto EA, Kopp JB, Randolph A, Vega-Warner V et al..  2016.  Integrative Genomics Identifies Novel Associations with APOL1 Risk Genotypes in Black NEPTUNE Subjects.. J Am Soc Nephrol. 27(3):814-23.
Gillies CE, Otto EA, Vega-Warner V, Robertson CC, Sanna-Cherchi S, Gharavi A, Crawford B, Bhimma R, Winkler C, Kang HMin et al..  2016.  tarSVM: Improving the accuracy of variant calls derived from microfluidic PCR-based targeted next generation sequencing using a support vector machine.. BMC Bioinformatics. 17(1):233.
Sampson MG, Gillies CE, Robertson CC, Crawford B, Vega-Warner V, Otto EA, Kretzler M, Kang HMin.  2016.  Using Population Genetics to Interrogate the Monogenic Nephrotic Syndrome Diagnosis in a Case Cohort.. J Am Soc Nephrol. 27(7):1970-83.
Ashraf S, Gee HYung, Woerner S, Xie LX, Vega-Warner V, Lovric S, Fang H, Song X, Cattran DC, Avila-Casado C et al..  2013.  ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption.. J Clin Invest. 123(12):5179-89.
Gee HYung, Saisawat P, Ashraf S, Hurd TW, Vega-Warner V, Fang H, Beck BB, Gribouval O, Zhou W, Diaz KA et al..  2013.  ARHGDIA mutations cause nephrotic syndrome via defective RHO GTPase signaling.. J Clin Invest. 123(8):3243-53.