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Plos One|November 13, 2015
Efficient In Silico Identification of a Common Insertion in the MAK Gene which Causes Retinitis PigmentosaKinga M Bujakowska, Joseph White, Emily Place, et al.
American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation|December 25, 2002
The ENOS polymorphism is not associated with severity of renal disease in polycystic kidney disease 1Denise Walker, Mark Consugar, Jeff Slezak, et al.
Kidney International|July 9, 2003
A complete mutation screen of PKHD1 in autosomal-recessive polycystic kidney disease (ARPKD) pedigreesSandro Rossetti, Roser Torra, Eliecer Coto, et al.
Molecular Vision|June 17, 2016
Serum molecular signature for proliferative diabetic retinopathy in Saudi patients with type 2 diabetesJianbo Pan, Sheng Liu, Michael Farkas, et al.
Discovery Medicine|January 1, 2013
Mitochondrial disease genetic diagnostics: optimized whole-exome analysis for all MitoCarta nuclear genes and the mitochondrial genomeMarni J Falk, Eric A Pierce, Mark Consugar, et al.
RNA Biology|March 8, 2016
A novel HSD17B10 mutation impairing the activities of the mitochondrial RNase P complex causes X-linked intractable epilepsy and neurodevelopmental regressionMarni J Falk, Xiaowu Gai, Megumi Shigematsu, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 14, 2016
Copy-number variation is an important contributor to the genetic causality of inherited retinal degenerationsKinga M Bujakowska, Rosario Fernandez-Godino, Emily Place, et al.
Investigative Ophthalmology & Visual Science|December 4, 2014
Targeted exon sequencing in Usher syndrome type IKinga M Bujakowska, Mark Consugar, Emily Place, et al.
Vision Research|April 23, 2017
Whole exome sequencing identification of novel candidate genes in patients with proliferative diabetic retinopathyCindy Ung, Angie V Sanchez, Lishuang Shen, et al.
Human Molecular Genetics|June 20, 2018
USMG5 Ashkenazi Jewish founder mutation impairs mitochondrial complex V dimerization and ATP synthesisEmanuele Barca, Rebecca D Ganetzky, Prasanth Potluri, et al.
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