Publications by authors named "Mark Consugar"

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USMG5 Ashkenazi Jewish founder mutation impairs mitochondrial complex V dimerization and ATP synthesis.
Emanuele Barca, Rebecca D Ganetzky, Prasanth Potluri, Marti Juanola-Falgarona, Xiaowu Gai, Mark Consugar

Hum Mol Genet· October 2018

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Serum molecular signature for proliferative diabetic retinopathy in Saudi patients with type 2 diabetes.
Jianbo Pan, Sheng Liu, Michael Farkas, Mark Consugar, Donald J Zack

Mol Vis· January 2018

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Whole exome sequencing identification of novel candidate genes in patients with proliferative diabetic retinopathy.
Cindy Ung, Angie V Sanchez, Lishuang Shen, Samaneh Davoudi, Tina Ahmadi, Mark Consugar

Vision Res· October 2017

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Copy-number variation is an important contributor to the genetic causality of inherited retinal degenerations.
Kinga M Bujakowska, Rosario Fernandez-Godino, Emily Place, Mark Consugar, Daniel Navarro-Gomez

Genet Med· June 2017

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Efficient In Silico Identification of a Common Insertion in the MAK Gene which Causes Retinitis Pigmentosa.
Kinga M Bujakowska, Joseph White, Emily Place, Mark Consugar, Jason Comander

PLoS One· June 2016

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A novel HSD17B10 mutation impairing the activities of the mitochondrial RNase P complex causes X-linked intractable epilepsy and neurodevelopmental regression.
Marni J Falk, Xiaowu Gai, Megumi Shigematsu, Elisa Vilardo, Ryuichi Takase, Mark Consugar

RNA Biol· May 2016

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Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible, and more sensitive for variant detection, than exome sequencing.
Mark B Consugar, Daniel Navarro-Gomez, Emily M Place, Kinga M Bujakowska, Maria E Sousa

Genet Med· April 2015

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Mutations in IFT172 cause isolated retinal degeneration and Bardet-Biedl syndrome.
Kinga M Bujakowska, Qi Zhang, Anna M Siemiatkowska, Qin Liu, Emily Place, Mark Consugar

Hum Mol Genet· January 2015

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Targeted exon sequencing in Usher syndrome type I.
Kinga M Bujakowska, Mark Consugar, Emily Place, Shyana Harper, Jaclyn Lena

Invest Ophthalmol Vis Sci· December 2014

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Evidence of a third ADPKD locus is not supported by re-analysis of designated PKD3 families.
Binu M Paul, Mark B Consugar, Moonnoh Ryan Lee, Jamie L Sundsbak, Christina M Heyer

Kidney Int· February 2014

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Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy.
Xiaowu Gai, Daniele Ghezzi, Mark A Johnson, Caroline A Biagosch, Hanan E Shamseldin, Mark Consugar

Am J Hum Genet· September 2013

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Transcriptome analyses of the human retina identify unprecedented transcript diversity and 3.5 Mb of novel transcribed sequence via significant alternative splicing and novel genes.
Michael H Farkas, Gregory R Grant, Joseph A White, Maria E Sousa, Mark B Consugar

BMC Genomics· July 2013

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Mitochondrial disease genetic diagnostics: optimized whole-exome analysis for all MitoCarta nuclear genes and the mitochondrial genome.
Marni J Falk, Eric A Pierce, Mark Consugar, Michael H Xie, Moraima Guadalupe

Discov Med· December 2012

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NMNAT1 mutations cause Leber congenital amaurosis.
Marni J Falk, Qi Zhang, Eiko Nakamaru-Ogiso, Chitra Kannabiran, Zoe Fonseca-Kelly, Mark Consugar

Nat Genet· September 2012

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B9D1 is revealed as a novel Meckel syndrome (MKS) gene by targeted exon-enriched next-generation sequencing and deletion analysis.
Katharina Hopp, Christina M Heyer, Cynthia J Hommerding, Susan A Henke, Jamie L Sundsbak, Mark B Consugar

Hum Mol Genet· July 2011

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A novel mutation of LAMB2 in a multigenerational mennonite family reveals a new phenotypic variant of Pierson syndrome.
Brian G Mohney, Jose S Pulido, Noralane M Lindor, Marie C Hogan, Mark B Consugar

Ophthalmology· June 2011

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Investigation of primary cilia in the pathogenesis of biliary atresia.
Jane L Hartley, Christopher O'Callaghan, Sandro Rossetti, Mark Consugar, Christopher J Ward

J Pediatr Gastroenterol Nutr· April 2011

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Incompletely penetrant PKD1 alleles suggest a role for gene dosage in cyst initiation in polycystic kidney disease.
Sandro Rossetti, Vickie J Kubly, Mark B Consugar, Katharina Hopp, Sushmita Roy

Kidney Int· April 2009

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Characterization of large rearrangements in autosomal dominant polycystic kidney disease and the PKD1/TSC2 contiguous gene syndrome.
Mark B Consugar, Wai C Wong, Patrick A Lundquist, Sandro Rossetti, Vickie J Kubly

Kidney Int· December 2008

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Comprehensive molecular diagnostics in autosomal dominant polycystic kidney disease.
Sandro Rossetti, Mark B Consugar, Arlene B Chapman, Vicente E Torres, Lisa M Guay-Woodford

J Am Soc Nephrol· July 2007

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Molecular diagnostics of Meckel-Gruber syndrome highlights phenotypic differences between MKS1 and MKS3.
Mark B Consugar, Vickie J Kubly, Donna J Lager, Cynthia J Hommerding, Wai Chong Wong

Hum Genet· June 2007

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Cyst number but not the rate of cystic growth is associated with the mutated gene in autosomal dominant polycystic kidney disease.
Peter C Harris, Kyongtae T Bae, Sandro Rossetti, Vicente E Torres, Jared J Grantham, Mark Consugar

J Am Soc Nephrol· November 2006

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Loss of polycystin-1 in human cyst-lining epithelia leads to ciliary dysfunction.
Surya M Nauli, Sandro Rossetti, Robert J Kolb, Francis J Alenghat, Mark B Consugar

J Am Soc Nephrol· April 2006

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The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat.
Ursula M Smith, Mark Consugar, Louise J Tee, Brandy M McKee, Esther N Maina

Nat Genet· February 2006

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Clinical and molecular characterization defines a broadened spectrum of autosomal recessive polycystic kidney disease (ARPKD).
Magdalena Adeva, Mounif El-Youssef, Sandro Rossetti, Patrick S Kamath, Vickie Kubly, Mark B Consugar

Medicine (Baltimore)· January 2006

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