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Mark B. Consugar

Comprehensive Molecular Diagnostics in Autosomal Dominant Polycystic Kidney Disease
2007 · Sandro Rossetti, Mark B. Consugar, et al. · Journal of the American Society of Nephrology · 440
Incompletely penetrant PKD1 alleles suggest a role for gene dosage in cyst initiation in polycystic kidney disease
2009 · Sandro Rossetti, Vickie J. Kubly, et al. · Kidney International · 301
The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat
2006 · Ursula M Smith, Mark Consugar, et al. · Nature Genetics · 289
Clinical and Molecular Characterization Defines a Broadened Spectrum of Autosomal Recessive Polycystic Kidney Disease (ARPKD)
2006 · Magdalena Adeva, Mounif El-Youssef, et al. · Medicine · 273
Cyst Number but Not the Rate of Cystic Growth Is Associated with the Mutated Gene in Autosomal Dominant Polycystic Kidney Disease
2006 · Peter C. Harris, Kyongtae T. Bae, et al. · Journal of the American Society of Nephrology · 271
Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible, and more sensitive for variant detection, than exome sequencing
2014 · Mark B. Consugar, Daniel Navarro-Gomez, et al. · Genetics in Medicine · 246
NMNAT1 mutations cause Leber congenital amaurosis
2012 · Marni J Falk, Qi Zhang, et al. · Nature Genetics · 200
Loss of Polycystin-1 in Human Cyst-Lining Epithelia Leads to Ciliary Dysfunction
2006 · Surya M. Nauli, Sandro Rossetti, et al. · Journal of the American Society of Nephrology · 190
Renal Phosphate Wasting in Fibrous Dysplasia of Bone Is Part of a Generalized Renal Tubular Dysfunction Similar to That Seen in Tumor-Induced Osteomalacia
2001 · Michael T. Collins, Caroline Chebli, et al. · Journal of Bone and Mineral Research · 189
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Mutations in FBXL4, Encoding a Mitochondrial Protein, Cause Early-Onset Mitochondrial Encephalomyopathy
2013 · Xiaowu Gai, Daniele Ghezzi, et al. · The American Journal of Human Genetics · 180
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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
2013 · Michael H Farkas, Gregory R Grant, et al. · BMC Genomics · 163
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Mutations in IFT172 cause isolated retinal degeneration and Bardet–Biedl syndrome
2014 · Kinga M. Bujakowska, Qi Zhang, et al. · Human Molecular Genetics · 159
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Characterization of large rearrangements in autosomal dominant polycystic kidney disease and the PKD1/TSC2 contiguous gene syndrome
2008 · Mark B. Consugar, Wai C. Wong, et al. · Kidney International · 142
A complete mutation screen of PKHD1 in autosomal-recessive polycystic kidney disease (ARPKD) pedigrees
2003 · Sandro Rossetti, Roser Torra, et al. · Kidney International · 132
B9D1 is revealed as a novel Meckel syndrome (MKS) gene by targeted exon-enriched next-generation sequencing and deletion analysis
2011 · Katharina Hopp, Christina M. Heyer, et al. · Human Molecular Genetics · 85
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Molecular diagnostics of Meckel–Gruber syndrome highlights phenotypic differences between MKS1 and MKS3
2007 · Mark B. Consugar, Vickie J. Kubly, et al. · Human Genetics · 78
Self-hydroxylation of perbenzoic acids at a nonheme iron(ii) center
2005 · Na Young Oh, Mi Sook Seo, et al. · Chemical Communications · 63
Copy-number variation is an important contributor to the genetic causality of inherited retinal degenerations
2016 · Kinga M. Bujakowska, Rosario Fernandez-Godino, et al. · Genetics in Medicine · 61
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USMG5 Ashkenazi Jewish founder mutation impairs mitochondrial complex V dimerization and ATP synthesis
2018 · Emanuele Barca, Rebecca D Ganetzky, et al. · Human Molecular Genetics · 59
Mitochondrial disease genetic diagnostics: optimized whole-exome analysis for all MitoCarta nuclear genes and the mitochondrial genome.
2012 · Marni J Falk, Eric A Pierce, et al. · PubMed · 57
A novel HSD17B10 mutation impairing the activities of the mitochondrial RNase P complex causes X-linked intractable epilepsy and neurodevelopmental regression
2016 · Marni J. Falk, Xiaowu Gai, et al. · RNA Biology · 47
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Evidence of a third ADPKD locus is not supported by re-analysis of designated PKD3 families
2013 · Binu M. Paul, Mark B. Consugar, et al. · Kidney International · 47
The ENOS polymorphism is not associated with severity of renal disease in polycystic kidney disease 1
2002 · Denise Walker, Mark Consugar, et al. · American Journal of Kidney Diseases · 46
Whole exome sequencing identification of novel candidate genes in patients with proliferative diabetic retinopathy
2017 · Cindy Ung, Angie V. Sanchez, et al. · Vision Research · 45
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Haplotype analysis improves molecular diagnostics of autosomal recessive polycystic kidney disease
2005 · Mark B. Consugar, Sarah A. Anderson, et al. · American Journal of Kidney Diseases · 45
Works count: 48
Citation count: 3,966
H-index: 28
I10-index: 31
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