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Christopher N. Vlangos

University of Michigan

28

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2621

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Next-Generation Sequencing Identifies the Danforth's Short Tail Mouse Mutation as a Retrotransposon Insertion Affecting Ptf1a Expression

2013 PLOS Genetics
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The 24th International Mammalian Genome Conference meeting report

2011 Mammalian Genome
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COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness

2011 Journal of Clinical Investigation
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Comprehensive genetic analysis of OEIS complex reveals no evidence for a recurrent microdeletion or duplication

2011 American Journal of Medical Genetics Part A
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Nineteen novel NPHS1 mutations in a worldwide cohort of patients with congenital nephrotic syndrome (CNS)

2010 Nephrology Dialysis Transplantation
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Caudal regression in adrenocortical dysplasia (acd) mice is caused by telomere dysfunction with subsequent p53-dependent apoptosis.

2009 Developmental Biology
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A Systematic Approach to Mapping Recessive Disease Genes in Individuals from Outbred Populations

2009 PLOS Genetics
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Diagnosing Smith–Magenis Syndrome and Duplication 17p11.2 Syndrome by RAI1 Gene Copy Number Variation Using Quantitative Real-Time PCR

2008 Genetic Testing
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A milder variant of Pierson syndrome

2008 Pediatric Nephrology
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Specific Podocin Mutations Correlate with Age of Onset in Steroid-Resistant Nephrotic Syndrome

2008 Journal of The American Society of Nephrology
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