1 to 6 of 6 literature results

• A genome-wide analysis identifies genetic variants in the RELN gene associated with otosclerosis.

  Otosclerosis is a common form of progressive hearing loss, characterized by abnormal bone remodeling in the otic capsule. The etiology of the disease …

  Authors: Isabelle Schrauwen, Megan Ealy, Matthew J Huentelman, Melissa Thys, Nils Homer, Kathleen Vanderstraeten, Erik Fransen, Jason J Corneveaux, David W Craig, Mireille Claustres,…

  Source: American journal of human genetics. 2009 Mar

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• GRM7 variants confer susceptibility to age-related hearing impairment.

  Age-related hearing impairment (ARHI), or presbycusis, is the most prevalent sensory impairment in the elderly. ARHI is a complex disease caused by an…

  Authors: Rick A Friedman, Lut Van Laer, Matthew J Huentelman, Sonal S Sheth, Els Van Eyken, Jason J Corneveaux, Waibhav D Tembe, Rebecca F Halperin, Ashley Q Thorburn, Sofie Thys,…

  Source: Human molecular genetics. 2009 Feb 15

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• Peripheral delivery of a ROCK inhibitor improves learning and working memory.

  Previously, utilizing a series of genome-wide association, brain imaging, and gene expression studies we implicated the KIBRA gene and the RhoA/ROCK p…

  Authors: Matthew J Huentelman, Dietrich A Stephan, Joshua Talboom, Jason J Corneveaux, David M Reiman, Jill D Gerber, Carol A Barnes, Gene E Alexander, Eric M Reiman, Heather A Bimonte-Nelson

  Source: Behavioral neuroscience. 2009 Feb

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• SNP-based chromosomal copy number ascertainment following multiple displacement whole-genome amplification.

  Whole genome amplification by multiple displacement amplification (MDA) offers investigators using precious genomic DNA samples a high fidelity method…

  Authors: Jason J Corneveaux, Michael C Kruer, Diane Hu-Lince, Keri E Ramsey, Victoria L Zismann, Dietrich A Stephan, David W Craig, Matthew J Huentelman

  Source: BioTechniques. 2007 Jan

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• Identification of genetic variants using bar-coded multiplexed sequencing.

  We developed a generalized framework for multiplexed resequencing of targeted human genome regions on the Illumina Genome Analyzer using degenerate in…

  Authors: David W Craig, John V Pearson, Szabolcs Szelinger, Aswin Sekar, Margot Redman, Jason J Corneveaux, Traci L Pawlowski, Trisha Laub, Gary Nunn, Dietrich A Stephan,…

  Source: Nature methods. 2008 Oct

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• SNiPer: improved SNP genotype calling for Affymetrix 10K GeneChip microarray data.

  BACKGROUND: High throughput microarray-based single nucleotide polymorphism (SNP) genotyping has revolutionized the way genome-wide linkage scans and …

  Authors: Matthew J Huentelman, David W Craig, Albert D Shieh, Jason J Corneveaux, Diane Hu-Lince, John V Pearson, Dietrich A Stephan

  Source: BMC genomics. 2005

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