1 to 9 of 9 literature results

• A survey of genetic human cortical gene expression.

  It is widely assumed that genetic differences in gene expression underpin much of the difference among individuals and many of the quantitative traits…

  Authors: Amanda J Myers, J Raphael Gibbs, Jennifer A Webster, Kristen Rohrer, Alice Zhao, Lauren Marlowe, Mona Kaleem, Doris Leung, Leslie Bryden, Priti Nath,…

  Source: Nature genetics. 2007 Dec

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• Mutations in LOXHD1, an evolutionarily conserved stereociliary protein, disrupt hair cell function in mice and cause progressive hearing loss in humans.

  Hearing loss is the most common form of sensory impairment in humans and is frequently progressive in nature. Here we link a previously uncharacterize…

  Authors: Nicolas Grillet, Martin Schwander, Michael S Hildebrand, Anna Sczaniecka, Anand Kolatkar, Janice Velasco, Jennifer A Webster, Kimia Kahrizi, Hossein Najmabadi, William J Kimberling,…

  Source: American journal of human genetics. 2009 Sep

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• Genetic control of human brain transcript expression in Alzheimer disease.

  We recently surveyed the relationship between the human brain transcriptome and genome in a series of neuropathologically normal postmortem samples. W…

  Authors: Jennifer A Webster, J Raphael Gibbs, Jennifer Clarke, Monika Ray, Weixiong Zhang, Peter Holmans, Kristen Rohrer, Alice Zhao, Lauren Marlowe, Mona Kaleem,…

  Source: American journal of human genetics. 2009 Apr

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• GAB2 alleles modify Alzheimer's risk in APOE epsilon4 carriers.

  The apolipoprotein E (APOE) epsilon4 allele is the best established genetic risk factor for late-onset Alzheimer's disease (LOAD). We conducted genome…

  Authors: Eric M Reiman, Jennifer A Webster, Amanda J Myers, John Hardy, Travis Dunckley, Victoria L Zismann, Keta D Joshipura, John V Pearson, Diane Hu-Lince, Matthew J Huentelman,…

  Source: Neuron. 2007 Jun 7

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• Identification of the genetic basis for complex disorders by use of pooling-based genomewide single-nucleotide-polymorphism association studies.

  We report the development and validation of experimental methods, study designs, and analysis software for pooling-based genomewide association (GWA) …

  Authors: John V Pearson, Matthew J Huentelman, Rebecca F Halperin, Waibhav D Tembe, Stacey Melquist, Nils Homer, Marcel Brun, Szabolcs Szelinger, Keith D Coon, Victoria L Zismann,…

  Source: American journal of human genetics. 2007 Jan

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• Mutations in the first MyTH4 domain of MYO15A are a common cause of DFNB3 hearing loss.

  OBJECTIVES: To use clinical and genetic analyses to determine the mutation causing autosomal recessive nonsyndromic hearing loss (ARNSHL) segregating …

  Authors: A Eliot Shearer, Michael S Hildebrand, Jennifer A Webster, Kimia Kahrizi, Nicole C Meyer, Khadijeh Jalalvand, Sanaz Arzhanginy, William J Kimberling, Dietrich Stephan, Melanie Bahlo,…

  Source: The Laryngoscope. 2009 Apr

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• Sorl1 as an Alzheimer's disease predisposition gene?

  Alzheimer's disease (AD) is a neurodegenerative disorder characterized by progressively disabling impairments in memory, cognition, and non-cognitive …

  Authors: Jennifer A Webster, Amanda J Myers, John V Pearson, David W Craig, Diane Hu-Lince, Keith D Coon, Victoria L Zismann, Thomas Beach, Doris Leung, Leslie Bryden,…

  Source: Neuro-degenerative diseases. 2008

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• A high-density whole-genome association study reveals that APOE is the major susceptibility gene for sporadic late-onset Alzheimer's disease.

  OBJECTIVE: While the apolipoprotein E (APOE) epsilon allele is a well-established risk factor for late-onset Alzheimer's disease (AD), initial genome …

  Authors: Keith D Coon, Amanda J Myers, David W Craig, Jennifer A Webster, John V Pearson, Diane Hu Lince, Victoria L Zismann, Thomas G Beach, Doris Leung, Leslie Bryden,…

  Source: The Journal of clinical psychiatry. 2007 Apr

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• A novel splice site mutation in the RDX gene causes DFNB24 hearing loss in an Iranian family.

  Authors: A Eliot Shearer, Michael S Hildebrand, Catherine J Bromhead, Kimia Kahrizi, Jennifer A Webster, Batool Azadeh, William J Kimberling, Ali Anousheh, Arash Nazeri, Dietrich Stephan,…

  Source: American journal of medical genetics. Part A. 2009 Mar

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