1 to 10 of 19 literature results

• Genotype, haplotype and copy-number variation in worldwide human populations.

  Genome-wide patterns of variation across individuals provide a powerful source of data for uncovering the history of migration, range expansion, and a…

  Authors: Mattias Jakobsson, Sonja W Scholz, Paul Scheet, J Raphael Gibbs, Jenna M VanLiere, Hon-Chung Fung, Zachary A Szpiech, James H Degnan, Kai Wang, Rita Guerreiro,…

  Source: Nature. 2008 Feb 21

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• 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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• Genome-wide association study reveals genetic risk underlying Parkinson's disease.

  We performed a genome-wide association study (GWAS) in 1,713 individuals of European ancestry with Parkinson's disease (PD) and 3,978 controls. After …

  Authors: Javier Simón-Sánchez, Claudia Schulte, Jose M Bras, Manu Sharma, J Raphael Gibbs, Daniela Berg, Coro Paisan-Ruiz, Peter Lichtner, Sonja W Scholz, Dena G Hernandez,…

  Source: Nature genetics. 2009 Dec

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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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• Comprehensive analysis of LRRK2 in publicly available Parkinson's disease cases and neurologically normal controls.

  Mutation of LRRK2, encoding dardarin, is the most common known genetic cause of Parkinson's disease (PD). The large size of this gene and the relative…

  Authors: Coro Paisán-Ruíz, Priti Nath, Nicole Washecka, J Raphael Gibbs, Andrew B Singleton

  Source: Human mutation. 2008 Apr

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• Genomewide SNP assay reveals mutations underlying Parkinson disease.

  Technologies that allow genotyping of more than 100,000 polymorphisms in a single assay enable the execution of genomewide SNP (GWSNP) association stu…

  Authors: Javier Simon-Sanchez, Sonja Scholz, Maria del Mar Matarin, Hon-Chung Fung, Dena Hernandez, J Raphael Gibbs, Angela Britton, John Hardy, Andrew Singleton

  Source: Human mutation. 2008 Feb

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• SNCA variants are associated with increased risk for multiple system atrophy.

  To test whether the synucleinopathies Parkinson's disease and multiple system atrophy (MSA) share a common genetic etiology, we performed a candidate …

  Authors: Sonja W Scholz, Henry Houlden, Claudia Schulte, Manu Sharma, Abi Li, Daniela Berg, Anna Melchers, Reema Paudel, J Raphael Gibbs, Javier Simon-Sanchez,…

  Source: Annals of neurology. 2009 May

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• Genome-wide SNP assay reveals structural genomic variation, extended homozygosity and cell-line induced alterations in normal individuals.

  The recent hapmap effort has placed focus on the application of genome-wide SNP analysis to assess the contribution of genetic variability, particular…

  Authors: Javier Simon-Sanchez, Sonja Scholz, Hon-Chung Fung, Mar Matarin, Dena Hernandez, J Raphael Gibbs, Angela Britton, Fabienne Wavrant de Vrieze, Elizabeth Peckham, Katrina Gwinn-Hardy,…

  Source: Human molecular genetics. 2007 Jan 1

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• A two-stage genome-wide association study of sporadic amyotrophic lateral sclerosis.

  The cause of sporadic amyotrophic lateral sclerosis (ALS) is largely unknown, but genetic factors are thought to play a significant role in determinin…

  Authors: Adriano Chiò, Jennifer C Schymick, Gabriella Restagno, Sonja W Scholz, Federica Lombardo, Shiao-Lin Lai, Gabriele Mora, Hon-Chung Fung, Angela Britton, Sampath Arepalli,…

  Source: Human molecular genetics. 2009 Apr 15

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• DYT16, a novel young-onset dystonia-parkinsonism disorder: identification of a segregating mutation in the stress-response protein PRKRA.

  BACKGROUND: Dystonia and parkinsonism may present as part of the same genetic disorder. Identification of the genetic mutations that underlie these di…

  Authors: Sarah Camargos, Sonja Scholz, Javier Simón-Sánchez, Coro Paisán-Ruiz, Patrick Lewis, Dena Hernandez, Jinhui Ding, J Raphael Gibbs, Mark R Cookson, Jose Bras,…

  Source: Lancet neurology. 2008 Mar

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