Abstract

This Core will be responsible for identifying all the participants in the studies of the Center. This core will identify potential participants, contact them for participation, and enroll them in the study. The core will help arrange appointments either in the clinics or in the home. They will also enroll parents. The Core will also perform numerous assessments on each of the participants, and draw blood samples for DNA extraction. There will be substantial coordination between the Duke and Vanderbilt arms of the Core. In addition, this Core will provide the bioinformatics support to database all the relevant clinical, medical history, family history, and genotypic information collected as part of the Center. The PEDIGENE@ system, already in place at both the DUMC and VUMC sites, will be used as the primary database system. PEDIGENE@ is already being used for numerous other projects and has been field tested for over 10 years.

  Funding Agency

Agency
National Institute of Health (NIH)
Institute
National Institute of Neurological Disorders and Stroke (NINDS)
Type
Research Program Projects (P01)
Project #
7P01NS026630-19
Application #
7489417
Study Section
National Institute of Neurological Disorders and Stroke Initial Review Group (NSD)
Project Start
Project End
Budget Start
2007-04-01
Budget End
2008-03-31
Support Year
19
Fiscal Year
2007
Total Cost
$428,276
Indirect Cost

  Institution

Name
University of Miami School of Medicine
Department
Type
DUNS #
052780918
City
Coral Gables
State
FL
Country
United States
Zip Code
33146

  Publications

Griswold, Anthony J; Van Booven, Derek; Cuccaro, Michael L et al. (2018) Identification of rare noncoding sequence variants in gamma-aminobutyric acid A receptor, alpha 4 subunit in autism spectrum disorder. Neurogenetics 19:17-26
Zhu, Zuobin; Lu, Xitong; Yuan, Dejian et al. (2017) Close genetic relationships between a spousal pair with autism-affected children and high minor allele content in cases in autism-associated SNPs. Genomics 109:9-15
Correia, Catarina; Oliveira, Guiomar; Vicente, Astrid M (2014) Protein interaction networks reveal novel autism risk genes within GWAS statistical noise. PLoS One 9:e112399
Gaugler, Trent; Klei, Lambertus; Sanders, Stephan J et al. (2014) Most genetic risk for autism resides with common variation. Nat Genet 46:881-5
Hadjixenofontos, Athena; Schmidt, Michael A; Whitehead, Patrice L et al. (2013) Evaluating mitochondrial DNA variation in autism spectrum disorders. Ann Hum Genet 77:9-21
Anney, Richard; Klei, Lambertus; Pinto, Dalila et al. (2012) Individual common variants exert weak effects on the risk for autism spectrum disorders. Hum Mol Genet 21:4781-92
Cukier, Holly N; Lee, Joycelyn M; Ma, Deqiong et al. (2012) The expanding role of MBD genes in autism: identification of a MECP2 duplication and novel alterations in MBD5, MBD6, and SETDB1. Autism Res 5:385-97
Griswold, Anthony J; Ma, Deqiong; Cukier, Holly N et al. (2012) Evaluation of copy number variations reveals novel candidate genes in autism spectrum disorder-associated pathways. Hum Mol Genet 21:3513-23
Casey, Jillian P; Magalhaes, Tiago; Conroy, Judith M et al. (2012) A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder. Hum Genet 131:565-79
Cuccaro, Michael L; Tuchman, Roberto F; Hamilton, Kara L et al. (2012) Exploring the relationship between autism spectrum disorder and epilepsy using latent class cluster analysis. J Autism Dev Disord 42:1630-41

Showing the most recent 10 out of 204 publications