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    Query Data
    Data from Labs
    Data from Papers
    Query Instructions
    Autism Genome Project
    Scherer, S.; Devlin, B
    The Autism Genome Project (AGP) Consortium represents more than 50 centers in North America and Europe. In an ongoing effort, the international AGP Consortium is collecting ASD families for ongoing genetic studies. The first phase of this initiative involved examining genetic linkage and...
    Genotype Calls
    Genotype Calls, part 2
    Genotyping
    Gastrointestinal Dysfunction in Autism: Parental Report, Clinical Evaluation, and Associated Factors
    Levitt, Pat;  Gorrindo, Phillip Williams, Kent C. Lee, Evon B. Walker, Lynn S. McGrew, Susan G. Levitt, Pat
    The objectives of this study were to characterize gastrointestinal dysfunction (GID) in autism spectrum disorder (ASD), to examine parental reports of GID relative to evaluations by pediatric gastroenterologists, and to explore factors associated with GID in ASD. One hundred twenty-one children...
    Results published in Autism Research
    Statistical
    Somatic copy-number mosaicism in human skin revealed by induced pluripotent stem cell
    Vaccarino, Flora;  Abyzov, Alexej; Mariani, Jessica; Palejev, Dean; Zhang, Ying; Haney, Michael Seamus; Tomasini, Livia; Ferrandino, Anthony; Rosenberg Belmaker, Lior; Szekely, Anna; Wilson, Michael; Kocabas, Arif; Calixto, Nathaniel E.; Grigorenko, Elena L.; Huttner, Anita; Chawarska, Katarzyna; Weissman, Sherman; Urban, Alexander Eckehart; Gerstein, Mark; Vaccarino, Flora
    Reprogramming human somatic cells into induced pluripotent stem cells (iPSC) has been suspected of causing de novo copy number variations (CNVs). To explore this issue, we performed a whole-genome and transcriptome analysis of 20 human iPSC lines derived from primary skin fibroblasts of 7...
    publication in Nature
    R01MH89176
    R33MH087879
    SFARI GRANT 137055 R09345
    Genotyping
    Microarray
    Using Whole-Exome Sequencing to Identify Inherited Causes of Autism
    Walsh, Christopher
    Despite significant heritability of autism spectrum disorders (ASDs), their extreme genetic heterogeneity has proven challenging for gene discovery. Studies of primarily simplex families have implicated de novo copy number changes and point mutations, but are not optimally designed to identify...
    publication in Neuron
    Genotyping
    Whole-Exome Sequencing and Homozygosity Analysis Implicate Depolarization-Regulated Neuronal Genes in Autism
    Walsh, Christopher;  Chahrour, Maria H.; Yu, Timothy W.; Lim, Elaine T.; Ataman, Bulent; Coulter, Michael E.; Hill, R. Sean; Stevens, Christine R.; Schubert, Christian R.; Gabriel, Stacey B.; Walsh, Christopher A.
    Although autism has a clear genetic component, the high genetic heterogeneity of the disorder has been a challenge for the identification of causative genes. We used homozygosity analysis to identify probands from nonconsanguineous families that showed evidence of distant shared ancestry,...
    PLOS Genetics publication
    Genotyping