Mol Autism 2015 7;6:43. Epub 2015 Jul 7.
John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, FL 33136 USA ; Dr. John T. Macdonald Foundation Department of Human Genetics, Miller School of Medicine, University of Miami, Miami, FL 33136 USA.
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Mol Autism 2017 21;8:14. Epub 2017 Mar 21.
Molecular Physiology & Biophysics, Vanderbilt University, Nashville, TN USA.
Background: Autism spectrum disorder (ASD) is one of the most highly heritable neuropsychiatric disorders, but underlying molecular mechanisms are still unresolved due to extreme locus heterogeneity. Leveraging meaningful endophenotypes or biomarkers may be an effective strategy to reduce heterogeneity to identify novel ASD genes. Numerous lines of evidence suggest a link between hyperserotonemia, i. Read More
Mol Autism 2012 Sep 28;3(1). Epub 2012 Sep 28.
Department of Human Genetics, Emory University School of Medicine, Whitehead Biomedical Research Building, Suite 301, Atlanta, 30322, GA, USA.
Background: Autism spectrum disorder (ASD) is highly heritable, but the genetic risk factors for it remain largely unknown. Although structural variants with large effect sizes may explain up to 15% ASD, genome-wide association studies have failed to uncover common single nucleotide variants with large effects on phenotype. The focus within ASD genetics is now shifting to the examination of rare sequence variants of modest effect, which is most often achieved via exome selection and sequencing. Read More
J Hum Genet 2016 Mar 19;61(3):199-206. Epub 2015 Nov 19.
Molecular Research Center for Children's Mental Development, United Graduate School of Child Development, Osaka University, Osaka, Japan.
Autism spectrum disorder (ASD) is a complex group of clinically heterogeneous neurodevelopmental disorders with unclear etiology and pathogenesis. Genetic studies have identified numerous candidate genetic variants, including de novo mutated ASD-associated genes; however, the function of these de novo mutated genes remains unclear despite extensive bioinformatics resources. Accordingly, it is not easy to assign priorities to numerous candidate ASD-associated genes for further biological analysis. Read More
PLoS Genet 2013 15;9(8):e1003671. Epub 2013 Aug 15.
Lane Center of Computational Biology, Carnegie Mellon University, Pittsburgh, Pennsylvania, United States of America.
De novo mutations affect risk for many diseases and disorders, especially those with early-onset. An example is autism spectrum disorders (ASD). Four recent whole-exome sequencing (WES) studies of ASD families revealed a handful of novel risk genes, based on independent de novo loss-of-function (LoF) mutations falling in the same gene, and found that de novo LoF mutations occurred at a twofold higher rate than expected by chance. Read More