- Advances in autism genetics: on the threshold of a new neurobiology
Brett S Abrahams
Neurology Department, and Semel Institute for Neuroscience and Behaviour, David Geffen School of Medicine, University of California at Los Angeles, Los Angeles, California 90095 1769 USA
Nat Rev Genet 9:341-55. 2008
..Systems biology approaches, including array-based expression profiling, are poised to provide additional insights into this group of disorders, in which heterogeneity, both genetic and phenotypic, is emerging as a dominant theme...
- Absence of CNTNAP2 leads to epilepsy, neuronal migration abnormalities, and core autism-related deficits
Program in Neurogenetics, Department of Neurology, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA
Cell 147:235-46. 2011
..These data demonstrate a functional role for CNTNAP2 in brain development and provide a new tool for mechanistic and therapeutic research in ASD...
- Altered functional connectivity in frontal lobe circuits is associated with variation in the autism risk gene CNTNAP2
Ashley A Scott-Van Zeeland
Center for Cognitive Neuroscience, Semel Institute for Neuroscience and Human Behavior, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA
Sci Transl Med 2:56ra80. 2010
..The convergence between genetic findings and cognitive-behavioral models of autism provides evidence that genetic variation at CNTNAP2 predisposes to diseases such as autism in part through modulation of frontal lobe connectivity...
- Connecting genes to brain in the autism spectrum disorders
Brett S Abrahams
Neurogenetics Program, Neurology Department, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095 1769, USA
Arch Neurol 67:395-9. 2010
..Understanding genetic data within an anatomical context will be critical to explain how individual risk factors operate to shape phenotypic presentation in patients...
- Unexpected embryonic stem (ES) cell mutations represent a concern in gene targeting: lessons from "fierce" mice
Ravinesh A Kumar
Doctorate Program in Medical Genetics, University of British Columbia, Vancouver, British Columbia, V5Z 4H4 Canada
Genesis 38:51-7. 2004
- Pathological aggression in "fierce" mice corrected by human nuclear receptor 2E1
Brett S Abrahams
Graduate Program in Neuroscience, British Columbia Research Institute for Children s and Women s Health, University of British Columbia, Vancouver, British Columbia, V5Z 4H4, Canada
J Neurosci 25:6263-70. 2005
..Use of this rescue paradigm with other genes will permit the direct evaluation of human genes hypothesized to play a causal role in psychiatric disease but for which evidence is lacking or equivocal...
- Linkage, association, and gene-expression analyses identify CNTNAP2 as an autism-susceptibility gene
UCLA Center for Autism Research and Treatment, Semel Institute of Neuroscience, David Geffen School of Medicine at UCLA, Los Angeles, CA 90095, USA
Am J Hum Genet 82:150-9. 2008
..Together, these results provide convergent evidence for involvement of CNTNAP2, a Neurexin family member, in autism, and demonstrate a connection between genetic risk for autism and specific brain structures...
- Molecular cytogenetic analysis and resequencing of contactin associated protein-like 2 in autism spectrum disorders
Program on Neurogenetics, Department of Genetics, Yale University School of Medicine, New Haven, CT 06520, USA
Am J Hum Genet 82:165-73. 2008