Advances in autism genetics: on the threshold of a new neurobiologyBrett 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
Olga Penagarikano
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 disordersBrett 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" miceRavinesh A Kumar
Doctorate Program in Medical Genetics, University of British Columbia, Vancouver, British Columbia, V5Z 4H4 Canada
Genesis 38:51-7. 2004
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- 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
Maricela Alarcon
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
Betul Bakkaloglu
Program on Neurogenetics, Department of Genetics, Yale University School of Medicine, New Haven, CT 06520, USA
Am J Hum Genet 82:165-73. 2008
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