selected scholarly activity
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chapters
- The Use of Synaptosomes in Studying Autism Spectrum Disorder and Other Neurodevelopmental Disorders. Neuromethods. 287-296. 2018
- Neuropsychiatric Disease‐Associated Genetic Variation in the Wnt Pathway. 393-409. 2014
- Wnt Signaling in Mood and Psychotic Disorders. 379-391. 2014
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conferences
- BRCA1 IMPROVES ENDOTHELIAL FUNCTION AND LIMITS ATHEROSCLEROSIS. Canadian Journal of Cardiology. 120D-120D. 2010
- BRCA1 is a Novel Regulator of Endothelial Function and Limits Atherosclerosis. Circulation. S928-S928. 2009
- [P192]: The p75 neurotrophin receptor regulates activity‐dependent axon competition by antagonizing TrkA‐mediated Ras–Raf–MAPK signaling. International Journal of Developmental Neuroscience. 578-579. 2006
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journal articles
- Purinergic Signalling Mediates Aberrant Excitability of Developing Neuronal Circuits in the Fmr1 Knockout Mouse Model. Molecular Neurobiology. 61:9507-9528. 2024
- The autism susceptibility kinase, TAOK2, phosphorylates eEF2 and modulates translation. Science Advances. 10:eadf7001. 2024
- Human pluripotent stem cell (hPSC) and organoid models of autism: opportunities and limitations. Translational Psychiatry. 13:217. 2023
- Impaired OTUD7A-dependent Ankyrin regulation mediates neuronal dysfunction in mouse and human models of the 15q13.3 microdeletion syndrome. Molecular Psychiatry. 28:1747-1769. 2023
- Disruption of the autism-associated gene SCN2A alters synaptic development and neuronal signaling in patient iPSC-glutamatergic neurons. Frontiers in Cellular Neuroscience. 17:1239069. 2023
- Editorial: Molecular mechanisms of dendritic spine pathology in neurodevelopmental and psychiatric disorders. Frontiers in Molecular Neuroscience. 16:1159451. 2023
- Origin of Sex-Biased Mental Disorders: Do Males and Females Experience Different Selective Regimes?. Journal of Molecular Evolution. 90:401-417. 2022
- Neuron-specific protein network mapping of autism risk genes identifies shared biological mechanisms and disease-relevant pathologies. Cell Reports. 41:111678-111678. 2022
- TAOK2 rescues autism-linked developmental deficits in a 16p11.2 microdeletion mouse model. Molecular Psychiatry. 27:4707-4721. 2022
- Neurodevelopmental copy-number variants: A roadmap to improving outcomes by uniting patient advocates, researchers, and clinicians for collective impact. American Journal of Human Genetics. 109:1353-1365. 2022
- Origin of Sex-Biased Mental Disorders: An Evolutionary Perspective. Journal of Molecular Evolution. 89:195-213. 2021
- Proteomic Analysis Reveals Autism-Associated Gene DIXDC1 Regulates Proteins Associated with Mitochondrial Organization and Function. Journal of Proteome Research. 20:1052-1062. 2021
- A mini-review: Bridging the gap between autism spectrum disorder and pain comorbidities. Canadian Journal of Pain. 4:37-44. 2020
- Emerging proteomic approaches to identify the underlying pathophysiology of neurodevelopmental and neurodegenerative disorders. Molecular Autism. 11:27. 2020
- Regulation of autism-relevant behaviors by cerebellar–prefrontal cortical circuits. Nature Neuroscience. 23:1102-1110. 2020
- Report of the first patient with a homozygous OTUD7A variant responsible for epileptic encephalopathy and related proteasome dysfunction. Clinical Genetics. 97:567-575. 2020
- Altered TAOK2 activity causes autism-related neurodevelopmental and cognitive abnormalities through RhoA signaling. Molecular Psychiatry. 24:1329-1350. 2019
- CNTN5-/+or EHMT2-/+human iPSC-derived neurons from individuals with autism develop hyperactive neuronal networks. eLife. 8:e40092. 2019
- Complete Disruption of Autism-Susceptibility Genes by Gene Editing Predominantly Reduces Functional Connectivity of Isogenic Human Neurons. Stem Cell Reports. 12:427-429. 2019
- A patient-derived cellular model for Huntington’s disease reveals phenotypes at clinically relevant CAG lengths. Molecular Biology of the Cell. 29:2809-2820. 2018
- Complete Disruption of Autism-Susceptibility Genes by Gene Editing Predominantly Reduces Functional Connectivity of Isogenic Human Neurons. Stem Cell Reports. 11:1211-1225. 2018
- OTUD7A Regulates Neurodevelopmental Phenotypes in the 15q13.3 Microdeletion Syndrome. American Journal of Human Genetics. 102:278-295. 2018
- Wnt signaling networks in autism spectrum disorder and intellectual disability. Journal of Neurodevelopmental Disorders. 8:45. 2016
- DIXDC1 Phosphorylation and Control of Dendritic Morphology Are Impaired by Rare Genetic Variants. Cell Reports. 17:1892-1904. 2016
- Adult skin-derived precursor Schwann cells exhibit superior myelination and regeneration supportive properties compared to chronically denervated nerve-derived Schwann cells. Experimental Neurology. 278:127-142. 2016
- Neuregulin-1 Regulates Cortical Inhibitory Neuron Dendrite and Synapse Growth through DISC1. Neural Plasticity. 2016:1-15. 2016
- Single Transcription Factor Conversion of Human Blood Fate to NPCs with CNS and PNS Developmental Capacity. Cell Reports. 11:1367-1376. 2015
- Ankyrin-G regulates neurogenesis and Wnt signaling by altering the subcellular localization of β-catenin. Molecular Psychiatry. 20:388-397. 2015
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An emerging role for Wnt and
GSK3 signaling pathways in schizophrenia. Clinical Genetics. 83:511-517. 2013 - Common DISC1 Polymorphisms Disrupt Wnt/GSK3β Signaling and Brain Development. Neuron. 72:545-558. 2011
- Dixdc1 Is a Critical Regulator of DISC1 and Embryonic Cortical Development. Neuron. 67:33-48. 2010
- MicroTUB(B3)ules and Brain Development. Cell. 140:30-32. 2010
- Understanding the Role of DISC1 in Psychiatric Disease and during Normal Development. Journal of Neuroscience. 29:12768-12775. 2009
- Disrupted in Schizophrenia 1 Regulates Neuronal Progenitor Proliferation via Modulation of GSK3β/β-Catenin Signaling. Cell. 136:1017-1031. 2009
- Developmental axon pruning mediated by BDNF-p75NTR–dependent axon degeneration. Nature Neuroscience. 11:649-658. 2008
- Activity Regulates Positive and Negative Neurotrophin-Derived Signals to Determine Axon Competition. Neuron. 45:837-845. 2005
- Semaphorin 3F Antagonizes Neurotrophin-Induced Phosphatidylinositol 3-Kinase and Mitogen-Activated Protein Kinase Kinase Signaling: A Mechanism for Growth Cone Collapse. Journal of Neuroscience. 23:7602-7609. 2003
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preprints
- Direct control of translational elongation by TAOK2β highlights altered protein synthesis as a fundamental underlying component of autism 2022
- Neuron-specific protein network mapping of autism risk genes identifies shared biological mechanisms and disease relevant pathologies 2022
- Impaired OTUD7A-dependent Ankyrin regulation mediates neuronal dysfunction in mouse and human models of the 15q13.3 microdeletion syndrome 2022
- Disruption of the autism-associated gene SCN2A alters synaptic development and neuronal signaling in patient iPSC-glutamatergic neurons 2021
- CNTN5−/+orEHMT2−/+iPSC-Derived Neurons from Individuals with Autism Develop Hyperactive Neuronal Networks 2018
- Complete Disruption of Autism-Susceptibility Genes by Gene-Editing Predominantly Reduces Functional Connectivity of Isogenic Human Neurons 2018
- A Patient-Derived Cellular Model for Huntington’s Disease Reveals Phenotypes at Clinically Relevant CAG Lengths 2018