Publications
Transcriptional consequences of 16p11.2 deletion and duplication in mouse cortex and multiplex autism families.. Am J Hum Genet. 94(6):870-83.
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2014. Strategies to advance drug discovery in rare monogenic intellectual disability syndromes.. Int J Neuropsychopharmacol.
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2017. Stimulation of L-type calcium channels increases tyrosine hydroxylase and dopamine in ventral midbrain cells induced from somatic cells.. Stem Cells Transl Med. 9(6):697-712.
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2020. A roadmap for neurodevelopmental disease modeling for non-stem cell biologists.. Stem Cells Transl Med. 9(5):567-574.
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2020. A Rapid Pipeline to Model Rare Neurodevelopmental Disorders with Simultaneous CRISPR/Cas9 Gene Editing.. Stem Cells Transl Med. 6(3):886-896.
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2017. Proliferation and Differentiation Deficits are a Major Convergence Point for Neurodevelopmental Disorders.. Trends Neurosci. 39(5):290-9.
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2016. .
2017. Non-CG methylation and multiple histone profiles associate child abuse with immune and small GTPase dysregulation.. Nat Commun. 12(1):1132.
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2021. Neurons diversify astrocytes in the adult brain through sonic hedgehog signaling.. Science. 351(6275):849-54.
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2016. Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons.. Am J Hum Genet. 104(5):815-834.
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2019. Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons. The American Journal of Human Genetics.
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2019. A molecular model for neurodevelopmental disorders.. Transl Psychiatry. 5:e565.
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2015. Molecular convergence of neurodevelopmental disorders.. Am J Hum Genet. 95(5):490-508.
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2014. .
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2017. Lesch-Nyhan Syndrome: Models, Theories, and Therapies.. Mol Syndromol. 7(6):302-311.
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2016. Lesch-Nyhan disease causes impaired energy metabolism and reduced developmental potential in midbrain dopaminergic cells.. Stem Cell Reports. 16(7):1749-1762.
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2021. Investigation of genes important in neurodevelopment disorders in adult human brain.. Hum Genet. 134(10):1037-53.
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2015. Implication of LRRC4C and DPP6 in neurodevelopmental disorders.. Am J Med Genet A. 173(2):395-406.
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2017. Dose in Brain Development.. Front Pediatr. 7:482.
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2019. DNA Methylation Dynamics and Cocaine in the Brain: Progress and Prospects.. Genes (Basel). 8(5)
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2017. Disruption of GRIN2B Impairs Differentiation in Human Neurons.. Stem Cell Reports. 11(1):183-196.
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2018. A de novo frameshift mutation in chromodomain helicase DNA-binding domain 8 (CHD8): A case report and literature review.. Am J Med Genet A. 170A(5):1225-35.
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2016. Cover Image, Volume 173A, Number 2, February 2017.. Am J Med Genet A. 173(2):i.
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2017. Comparative analysis of self-injury in people with psychopathology or neurodevelopmental disorders.. Pediatr Clin North Am. 62(3):619-31.
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2015.