Publications
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. Disruption of GRIN2B Impairs Differentiation in Human Neurons.. Stem Cell Reports. 11(1):183-196.
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2018. 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. 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. 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. 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. 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.