academic article

• Assessment of predicted enzymatic activity of α-N-acetylglucosaminidase variants of unknown significance for CAGI 2016..  Human mutation.  40:1519-1529. 2019
• Increased Metabolic Activity on 18F-Fluorodeoxyglucose Positron Emission Tomography-Computed Tomography in Human Immunodeficiency Virus-Associated Immune Reconstitution Inflammatory Syndrome..  Clinical infectious diseases : an official publication of the Infectious Diseases Society of America.  68:229-238. 2019
• Synaptic Vesicle Recycling Pathway Determines Neurotransmitter Content and Release Properties..  Neuron.  102:786-800.e5. 2019
• Rheb promotes brown fat thermogenesis by Notch-dependent activation of the PKA signaling pathway..  Journal of molecular cell biology.  :-. 2019
• Deregulation of DUX4 and ERG in acute lymphoblastic leukemia. 2016
• Dysregulation of miR-34a links neuronal development to genetic risk factors for bipolar disorder..  Molecular psychiatry.  20:573-584. 2015
• Genome-wide meta-analysis of myopia and hyperopia provides evidence for replication of 11 loci. 2014
• Meta-analysis of genome-wide association studies in five cohorts reveals common variants in RBFOX1, a regulator of tissue-specific splicing, associated with refractive error..  Human molecular genetics.  22:2754-2764. 2013
• A conserved signal and GTPase complex are required for the ciliary transport of polycystin-1..  Molecular biology of the cell.  22:3289-3305. 2011
• Olanzapine as alternative therapy for patients with haloperidol-induced extrapyramidal symptoms: results of a multicenter, collaborative trial in Latin America..  Journal of clinical psychopharmacology.  21:375-381. 2001