Publications
Exome sequencing reveals novel genetic loci influencing obesity-related traits in Hispanic children. Obesity (Silver Spring) 25, 1270-1276 (2017).
Community-based recruitment and exome sequencing indicates high diagnostic yield in adults with intellectual disability. Mol Genet Genomic Med 8, e1439 (2020).
Differential NOVA2-Mediated Splicing in Excitatory and Inhibitory Neurons Regulates Cortical Development and Cerebellar Function. Neuron 101, 707-720.e5 (2019).
Type 2 and interferon inflammation regulate SARS-CoV-2 entry factor expression in the airway epithelium. Nat Commun 11, 5139 (2020).
Type 2 and interferon inflammation strongly regulate SARS-CoV-2 related gene expression in the airway epithelium. bioRxiv (2020). doi:10.1101/2020.04.09.034454
Characterizing reduced coverage regions through comparison of exome and genome sequencing data across 10 centers. Genet Med 20, 855-866 (2018).
Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism. Cell 180, 568-584.e23 (2020).
Novel parent-of-origin-specific differentially methylated loci on chromosome 16. Clin Epigenetics 11, 60 (2019).
Accurate detection of complex structural variations using single-molecule sequencing. Nat Methods 15, 461-468 (2018).
Rapid, Paralog-Sensitive CNV Analysis of 2457 Human Genomes Using QuicK-mer2. Genes (Basel) 11, (2020).
Whole-genome sequencing of African Americans implicates differential genetic architecture in inflammatory bowel disease. Am J Hum Genet 108, 431-445 (2021).
Novel homozygous ENPP1 mutation causes generalized arterial calcifications of infancy, thrombocytopenia, and cardiovascular and central nervous system syndrome. Am J Med Genet A 179, 2112-2118 (2019).
Neurophysiological and Genetic Findings in Patients With Juvenile Myoclonic Epilepsy. Front Integr Neurosci 14, 45 (2020).
ANGPTL3 Deficiency and Protection Against Coronary Artery Disease. J Am Coll Cardiol 69, 2054-2063 (2017).
Emerging Targets for Cardiovascular Disease Prevention in Diabetes. Trends Mol Med 26, 744-757 (2020).
Human genetic insights into lipoproteins and risk of cardiometabolic disease. Curr Opin Lipidol 28, 113-119 (2017).