Publications
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Insights into genetics, human biology and disease gleaned from family based genomic studies. Genet Med 21, 798-812 (2019).
Insights into genetics, human biology and disease gleaned from family based genomic studies. Genet Med 21, 798-812 (2019).
Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism. Cell 180, 568-584.e23 (2020).
Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism. Cell 180, 568-584.e23 (2020).
Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism. Cell 180, 568-584.e23 (2020).
Major Impacts of Widespread Structural Variation on Gene Expression and Crop Improvement in Tomato. Cell 182, 145-161.e23 (2020).
Major Impacts of Widespread Structural Variation on Gene Expression and Crop Improvement in Tomato. Cell 182, 145-161.e23 (2020).
Major Impacts of Widespread Structural Variation on Gene Expression and Crop Improvement in Tomato. Cell 182, 145-161.e23 (2020).
Mapping and characterization of structural variation in 17,795 human genomes. Nature 583, 83-89 (2020).
A missense variant in Mitochondrial Amidoxime Reducing Component 1 gene and protection against liver disease. PLoS Genet 16, e1008629 (2020).
A missense variant in Mitochondrial Amidoxime Reducing Component 1 gene and protection against liver disease. PLoS Genet 16, e1008629 (2020).
Modified penetrance of coding variants by cis-regulatory variation contributes to disease risk. Nat Genet 50, 1327-1334 (2018).
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).
Optimized sample selection for cost-efficient long-read population sequencing. Genome Res 31, 910-918 (2021).
Pathogenic Abnormal Splicing Due to Intronic Deletions that Induce Biophysical Space Constraint for Spliceosome Assembly. Am J Hum Genet 105, 573-587 (2019).
Phenotypic expansion in KIF1A-related dominant disorders: A description of novel variants and review of published cases. Hum Mutat 41, 2094-2104 (2020).
Phylogenetic history of patrilineages rare in northern and eastern Europe from large-scale re-sequencing of human Y-chromosomes. Eur J Hum Genet (2021). doi:10.1038/s41431-021-00897-8
Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation. N Engl J Med 376, 21-31 (2017).
SVEP1 is a human coronary artery disease locus that promotes atherosclerosis. Sci Transl Med 13, (2021).
Titin Truncating Variants in Adults Without Known Congestive Heart Failure. J Am Coll Cardiol 75, 1239-1241 (2020).
Transcriptomic signatures across human tissues identify functional rare genetic variation. Science 369, (2020).
Transcriptomic signatures across human tissues identify functional rare genetic variation. Science 369, (2020).
Transcriptomic signatures across human tissues identify functional rare genetic variation. Science 369, (2020).
Transcriptomic signatures across human tissues identify functional rare genetic variation. Science 369, (2020).
Transethnic Transferability of a Genome-Wide Polygenic Score for Coronary Artery Disease. Circ Genom Precis Med 14, e003092 (2021).
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
Type 2 Diabetes Variants Disrupt Function of SLC16A11 through Two Distinct Mechanisms. Cell 170, 199-212.e20 (2017).
Validation of a Genome-Wide Polygenic Score for Coronary Artery Disease in South Asians. J Am Coll Cardiol 76, 703-714 (2020).
Validation of a Genome-Wide Polygenic Score for Coronary Artery Disease in South Asians. J Am Coll Cardiol 76, 703-714 (2020).
Validation of a Genome-Wide Polygenic Score for Coronary Artery Disease in South Asians. J Am Coll Cardiol 76, 703-714 (2020).
Whole-genome sequencing of African Americans implicates differential genetic architecture in inflammatory bowel disease. Am J Hum Genet 108, 431-445 (2021).