Publications

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C Y Mak, A. et al. Whole-Genome Sequencing of Pharmacogenetic Drug Response in Racially Diverse Children with Asthma. Am J Respir Crit Care Med 197, 1552-1564 (2018).
Somineni, H. K. et al. Whole-genome sequencing of African Americans implicates differential genetic architecture in inflammatory bowel disease. Am J Hum Genet 108, 431-445 (2021).
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Rusu, V. et al. Type 2 Diabetes Variants Disrupt Function of SLC16A11 through Two Distinct Mechanisms. Cell 170, 199-212.e20 (2017).
Sajuthi, S. P. et al. 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
Sajuthi, S. P. et al. Type 2 and interferon inflammation regulate SARS-CoV-2 entry factor expression in the airway epithelium. Nat Commun 11, 5139 (2020).
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Collins, R. L. et al. A structural variation reference for medical and population genetics. Nature 581, 444-451 (2020).
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Orange, D. E. et al. RNA Identification of PRIME Cells Predicting Rheumatoid Arthritis Flares. N Engl J Med 383, 218-228 (2020).
Aldinger, K. A. et al. Redefining the Etiologic Landscape of Cerebellar Malformations. Am J Hum Genet 105, 606-615 (2019).
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Stefani, S. et al. Neurophysiological and Genetic Findings in Patients With Juvenile Myoclonic Epilepsy. Front Integr Neurosci 14, 45 (2020).
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Connaughton, D. M. et al. Monogenic causes of chronic kidney disease in adults. Kidney Int 95, 914-928 (2019).
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C Y Mak, A. et al. Lung Function in African American Children with Asthma Is Associated with Novel Regulatory Variants of the KIT Ligand and Gene-By-Air-Pollution Interaction. Genetics 215, 869-886 (2020).
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Posey, J. E. et al. Insights into genetics, human biology and disease gleaned from family based genomic studies. Genet Med 21, 798-812 (2019).
Oliva, M. et al. The impact of sex on gene expression across human tissues. Science 369, (2020).
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Hindy, G. et al. Genome-Wide Polygenic Score, Clinical Risk Factors, and Long-Term Trajectories of Coronary Artery Disease. Arterioscler Thromb Vasc Biol 40, 2738-2746 (2020).
Khera, A. V. et al. Genetic Risk, Adherence to a Healthy Lifestyle, and Coronary Disease. N Engl J Med 375, 2349-2358 (2016).
Rochtus, A. et al. Genetic diagnoses in epilepsy: The impact of dynamic exome analysis in a pediatric cohort. Epilepsia 61, 249-258 (2020).
Kasela, S. et al. Genetic and non-genetic factors affecting the expression of COVID-19-relevant genes in the large airway epithelium. Genome Med 13, 66 (2021).
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Lu, H. - C. et al. Disruption of the ATXN1-CIC complex causes a spectrum of neurobehavioral phenotypes in mice and humans. Nat Genet 49, 527-536 (2017).
Demanelis, K. et al. Determinants of telomere length across human tissues. Science 369, (2020).
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Biffi, A. et al. Combining Imaging and Genetics to Predict Recurrence of Anticoagulation-Associated Intracerebral Hemorrhage. Stroke 51, 2153-2160 (2020).
Kim-Hellmuth, S. et al. Cell type-specific genetic regulation of gene expression across human tissues. Science 369, (2020).
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Wenger, A. M. et al. Accurate circular consensus long-read sequencing improves variant detection and assembly of a human genome. Nat Biotechnol 37, 1155-1162 (2019).
Flex, E. et al. Aberrant Function of the C-Terminal Tail of HIST1H1E Accelerates Cellular Senescence and Causes Premature Aging. Am J Hum Genet 105, 493-508 (2019).