Publications
Exome variant discrepancies due to reference-genome differences. Am J Hum Genet. 2021 ;108(7):1239-1250.
. Efficient gene-environment interaction tests for large biobank-scale sequencing studies. Genet Epidemiol. 2020 ;44(8):908-923.
. Epigenetic Age Acceleration and Cognitive Function in African American Adults in Midlife: The Atherosclerosis Risk in Communities Study. J Gerontol A Biol Sci Med Sci. 2020 ;75(3):473-480.
. Evaluation of mitochondrial DNA copy number estimation techniques. PLoS One. 2020 ;15(1):e0228166.
. Exome sequencing reveals a novel variant in causing intracranial aneurysm in a Chinese family. J Neurointerv Surg. 2020 ;12(2):221-226.
. . Efficient Variant Set Mixed Model Association Tests for Continuous and Binary Traits in Large-Scale Whole-Genome Sequencing Studies. Am J Hum Genet. 2019 ;104(2):260-274.
. Evaluation of computational genotyping of structural variation for clinical diagnoses. Gigascience. 2019 ;8(9).
. Evaluation of the detection of GBA missense mutations and other variants using the Oxford Nanopore MinION. Mol Genet Genomic Med. 2019 ;7(3):e564.
. Evolution of DNA Methylation in Papio Baboons. Mol Biol Evol. 2019 ;36(3):527-540.
. Exome sequencing of 20,791 cases of type 2 diabetes and 24,440 controls. Nature. 2019 ;570(7759):71-76.
. Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes. NPJ Genom Med. 2019 ;4:19.
. Exome Sequencing of a Primary Ovarian Insufficiency Cohort Reveals Common Molecular Etiologies for a Spectrum of Disease. J Clin Endocrinol Metab. 2019 ;104(8):3049-3067.
. Earth BioGenome Project: Sequencing life for the future of life. Proc Natl Acad Sci U S A. 2018 ;115(17):4325-4333.
. Editorial overview: Insect genomics: Arthropod genomic resources for the 21st century: It only counts if it's in the database!. Curr Opin Insect Sci. 2018 ;25:iv-vii.
. Effects of Gender-Specific Differences, Inflammatory Response, and Genetic Variation on the Associations Among Depressive Symptoms and the Risk of Major Adverse Coronary Events in Patients With Acute Coronary Syndrome. Biol Res Nurs. 2018 ;20(2):168-176.
. Elucidating the molecular pathogenesis of glioma: integrated germline and somatic profiling of a familial glioma case series. Neuro Oncol. 2018 ;20(12):1625-1633.
. Empowering genomic medicine by establishing critical sequencing result data flows: the eMERGE example. J Am Med Inform Assoc. 2018 ;25(10):1375-1381.
. An Epigenome-Wide Association Study of Obesity-Related Traits. Am J Epidemiol. 2018 ;187(8):1662-1669.
. Expansions of key protein families in the German cockroach highlight the molecular basis of its remarkable success as a global indoor pest. J Exp Zool B Mol Dev Evol. 2018 ;330(5):254-264.
. Enrichment of mutations in chromatin regulators in people with Rett syndrome lacking mutations in MECP2. Genet Med. 2017 ;19(1):13-19.
. Erratum to: Genomic innovations, transcriptional plasticity and gene loss underlying the evolution and divergence of two highly polyphagous and invasive Helicoverpa pest species. BMC Biol. 2017 ;15(1):69.
. Erratum to: Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features. Hum Genet. 2017 ;136(8):1009-1011.
. Erratum to: The whole genome sequence of the Mediterranean fruit fly, Ceratitis capitata (Wiedemann), reveals insights into the biology and adaptive evolution of a highly invasive pest species. Genome Biol. 2017 ;18(1):11.
. Evolutionary History of Chemosensory-Related Gene Families across the Arthropoda. Mol Biol Evol. 2017 ;34(8):1838-1862.
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