Publications
Spontaneous Spongiform Brainstem Degeneration in a Young Mouse Lemur () with Conspicuous Behavioral, Motor, Growth, and Ocular Pathologies. Comp Med. 2018 ;68(6):489-495.
. Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function. Nat Commun. 2018 ;9(1):2098.
. Syndromic congenital myelofibrosis associated with a loss-of-function variant in . Blood. 2018 ;132(6):658-662.
. SYT1-associated neurodevelopmental disorder: a case series. Brain. 2018 ;141(9):2576-2591.
. SeqCNV: a novel method for identification of copy number variations in targeted next-generation sequencing data. BMC Bioinformatics. 2017 ;18(1):147.
. Seroprevalence of Zika Virus in Wild African Green Monkeys and Baboons. mSphere. 2017 ;2(2).
. SVachra: a tool to identify genomic structural variation in mate pair sequencing data containing inward and outward facing reads. BMC Genomics. 2017 ;18(Suppl 6):691.
. The SWI/SNF Protein PBRM1 Restrains VHL-Loss-Driven Clear Cell Renal Cell Carcinoma. Cell Rep. 2017 ;18(12):2893-2906.
. Single-cell isolation by a modular single-cell pipette for RNA-sequencing. Lab Chip. 2016 ;16(24):4742-4748.
. Somatic mosaicism underlies X-linked acrogigantism syndrome in sporadic male subjects. Endocr Relat Cancer. 2016 ;23(4):221-33.
. Sources of variation in hair cortisol in wild and captive non-human primates. Zoology (Jena). 2016 ;119(2):119-125.
. Structural and transcriptomic response to antenatal corticosteroids in an Erk3-null mouse model of respiratory distress. Am J Obstet Gynecol. 2016 ;215(3):384.e1-384.e89.
. SV-STAT accurately detects structural variation via alignment to reference-based assemblies. Source Code Biol Med. 2016 ;11:8.
. Secondary findings and carrier test frequencies in a large multiethnic sample. Genome Med. 2015 ;7(1):54.
. Sequence variation in telomerase reverse transcriptase (TERT) as a determinant of risk of cardiovascular disease: the Atherosclerosis Risk in Communities (ARIC) study. BMC Med Genet. 2015 ;16:52.
. Single stimulus fMRI produces a neural individual difference measure for Autism Spectrum Disorder. Clin Psychol Sci. 2015 ;3(3):422-432.
. Single-Molecule Sequencing Reveals Estrogen-Regulated Clinically Relevant lncRNAs in Breast Cancer. Mol Endocrinol. 2015 ;29(11):1634-45.
. Somatic mosaicism: implications for disease and transmission genetics. Trends Genet. 2015 ;31(7):382-92.
. Spata7 is a retinal ciliopathy gene critical for correct RPGRIP1 localization and protein trafficking in the retina. Hum Mol Genet. 2015 ;24(6):1584-601.
. Strategic transformation of population studies: recommendations of the working group on epidemiology and population sciences from the National Heart, Lung, and Blood Advisory Council and Board of External Experts. Am J Epidemiol. 2015 ;181(6):363-8.
. Structure and function of the healthy pre-adolescent pediatric gut microbiome. Microbiome. 2015 ;3:36.
. . . Sequence analysis of six blood pressure candidate regions in 4,178 individuals: the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) targeted sequencing study. PLoS One. 2014 ;9(10):e109155.
. Serum metabolomic profiling and incident CKD among African Americans. Clin J Am Soc Nephrol. 2014 ;9(8):1410-7.
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