Publications
Filters: Keyword is Cohort Studies [Clear All Filters]
Identification of novel fusion transcripts in meningioma. J Neurooncol. 2020 ;149(2):219-230.
. Impact of Rare and Common Genetic Variants on Diabetes Diagnosis by Hemoglobin A1c in Multi-Ancestry Cohorts: The Trans-Omics for Precision Medicine Program. Am J Hum Genet. 2019 ;105(4):706-718.
. The INSIG2 rs7566605 genetic variant does not play a major role in obesity in a sample of 24,722 individuals from four cohorts. BMC Med Genet. 2009 ;10:56.
. Interaction of folate intake and the paraoxonase Q192R polymorphism with risk of incident coronary heart disease and ischemic stroke: the atherosclerosis risk in communities study. Ann Epidemiol. 2011 ;21(11):815-23.
. Investigating the disease association of USH2A p.C759F variant by leveraging large retinitis pigmentosa cohort data. Ophthalmic Genet. 2018 ;39(2):291-292.
. Metabolomic patterns and alcohol consumption in African Americans in the Atherosclerosis Risk in Communities Study. Am J Clin Nutr. 2014 ;99(6):1470-8.
. Methylome-wide association study of central adiposity implicates genes involved in immune and endocrine systems. Epigenomics. 2020 ;12(17):1483-1499.
. Next Generation Sequencing of 134 Children with Autism Spectrum Disorder and Regression. Genes (Basel). 2020 ;11(8).
. Next-generation sequencing and novel variant determination in a cohort of 92 familial exudative vitreoretinopathy patients. Invest Ophthalmol Vis Sci. 2015 ;56(3):1937-46.
. Next-generation sequencing-based molecular diagnosis of a Chinese patient cohort with autosomal recessive retinitis pigmentosa. Invest Ophthalmol Vis Sci. 2013 ;54(6):4158-66.
. NGS-based Molecular diagnosis of 105 eyeGENE(®) probands with Retinitis Pigmentosa. Sci Rep. 2015 ;5:18287.
. Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries. PLoS One. 2018 ;13(6):e0198166.
. A pediatric brain tumor atlas of genes deregulated by somatic genomic rearrangement. Nat Commun. 2021 ;12(1):937.
. Persistent human herpesvirus-6 infection in patients with an inherited form of the virus. J Med Virol. 2013 ;85(11):1940-6.
. Population-based resequencing of ANGPTL4 uncovers variations that reduce triglycerides and increase HDL. Nat Genet. 2007 ;39(4):513-6.
. Possible race and gender divergence in association of genetic variations with plasma von Willebrand factor: a study of ARIC and 1000 genome cohorts. PLoS One. 2014 ;9(1):e84810.
. Proteins Associated with Risk of Kidney Function Decline in the General Population. J Am Soc Nephrol. 2021 ;32(9):2291-2302.
. Rare and low-frequency variants and their association with plasma levels of fibrinogen, FVII, FVIII, and vWF. Blood. 2015 ;126(11):e19-29.
. The Return of Actionable Variants Empirical (RAVE) Study, a Mayo Clinic Genomic Medicine Implementation Study: Design and Initial Results. Mayo Clin Proc. 2018 ;93(11):1600-1610.
. Rho Guanine Nucleotide Exchange Factor Is a Risk Gene for Intracranial Aneurysms. Circ Genom Precis Med. 2018 ;11(7):e002099.
. 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.
. Sequence variations in PCSK9, low LDL, and protection against coronary heart disease. N Engl J Med. 2006 ;354(12):1264-72.
. SPARK: A US Cohort of 50,000 Families to Accelerate Autism Research. Neuron. 2018 ;97(3):488-493.
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