Publications
Blood Leukocyte DNA Methylation Predicts Risk of Future Myocardial Infarction and Coronary Heart Disease. Circulation. 2019 ;140(8):645-657.
. Blood metabolites predicting mild cognitive impairment in the study of Latinos-investigation of neurocognitive aging (HCHS/SOL). Alzheimers Dement (Amst). 2022 ;14(1):e12259.
. Blood pressure signature genes and blood pressure response to thiazide diuretics: results from the PEAR and PEAR-2 studies. BMC Med Genomics. 2018 ;11(1):55.
. Bos taurus genome assembly. BMC Genomics. 2009 ;10:180.
. Brain copy number variants and neuropsychiatric traits. Biol Psychiatry. 2012 ;72(8):617-9.
. Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individuals. Genet Med. 2023 ;25(1):90-102.
. Brain Tumor Epidemiology - A Hub within Multidisciplinary Neuro-oncology. Report on the 15th Brain Tumor Epidemiology Consortium (BTEC) Annual Meeting, Vienna, 2014. Clin Neuropathol. 2015 ;34(1):40-6.
. BRCA1/2 population screening: embracing the benefits. Curr Oncol. 2015 ;22(4):e230-1.
. Breast cancer chemoprevention pharmacogenomics: Deep sequencing and functional genomics of the and genes. NPJ Breast Cancer. 2017 ;3:30.
. Breast Cancer Detection with an Ensemble of Deep Learning Networks Using a Consensus-Adaptive Weighting Method. J Imaging. 2023 ;9(11).
. Broadening the phenotypic and molecular spectrum of FINCA syndrome: Biallelic NHLRC2 variants in 15 novel individuals. Eur J Hum Genet. 2023 ;31(8):905-917.
. Brown marmorated stink bug, Halyomorpha halys (Stål), genome: putative underpinnings of polyphagy, insecticide resistance potential and biology of a top worldwide pest. BMC Genomics. 2020 ;21(1):227.
. Building a comprehensive genomic program for hepatocellular carcinoma. World J Surg. 2011 ;35(8):1746-50.
. Butterfly genome reveals promiscuous exchange of mimicry adaptations among species. Nature. 2012 ;487(7405):94-8.
C. Thomas Caskey, M.D. (1938-2022): A remembrance. Am J Hum Genet. 2022 ;109(7):1185-1189.
. Calpain-10 is a component of the obesity-related quantitative trait locus Adip1. J Lipid Res. 2010 ;51(5):907-13.
. The Cancer Genome Atlas Pan-Cancer analysis project. Nat Genet. 2013 ;45(10):1113-20.
. The Candida albicans Histone Acetyltransferase Hat1 Regulates Stress Resistance and Virulence via Distinct Chromatin Assembly Pathways. PLoS Pathog. 2015 ;11(10):e1005218.
. Carbohydrate intake modifies associations between ANGPTL4[E40K] genotype and HDL-cholesterol concentrations in White men from the Atherosclerosis Risk in Communities (ARIC) study. Atherosclerosis. 2009 ;203(1):214-20.
. The CARD8 inflammasome dictates HIV/SIV pathogenesis and disease progression. Cell. 2024 ;187(5):1223-1237.e16.
. Carrier detection and prenatal diagnosis in Duchenne and Becker muscular dystrophy families, using dinucleotide repeat polymorphisms. Am J Hum Genet. 1991 ;49(5):951-60.
. A case report of two siblings with Alstrom syndrome without hearing loss associated with two new ALMS1 variants. BMC Ophthalmol. 2019 ;19(1):246.
. Case Report: p40 deficiency underlying pediatric-onset systemic lupus erythematosus. Front Pediatr. 2024 ;12:1425874.
. A catalog of reference genomes from the human microbiome. Science. 2010 ;328(5981):994-9.
. Cation leak through the ATP1A3 pump causes spasticity and intellectual disability. Brain. 2023 ;146(8):3162-3171.
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