Publications
ARBoR: an identity and security solution for clinical reporting. J Am Med Inform Assoc. 2019 ;26(11):1370-1374.
. Neptune: an environment for the delivery of genomic medicine. Genet Med. 2021 ;23(10):1838-1846.
. Generating Clinical Reports from Genomic Data on the Cloud-based Neptune Platform [Internet]. Phoenix: ACMG Annual Clinical Genetics Meeting 2017; 2017. http://epostersonline.com/acmg2017/node/2480
. From genes to genomes in the clinic. Genome Med. 2015 ;7(1):78.
. Prospective virome analyses in young children at increased genetic risk for type 1 diabetes. Nat Med. 2019 ;25(12):1865-1872.
. Evidence for replicative mechanism in a CHD7 rearrangement in a patient with CHARGE syndrome. Am J Med Genet A. 2013 ;161A(12):3182-6.
. FOXO1 is required for binding of PR on IRF4, novel transcriptional regulator of endometrial stromal decidualization. Mol Endocrinol. 2015 ;29(3):421-33.
. Primate phylogenomics uncovers multiple rapid radiations and ancient interspecific introgression. PLoS Biol. 2020 ;18(12):e3000954.
. Fine mapping the region reveals a common intronic insertion associated to HDL-C. NPJ Aging Mech Dis. 2015 ;1:15011.
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Pharmacogenetics of response to statins: where do we stand?. Curr Atheroscler Rep. 2005 ;7(3):204-8.
. A multilocus approach to the antihypertensive pharmacogenetics of hydrochlorothiazide. Pharmacogenet Genomics. 2005 ;15(5):287-93.
. Demographic, environmental, and genetic predictors of metabolic side effects of hydrochlorothiazide treatment in hypertensive subjects. Am J Hypertens. 2005 ;18(8):1077-83.
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PLD3 variants in population studies. Nature. 2015 ;520(7545):E2-3.
. Destabilized SMC5/6 complex leads to chromosome breakage syndrome with severe lung disease. J Clin Invest. 2016 ;126(8):2881-92.
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Low frequency of MLL3 mutations in colorectal carcinoma. Cancer Genet Cytogenet. 2009 ;189(2):140-1.
. Prevalence of Rhabdomyosarcoma in the U.S. from 2017-2018: A SEER study. J Natl Med Assoc. 2023 ;115(4):403-404.
. Association of the T-cell regulatory gene CTLA4 with susceptibility to autoimmune disease. Nature. 2003 ;423(6939):506-11.
. Clonal hematopoiesis of indeterminate potential, DNA methylation, and risk for coronary artery disease. Nat Commun. 2022 ;13(1):5350.
. What everybody should know about the rat genome and its online resources. Nat Genet. 2008 ;40(5):523-7.
. Haplotype structure, LD blocks, and uneven recombination within the LRP5 gene. Genome Res. 2003 ;13(5):845-55.
. Phenotypic Expansion of Congenital Disorder of Glycosylation Due to SRD5A3 Null Mutation. JIMD Rep. 2016 ;26:7-12.
. Ancestral Admixture Is the Main Determinant of Global Biodiversity in Fission Yeast. Mol Biol Evol. 2019 ;36(9):1975-1989.
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