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Population sequencing data reveal a compendium of mutational processes in the human germ line. Science. 2021 ;373(6558):1030-1035.
. HFE H63D Polymorphism and the Risk for Systemic Hypertension, Myocardial Remodeling, and Adverse Cardiovascular Events in the ARIC Study. Hypertension. 2019 ;73(1):68-74.
. Apolipoprotein E Polymorphism, Cardiac Remodeling, and Heart Failure in the ARIC Study. J Card Fail. 2022 ;28(7):1128-1136.
. Whole genome sequence analysis of blood lipid levels in >66,000 individuals. Nat Commun. 2022 ;13(1):5995.
. Dicer-mediated upregulation of BCRP confers tamoxifen resistance in human breast cancer cells. Clin Cancer Res. 2011 ;17(20):6510-21.
. Complex mosaic structural variations in human fetal brains. Genome Res. 2020 ;30(12):1695-1704.
. An Promoter Polymorphism Associated With Elevated N-Terminal pro-B-Type Natriuretic Peptide and Lower Blood Pressure, Hypertension, and Mortality. J Am Heart Assoc. 2017 ;6(4).
. Genetic Variants in SGLT1, Glucose Tolerance, and Cardiometabolic Risk. J Am Coll Cardiol. 2018 ;72(15):1763-1773.
. Tools for annotation and comparison of structural variation. F1000Res. 2017 ;6:1795.
. Piercing the dark matter: bioinformatics of long-range sequencing and mapping. Nat Rev Genet. 2018 ;19(6):329-346.
. Accurate detection of complex structural variations using single-molecule sequencing. Nat Methods. 2018 ;15(6):461-468.
. NextGenMap: fast and accurate read mapping in highly polymorphic genomes. Bioinformatics. 2013 ;29(21):2790-1.
. Benefit-of-doubt (BOD) scoring: a sequencing-based method for SNP candidate assessment from high to medium read number data sets. Genomics. 2013 ;101(3):204-9.
. Allelic Mutations of KITLG, Encoding KIT Ligand, Cause Asymmetric and Unilateral Hearing Loss and Waardenburg Syndrome Type 2. Am J Hum Genet. 2015 ;97(5):647-60.
. The genome of the sea urchin Strongylocentrotus purpuratus. Science. 2006 ;314(5801):941-52.
. The genome of th17 cell-inducing segmented filamentous bacteria reveals extensive auxotrophy and adaptations to the intestinal environment. Cell Host Microbe. 2011 ;10(3):260-72.
. 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.
. Loader Lite: a new software tool for the ABI PRISM 3700 DNA sequencer. Biotechniques. 2002 ;32(6):1366, 1368, 1370-1.
. A genomic approach to therapeutic target validation identifies a glucose-lowering GLP1R variant protective for coronary heart disease. Sci Transl Med. 2016 ;8(341):341ra76.
. Congenital heart defects and left ventricular non-compaction in males with loss-of-function variants in NONO. J Med Genet. 2017 ;54(1):47-53.
. An Expanded Genome-Wide Association Study of Type 2 Diabetes in Europeans. Diabetes. 2017 ;66(11):2888-2902.
. Obtaining informed consent for clinical tumor and germline exome sequencing of newly diagnosed childhood cancer patients. Genome Med. 2014 ;6(9):69.
. Pediatric Cancer Genetics Research and an Evolving Preventive Ethics Approach for Return of Results after Death of the Subject. J Law Med Ethics. 2015 ;43(3):529-37.
. Clinical and molecular features of pediatric cancer patients with Lynch syndrome. Pediatr Blood Cancer. 2022 ;69(11):e29859.
. Aberrant TGF-beta production and regulation in metastatic malignancy. Growth Factors. 1990 ;3(2):115-27.
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