Publications
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Mapping a locus for familial thoracic aortic aneurysms and dissections (TAAD2) to 3p24-25. Circulation. 2003 ;107(25):3184-90.
. Loader Lite: a new software tool for the ABI PRISM 3700 DNA sequencer. Biotechniques. 2002 ;32(6):1366, 1368, 1370-1.
. Initial sequencing and analysis of the human genome. Nature. 2001 ;409(6822):860-921.
. . A High-throughput Approach to Identify Effective Systemic Agents for the Treatment of Anaplastic Thyroid Carcinoma. J Clin Endocrinol Metab. 2021 ;106(10):2962-2978.
. A high-resolution map of human chromosome 12. Nature. 2001 ;409(6822):945-6.
. Genomic analysis of two phlebotomine sand fly vectors of Leishmania from the New and Old World. PLoS Negl Trop Dis. 2023 ;17(4):e0010862.
. The genomes of two key bumblebee species with primitive eusocial organization. Genome Biol. 2015 ;16(1):76.
. The genome sequence of Drosophila melanogaster. Science. 2000 ;287(5461):2185-95.
. The genome of the model beetle and pest Tribolium castaneum. Nature. 2008 ;452(7190):949-55.
. Genetic Variants Influencing Plasma Renin Activity in Hypertensive Patients From the PEAR Study (Pharmacogenomic Evaluation of Antihypertensive Responses). Circ Genom Precis Med. 2018 ;11(4):e001854.
. Genetic testing, biotechnology, and GMOs: A snapshot of public opinion, 2003 through 2004. Genet Med. 2005 ;7(6):454-5.
. The genetic structure of mouse ornithine transcarbamylase. Nucleic Acids Res. 1988 ;16(4):1593-601.
. . Forerunner genes contiguous to RB1 contribute to the development of in situ neoplasia. Proc Natl Acad Sci U S A. 2007 ;104(34):13732-7.
. The first myriapod genome sequence reveals conservative arthropod gene content and genome organisation in the centipede Strigamia maritima. PLoS Biol. 2014 ;12(11):e1002005.
. Finishing a whole-genome shotgun: release 3 of the Drosophila melanogaster euchromatic genome sequence. Genome Biol. 2002 ;3(12):RESEARCH0079.
. The finished DNA sequence of human chromosome 12. Nature. 2006 ;440(7082):346-51.
. Expression and regulation of kainate and AMPA receptors in the rat neural tube. J Neurosci Res. 1998 ;52(3):356-68.
. Evidence for alternative candidate genes near RB1 involved in clonal expansion of in situ urothelial neoplasia. Lab Invest. 2006 ;86(2):175-90.
. The ethics of conducting molecular autopsies in cases of sudden death in the young. Genome Res. 2016 ;26(9):1165-9.
. An efficient genotyper and star-allele caller for pharmacogenomics. Genome Res. 2023 ;33(1):61-70.
. The DNA sequence, annotation and analysis of human chromosome 3. Nature. 2006 ;440(7088):1194-8.
. Desmosomal dysfunction due to mutations in desmoplakin causes arrhythmogenic right ventricular dysplasia/cardiomyopathy. Circ Res. 2006 ;99(6):646-55.
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