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Publications

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Adolescent
Levodopa-responsive aromatic L-amino acid decarboxylase deficiency., Chang, Yuh Terng, Sharma Radhakant, Marsh Lawrence J., McPherson John D., Bedell Joey A., Knust Andreas, Bräutigam Christa, Hoffmann Georg F., and Hyland Keith , Annals of neurology, 2004 Mar, Volume 55, Issue 3, p.435-8, (2004) Abstract
Parental history of stroke and myocardial infarction predicts coronary artery calcification: The Coronary Artery Risk Development in Young Adults (CARDIA) study., Fornage, Myriam, Lopez David S., Roseman Jeffrey M., Siscovick David S., Wong Nathan D., and Boerwinkle Eric , European journal of cardiovascular prevention and rehabilitation : official journal of the European Society of Cardiology, Working Groups on Epidemiology & Prevention and Cardiac Rehabilitation and Exercise Physiology, 2004 Oct, Volume 11, Issue 5, p.421-6, (2004) Abstract
Deep resequencing and association analysis of schizophrenia candidate genes., Crowley, J. J., Hilliard C. E., Kim Y., Morgan M. B., Lewis L. R., Muzny D. M., Hawes A. C., Sabo A., Wheeler D. A., Lieberman J. A., et al. , Molecular psychiatry, 2013 Feb, Volume 18, Issue 2, p.138-40, (2013)
Oligogenic heterozygosity in individuals with high-functioning autism spectrum disorders., Schaaf, Christian P., Sabo Aniko, Sakai Yasunari, Crosby Jacy, Muzny Donna, Hawes Alicia, Lewis Lora, Akbar Humeira, Varghese Robin, Boerwinkle Eric, et al. , Human molecular genetics, 2011 Sep 1, Volume 20, Issue 17, p.3366-75, (2011) Abstract
Whole exome sequencing identifies three novel mutations in ANTXR1 in families with GAPO syndrome., Bayram, Yavuz, Pehlivan Davut, Karaca Ender, Gambin Tomasz, Jhangiani Shalini N., Erdin Serkan, Gonzaga-Jauregui Claudia, Wiszniewski Wojciech, Muzny Donna, Elcioglu Nursel H., et al. , American journal of medical genetics. Part A, 2014 Sep, Volume 164A, Issue 9, p.2328-34, (2014) Abstract
Genetic testing, biotechnology, and GMOs: A snapshot of public opinion, 2003 through 2004., Alford, Raye L., Morris Kelley E., Rives Michelle C., Scherer Steven E., Weinstock George, Gibbs Richard A., Ghonima Karim, Belcher Mark, Valdes Hayden, Sumners Carolyn, et al. , Genetics in medicine : official journal of the American College of Medical Genetics, 2005 Jul-Aug, Volume 7, Issue 6, p.454-5, (2005)
Subtle genetic changes enhance virulence of methicillin resistant and sensitive Staphylococcus aureus., Highlander, Sarah K., Hultén Kristina G., Qin Xiang, Jiang Huaiyang, Yerrapragada Shailaja, Mason Edward O., Shang Yue, Williams Tiffany M., Fortunov Régine M., Liu Yamei, et al. , BMC microbiology, 2007, Volume 7, p.99, (2007) Abstract
Longitudinal analysis of haplotypes and polymorphisms of the APOA5 and APOC3 genes associated with variation in serum triglyceride levels: the Bogalusa Heart Study., Hallman, Michael D., Srinivasan Sathanur R., Chen Wei, Boerwinkle Eric, and Berenson Gerald S. , Metabolism: clinical and experimental, 2006 Dec, Volume 55, Issue 12, p.1574-81, (2006) Abstract
Residual plasmatic activity of ADAMTS13 is correlated with phenotype severity in congenital thrombotic thrombocytopenic purpura., Lotta, Luca A., Wu Haifeng M., Mackie Ian J., Noris Marina, Veyradier Agnes, Scully Marie A., Remuzzi Giuseppe, Coppo Paul, Liesner Ri, Donadelli Roberta, et al. , Blood, 2012 Jul 12, Volume 120, Issue 2, p.440-8, (2012) Abstract
Adolescent Health Services
Collaborative social and medical service application., Petermann, C. A., Buffone G. J., Bobroff R. B., Moore D. M., Dargahi R., Moreau D. R., Gilson H. S., Li Y., Fowler J., and Beck J. R. , Medinfo. MEDINFO, 1995, Volume 8 Pt 2, p.1671, (1995) Abstract
Collaborative Social and Medical Service System., Petermann, C. A., Bobroff R. B., Moore D. M., Gilson H. S., Li Y., Dargahi R., Classen D. W., Fowler J., Moreau D. R., and Beck J. R. , Proceedings / the ... Annual Symposium on Computer Application [sic] in Medical Care. Symposium on Computer Applications in Medical Care, 1994, p.614-8, (1994) Abstract
Adrenal Cortex
Zebrafish dax1 is required for development of the interrenal organ, the adrenal cortex equivalent., Zhao, Y., Yang Z., Phelan J. K., Wheeler D. A., Lin S., and McCabe E. R. B. , Molecular endocrinology (Baltimore, Md.), 2006 Nov, Volume 20, Issue 11, p.2630-40, (2006) Abstract
Adrenal Insufficiency
Yeast artificial chromosome cloning in the glycerol kinase and adrenal hypoplasia congenita region of Xp21., Worley, K. C., Ellison K. A., Zhang Y. H., Wang D. F., Mason J., Roth E. J., Adams V., Fogt D. D., Zhu X. M., and Towbin J. A. , Genomics, 1993 May, Volume 16, Issue 2, p.407-16, (1993) Abstract
Adrenocorticotropic Hormone
[Results of treatment of flexion spasms in children]., Popielarska, A., Gregorczuk J., Suffczyńska-Kotowska M., and Mazurowa M. , Neurologia i neurochirurgia polska, 1971, Volume 5, Issue 3, p.387-91, (1971)
Adult
Association of low-frequency and rare coding-sequence variants with blood lipids and coronary heart disease in 56,000 whites and blacks., Peloso, Gina M., Auer Paul L., Bis Joshua C., Voorman Arend, Morrison Alanna C., Stitziel Nathan O., Brody Jennifer A., Khetarpal Sumeet A., Crosby Jacy R., Fornage Myriam, et al. , American journal of human genetics, 2014 Feb 6, Volume 94, Issue 2, p.223-32, (2014) Abstract
Structure, function and diversity of the healthy human microbiome., , Nature, 2012 Jun 14, Volume 486, Issue 7402, p.207-14, (2012) Abstract
Familial thoracic aortic aneurysms and dissections: identification of a novel locus for stable aneurysms with a low risk for progression to aortic dissection., Guo, Dong-Chuan, Regalado Ellen S., Minn Charles, Tran-Fadulu Van, Coney Joshua, Cao Jiumei, Wang Min, Yu Robert K., Estrera Anthony L., Safi Hazim J., et al. , Circulation. Cardiovascular genetics, 2011 Feb, Volume 4, Issue 1, p.36-42, (2011) Abstract
ESR1 polymorphism is associated with plasma lipid and apolipoprotein levels in Caucasians of the Rochester Family Heart Study., Klos, Kathy L. E., Boerwinkle Eric, Ferrell Robert E., Turner Stephen T., and Morrison Alanna C. , Journal of lipid research, 2008 Aug, Volume 49, Issue 8, p.1701-6, (2008) Abstract
PNPLA3 polymorphisms and liver aminotransferase levels in a Mexican American population., Li, Quan, Qu Hui-Qi, Rentfro Anne R., Grove Megan L., Mirza Shaper, Lu Yang, Hanis Craig L., Fallon Michael B., Boerwinkle Eric, Fisher-Hoch Susan P., et al. , Clinical and investigative medicine. Médecine clinique et experimentale, 2012, Volume 35, Issue 4, p.E237-45, (2012) Abstract
An overview of industrial accidents with particular reference to facial trauma., Shalhoub, S. Y. , Australian dental journal, 1991 Dec, Volume 36, Issue 6, p.445-50, (1991) Abstract
Comprehensive Molecular Diagnosis of a Large Chinese Leber Congenital Amaurosis Cohort., Wang, Hui, Wang Xia, Zou Xuan, Xu Shan, Li Hui, Soens Zachry Tore, Wang Keqing, Li Yumei, Dong Fangtian, Chen Rui, et al. , Investigative ophthalmology & visual science, 2015 Jun, Volume 56, Issue 6, p.3642-55, (2015) Abstract
AluY insertion (IVS4-52ins316alu) in the glycerol kinase gene from an individual with benign glycerol kinase deficiency., Zhang, Y., Dipple K. M., Vilain E., Huang B. L., Finlayson G., Therrell B. L., Worley K., Deininger P., and McCabe E. R. , Human mutation, 2000, Volume 15, Issue 4, p.316-23, (2000) Abstract
Genetic linkage and imprinting effects on body mass index in children and young adults., Gorlova, Olga Y., Amos Christopher I., Wang Nancy W., Shete Sanjay, Turner Stephen T., and Boerwinkle Eric , European journal of human genetics : EJHG, 2003 Jun, Volume 11, Issue 6, p.425-32, (2003) Abstract
MYH11 mutations result in a distinct vascular pathology driven by insulin-like growth factor 1 and angiotensin II., Pannu, Hariyadarshi, Tran-Fadulu Van, Papke Christina L., Scherer Steve, Liu Yaozhong, Presley Caroline, Guo Dongchuan, Estrera Anthony L., Safi Hazim J., Brasier Allan R., et al. , Human molecular genetics, 2007 Oct 15, Volume 16, Issue 20, p.2453-62, (2007) Abstract


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