Center-Authored Papers

Filters: Author is Smith, Joshua D  [Clear All Filters]
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A
Carlson CS, Eberle MA, Rieder MJ, Smith JD, Kruglyak L, Nickerson DA.  2003.  Additional SNPs and linkage-disequilibrium analyses are necessary for whole-genome association studies in humans.. Nature genetics. 33(4):518-21. Abstract
Santos-Cortez RLP, Lee K, Giese AP, Ansar M, Amin-Ud-Din M, Rehn K, Wang X, Aziz A, Chiu I, Hussain Ali R et al..  2014.  Adenylate cyclase 1 (ADCY1) mutations cause recessive hearing impairment in humans and defects in hair cell function and hearing in zebrafish.. Human molecular genetics. Abstract
Rosenthal EA, Makaryan V, Burt AA, Crosslin DR, Kim DS, Smith JD, Nickerson DA, Reiner AP, Rich SS, Jackson RD et al..  2016.  Association Between Absolute Neutrophil Count and Variation at TCIRG1: The NHLBI Exome Sequencing Project.. Genetic epidemiology. Abstract
Naik RP, Derebail VK, Grams ME, Franceschini N, Auer PL, Peloso GM, Young BA, Lettre G, Peralta CA, Katz R et al..  2014.  Association of sickle cell trait with chronic kidney disease and albuminuria in African Americans.. JAMA. 312(20):2115-25. Abstract
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Rehman AU, Santos-Cortez RLP, Drummond MC, Shahzad M, Lee K, Morell RJ, Ansar M, Jan A, Wang X, Aziz A et al..  2014.  Challenges and solutions for gene identification in the presence of familial locus heterogeneity.. European journal of human genetics : EJHG. Abstract
Johnsen JM, Auer PL, Morrison AC, Jiao S, Wei P, Haessler J, Fox K, McGee SR, Smith JD, Carlson CS et al..  2013.  Common and rare von Willebrand factor (VWF) coding variants, von Willebrand factor levels, and factor VIII levels in African Americans.. Blood. 122(4):590-7. Abstract
D
Chong JX, McMillin MJ, Shively KM, Beck AE, Marvin CT, Armenteros JR, Buckingham KJ, Nkinsi NT, Boyle EA, Berry MN et al..  2015.  De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay.. American journal of human genetics. 96(3):462-73. Abstract
Carlson CS, Smith JD, Stanaway IB, Rieder MJ, Nickerson DA.  2006.  Direct detection of null alleles in SNP genotyping data.. Human molecular genetics. 15(12):1931-7. Abstract
Huyghe JR, Bien SA, Harrison TA, Kang HM, Chen S, Schmit SL, Conti DV, Qu C, Jeon J, Edlund CK et al..  2018.  Discovery of common and rare genetic risk variants for colorectal cancer.. Nature genetics. Abstract
E
Ansar M, Jan A, Santos-Cortez RLP, Wang X, Suliman M, Acharya A, Habib R, Abbe I, Ali G, Lee K et al..  2015.  Expansion of the spectrum of ITGB6-related disorders to adolescent alopecia, dentogingival abnormalities and intellectual disability.. European journal of human genetics : EJHG. Abstract
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Fuchsberger C, Flannick J, Teslovich TM, Mahajan A, Agarwala V, Gaulton KJ, Ma C, Fontanillas P, Moutsianas L, McCarthy DJ et al..  2016.  The genetic architecture of type 2 diabetes.. Nature. 536(7614):41-7. Abstract
Chong JX, Buckingham KJ, Jhangiani SN, Boehm C, Sobreira N, Smith JD, Harrell TM, McMillin MJ, Wiszniewski W, Gambin T et al..  2015.  The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities.. American journal of human genetics. Abstract
M
Ansar M, Santos-Cortez RLP, Saqib MAN, Zulfiqar F, Lee K, Ashraf NM, Ullah E, Wang X, Sajid S, Khan FS et al..  2015.  Mutation of ATF6 causes autosomal recessive achromatopsia.. Human genetics. Abstract
McMillin MJ, Beck AE, Chong JX, Shively KM, Buckingham KJ, Gildersleeve HIS, Aracena MI, Aylsworth AS, Bitoun P, Carey JC et al..  2014.  Mutations in PIEZO2 Cause Gordon Syndrome, Marden-Walker Syndrome, and Distal Arthrogryposis Type 5.. American journal of human genetics. Abstract
R
Santos-Cortez RLP, Chiong CM, Reyes-Quintos MRT, Tantoco MLC, Wang X, Acharya A, Abbe I, Giese AP, Smith JD, Allen KE et al..  2015.  Rare A2ML1 variants confer susceptibility to otitis media.. Nature genetics. Abstract
Kan M, Auer PL, Wang GT, Bucasas KL, Hooker S, Rodriguez A, Li B, Ellis J, Adrienne Cupples L, Chen Y-DI et al..  2016.  Rare variant associations with waist-to-hip ratio in European-American and African-American women from the NHLBI-Exome Sequencing Project.. European journal of human genetics : EJHG. 24(8):1181-1187. Abstract
O'Connor TD, Fu W, Mychaleckyj JC, Logsdon B, Auer P, Carlson CS, Leal SM, Smith JD, Rieder MJ, Bamshad MJ et al..  2015.  Rare variation facilitates inferences of fine-scale population structure in humans.. Molecular biology and evolution. 32(3):653-60. Abstract
He Z, O'Roak BJ, Smith JD, Wang G, Hooker S, Santos-Cortez RLP, Li B, Kan M, Krumm N, Nickerson DA et al..  2014.  Rare-variant extensions of the transmission disequilibrium test: application to autism exome sequence data.. American journal of human genetics. 94(1):33-46. Abstract
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Lange LA, Hu Y, Zhang H, Xue C, Schmidt EM, Tang Z-Z, Bizon C, Lange EM, Smith JD, Turner EH et al..  2014.  Whole-Exome Sequencing Identifies Rare and Low-Frequency Coding Variants Associated with LDL Cholesterol.. American journal of human genetics. 94(2):233-45. Abstract