Deborah A. Nickerson - Publications

Affiliations: 
University of Washington, Seattle, Seattle, WA 
Area:
Biomedical Engineering, Molecular Biology

199 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any inaccuracies, please sign in and mark papers as correct or incorrect matches. If you identify any major omissions or other inaccuracies in the publication list, please let us know.

Year Citation  Score
2016 Duran I, Taylor SP, Zhang W, Martin J, Forlenza KN, Spiro RP, Nickerson DA, Bamshad M, Cohn DH, Krakow D. Destabilization of the IFT-B cilia core complex due to mutations in IFT81 causes a Spectrum of Short-Rib Polydactyly Syndrome. Scientific Reports. 6: 34232. PMID 27666822 DOI: 10.1038/srep34232  0.32
2016 Auer PL, Reiner AP, Wang G, Kang HM, Abecasis GR, Altshuler D, Bamshad MJ, Nickerson DA, Tracy RP, Rich SS, Leal SM. Guidelines for Large-Scale Sequence-Based Complex Trait Association Studies: Lessons Learned from the NHLBI Exome Sequencing Project. American Journal of Human Genetics. PMID 27666372 DOI: 10.1016/j.ajhg.2016.08.012  0.32
2016 Postmus I, Warren HR, Trompet S, Arsenault BJ, Avery CL, Bis JC, Chasman DI, de Keyser CE, Deshmukh HA, Evans DS, Feng Q, Li X, Smit RA, Smith AV, Sun F, ... ... Nickerson DA, et al. Meta-analysis of genome-wide association studies of HDL cholesterol response to statins. Journal of Medical Genetics. PMID 27587472 DOI: 10.1136/jmedgenet-2016-103966  0.32
2016 McCarthy S, Das S, Kretzschmar W, Delaneau O, Wood AR, Teumer A, Kang HM, Fuchsberger C, Danecek P, Sharp K, Luo Y, Sidore C, Kwong A, Timpson N, Koskinen S, ... ... Nickerson D, et al. A reference panel of 64,976 haplotypes for genotype imputation. Nature Genetics. PMID 27548312 DOI: 10.1038/ng.3643  0.32
2016 Wheeler PG, Ng BG, Sanford L, Sutton VR, Bartholomew DW, Pastore MT, Bamshad MJ, Kircher M, Buckingham KJ, Nickerson DA, Shendure J, Freeze HH. SRD5A3-CDG: Expanding the phenotype of a congenital disorder of glycosylation with emphasis on adult onset features. American Journal of Medical Genetics. Part A. PMID 27480077 DOI: 10.1002/ajmg.a.37875  0.32
2016 Du M, Jiao S, Bien SA, Gala M, Abecasis G, Bezieau S, Brenner H, Butterbach K, Caan BJ, Carlson CS, Casey G, Chang-Claude J, Conti DV, Curtis KR, Duggan D, ... ... Nickerson DA, et al. Fine-Mapping of Common Genetic Variants Associated with Colorectal Tumor Risk Identified Potential Functional Variants. Plos One. 11: e0157521. PMID 27379672 DOI: 10.1371/journal.pone.0157521  0.32
2016 Staples J, Witherspoon DJ, Jorde LB, Nickerson DA, Below JE, Huff CD. PADRE: Pedigree-Aware Distant-Relationship Estimation. American Journal of Human Genetics. PMID 27374771 DOI: 10.1016/j.ajhg.2016.05.020  0.32
2016 Tajuddin SM, Schick UM, Eicher JD, Chami N, Giri A, Brody JA, Hill WD, Kacprowski T, Li J, Lyytikäinen LP, Manichaikul A, Mihailov E, O'Donoghue ML, Pankratz N, Pazoki R, ... ... Nickerson DA, et al. Large-Scale Exome-wide Association Analysis Identifies Loci for White Blood Cell Traits and Pleiotropy with Immune-Mediated Diseases. American Journal of Human Genetics. PMID 27346689 DOI: 10.1016/j.ajhg.2016.05.003  0.32
2016 Chami N, Chen MH, Slater AJ, Eicher JD, Evangelou E, Tajuddin SM, Love-Gregory L, Kacprowski T, Schick UM, Nomura A, Giri A, Lessard S, Brody JA, Schurmann C, Pankratz N, ... ... Nickerson DA, et al. Exome Genotyping Identifies Pleiotropic Variants Associated with Red Blood Cell Traits. American Journal of Human Genetics. PMID 27346685 DOI: 10.1016/j.ajhg.2016.05.007  0.32
2016 Chen DH, Below JE, Shimamura A, Keel SB, Matsushita M, Wolff J, Sul Y, Bonkowski E, Castella M, Taniguchi T, Nickerson D, Papayannopoulou T, Bird TD, Raskind WH. Ataxia-Pancytopenia Syndrome Is Caused by Missense Mutations in SAMD9L. American Journal of Human Genetics. 98: 1146-1158. PMID 27259050 DOI: 10.1016/j.ajhg.2016.04.009  0.32
2016 Green RC, Goddard KA, Jarvik GP, Amendola LM, Appelbaum PS, Berg JS, Bernhardt BA, Biesecker LG, Biswas S, Blout CL, Bowling KM, Brothers KB, Burke W, Caga-Anan CF, Chinnaiyan AM, ... ... Nickerson DA, et al. Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine. American Journal of Human Genetics. PMID 27181682 DOI: 10.1016/j.ajhg.2016.04.011  0.32
2016 Ng BG, Shiryaev SA, Rymen D, Eklund EA, Raymond K, Kircher M, Abdenur JE, Alehan F, Midro AT, Bamshad MJ, Barone R, Berry GT, Brumbaugh JE, Buckingham KJ, Clarkson K, ... ... Nickerson DA, et al. ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients. Human Mutation. PMID 26931382 DOI: 10.1002/humu.22983  0.32
2016 Shah K, Ali RH, Ansar M, Lee K, Chishti MS, Abbe I, Li B, Smith JD, Nickerson DA, Shendure J, Coucke PJ, Steyaert W, Bamshad MJ, Santos-Cortez RL, et al. Mitral regurgitation as a phenotypic manifestation of nonphotosensitive trichothiodystrophy due to a splice variant in MPLKIP. Bmc Medical Genetics. 17: 13. PMID 26880286 DOI: 10.1186/s12881-016-0275-5  0.32
2016 Santos-Cortez RL, Faridi R, Rehman AU, Lee K, Ansar M, Wang X, Morell RJ, Isaacson R, Belyantseva IA, Dai H, Acharya A, Qaiser TA, Muhammad D, Ali RA, Shams S, ... ... Nickerson DA, et al. Autosomal-Recessive Hearing Impairment due to Rare Missense Variants within S1PR2. American Journal of Human Genetics. PMID 26805784 DOI: 10.1016/j.ajhg.2015.12.004  0.32
2016 Wallace S, Guo DC, Regalado E, Mellor-Crummey L, Banshad M, Nickerson DA, Dauser R, Hanchard N, Marom R, Martin E, Berka V, Sharina I, Ganesan V, Saunders D, Morris S, et al. Disrupted Nitric Oxide Signaling due to GUCY1A3 Mutations Increases Risk for Moyamoya Disease, Achalasia and Hypertension. Clinical Genetics. PMID 26777256 DOI: 10.1111/cge.12739  0.32
2016 Guo Dc, Regalado ES, Gong L, Duan X, Santos-Cortez RLP, Arnaud P, Ren Z, Cai B, Hostetler EM, Moran R, Liang D, Estrera A, Safi HJ, Leal SM, Bamshad MJ, ... ... Nickerson DA, et al. LOX Mutations Predispose to Thoracic Aortic Aneurysms and Dissections Circulation Research. DOI: 10.1161/CIRCRESAHA.115.307130  0.32
2015 Ansar M, Jan A, Santos-Cortez RL, Wang X, Suliman M, Acharya A, Habib R, Abbe I, Ali G, Lee K, Smith JD, Nickerson DA, Shendure J, Bamshad MJ, et al. Expansion of the spectrum of ITGB6-related disorders to adolescent alopecia, dentogingival abnormalities and intellectual disability. European Journal of Human Genetics : Ejhg. PMID 26695873 DOI: 10.1038/ejhg.2015.260  0.32
2015 Ullah R, Ansar M, Durrani ZU, Lee K, Santos-Cortez RL, Muhammad D, Ali M, Zia M, Ayub M, Khan S, Smith JD, Nickerson DA, Shendure J, Bamshad M, Leal SM, et al. Novel mutations in the genes TGM1 and ALOXE3 underlying autosomal recessive congenital ichthyosis. International Journal of Dermatology. PMID 26578203 DOI: 10.1111/ijd.12950  0.32
2015 Staples J, Ekunwe L, Lange E, Wilson JG, Nickerson DA, Below JE. PRIMUS: Improving Pedigree Reconstruction using Mitochondrial and Y Haplotypes. Bioinformatics (Oxford, England). PMID 26515822 DOI: 10.1093/bioinformatics/btv618  0.32
2015 Reinier F, Zoledziewska M, Hanna D, Smith JD, Valentini M, Zara I, Berutti R, Sanna S, Oppo M, Cusano R, Satta R, Montesu MA, Jones C, Cerimele D, Nickerson DA, et al. Mandibular hypoplasia, deafness, progeroid features and lipodystrophy (MDPL) syndrome in the context of inherited lipodystrophies. Metabolism: Clinical and Experimental. PMID 26350127 DOI: 10.1016/j.metabol.2015.07.022  0.32
2015 Ng BG, Raymond K, Kircher M, Buckingham KJ, Wood T, Shendure J, Nickerson DA, Bamshad MJ, Wong JT, Monteiro FP, Graham BH, Jackson S, Sparkes R, Scheuerle AE, Cathey S, et al. Expanding the Molecular and Clinical Phenotype of SSR4-CDG. Human Mutation. PMID 26264460 DOI: 10.1002/humu.22856  0.32
2015 Ansar M, Raza SI, Lee K, Irfanullah, Shahi S, Acharya A, Dai H, Smith JD, Shendure J, Bamshad MJ, Nickerson DA, Santos-Cortez RL, Ahmad W, Leal SM. A homozygous missense variant in type I keratin KRT25 causes autosomal recessive woolly hair. Journal of Medical Genetics. PMID 26160856 DOI: 10.1136/jmedgenet-2015-103255  0.32
2015 Santos-Cortez RL, Chiong CM, Reyes-Quintos MR, Tantoco ML, Wang X, Acharya A, Abbe I, Giese AP, Smith JD, Allen EK, Li B, Cutiongco-de la Paz EM, Garcia MC, Llanes EG, Labra PJ, ... ... Nickerson DA, et al. Rare A2ML1 variants confer susceptibility to otitis media. Nature Genetics. PMID 26121085 DOI: 10.1038/ng.3347  0.32
2015 Ansar M, Santos-Cortez RL, Saqib MA, Zulfiqar F, Lee K, Ashraf NM, Ullah E, Wang X, Sajid S, Khan FS, Amin-Ud-Din M, Smith JD, Shendure J, Bamshad MJ, ... Nickerson DA, et al. Mutation of ATF6 causes autosomal recessive achromatopsia. Human Genetics. PMID 26063662 DOI: 10.1007/s00439-015-1571-4  0.32
2015 Auer PL, Nalls M, Meschia JF, Worrall BB, Longstreth WT, Seshadri S, Kooperberg C, Burger KM, Carlson CS, Carty CL, Chen WM, Cupples LA, DeStefano AL, Fornage M, Hardy J, ... ... Nickerson DA, et al. Rare and Coding Region Genetic Variants Associated With Risk of Ischemic Stroke: The NHLBI Exome Sequence Project. Jama Neurology. 72: 781-8. PMID 25961151 DOI: 10.1001/jamaneurol.2015.0582  0.32
2015 Chong JX, Burrage LC, Beck AE, Marvin CT, McMillin MJ, Shively KM, Harrell TM, Buckingham KJ, Bacino CA, Jain M, Alanay Y, Berry SA, Carey JC, Gibbs RA, Lee BH, ... ... Nickerson DA, et al. Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3. American Journal of Human Genetics. 96: 841-9. PMID 25957469 DOI: 10.1016/j.ajhg.2015.04.004  0.32
2015 Fohner AE, Robinson R, Yracheta J, Dillard DA, Schilling B, Khan B, Hopkins S, Boyer BB, Black J, Wiener H, Tiwari HK, Gordon A, Nickerson D, Tsai JM, Farin FM, et al. Variation in genes controlling warfarin disposition and response in American Indian and Alaska Native people: CYP2C9, VKORC1, CYP4F2, CYP4F11, GGCX. Pharmacogenetics and Genomics. 25: 343-53. PMID 25946405 DOI: 10.1097/FPC.0000000000000143  0.32
2015 Shim H, Chasman DI, Smith JD, Mora S, Ridker PM, Nickerson DA, Krauss RM, Stephens M. A multivariate genome-wide association analysis of 10 LDL subfractions, and their response to statin treatment, in 1868 Caucasians. Plos One. 10: e0120758. PMID 25898129 DOI: 10.1371/journal.pone.0120758  0.32
2015 Chong JX, McMillin MJ, Shively KM, Beck AE, Marvin CT, Armenteros JR, Buckingham KJ, Nkinsi NT, Boyle EA, Berry MN, Bocian M, Foulds N, Uzielli ML, Haldeman-Englert C, Hennekam RC, ... ... Nickerson DA, et al. 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: 462-73. PMID 25683120 DOI: 10.1016/j.ajhg.2015.01.003  0.32
2015 Stitziel NO, Peloso GM, Abifadel M, Cefalu AB, Fouchier S, Motazacker MM, Tada H, Larach DB, Awan Z, Haller JF, Pullinger CR, Varret M, Rabès JP, Noto D, Tarugi P, ... ... Nickerson DA, et al. Exome sequencing in suspected monogenic dyslipidemias. Circulation. Cardiovascular Genetics. 8: 343-50. PMID 25632026 DOI: 10.1161/CIRCGENETICS.114.000776  0.32
2015 McLaren CE, Emond MJ, Subramaniam VN, Phatak PD, Barton JC, Adams PC, Goh JB, McDonald CJ, Powell LW, Gurrin LC, Allen KJ, Nickerson DA, Louie T, Ramm GA, Anderson GJ, et al. Exome sequencing in HFE C282Y homozygous men with extreme phenotypes identifies a GNPAT variant associated with severe iron overload. Hepatology (Baltimore, Md.). PMID 25605615 DOI: 10.1002/hep.27711  0.32
2015 Guo DC, Gong L, Regalado ES, Santos-Cortez RL, Zhao R, Cai B, Veeraraghavan S, Prakash SK, Johnson RJ, Muilenburg A, Willing M, Jondeau G, Boileau C, Pannu H, Moran R, ... ... Nickerson DA, et al. MAT2A mutations predispose individuals to thoracic aortic aneurysms. American Journal of Human Genetics. 96: 170-7. PMID 25557781 DOI: 10.1016/j.ajhg.2014.11.015  0.32
2015 Schick UM, Auer PL, Bis JC, Lin H, Wei P, Pankratz N, Lange LA, Brody J, Stitziel NO, Kim DS, Carlson CS, Fornage M, Haessler J, Hsu L, Jackson RD, ... ... Nickerson DA, et al. Association of exome sequences with plasma C-reactive protein levels in >9000 participants. Human Molecular Genetics. 24: 559-71. PMID 25187575 DOI: 10.1093/hmg/ddu450  0.32
2015 Crosslin DR, Robertson PD, Carrell DS, Gordon AS, Hanna DS, Burt A, Fullerton SM, Scrol A, Ralston J, Leppig K, Hartzler A, Baldwin E, Andrade Md, Kullo IJ, Tromp G, ... ... Nickerson DA, et al. Prospective participant selection and ranking to maximize actionable pharmacogenetic variants and discovery in the eMERGE Network Genome Medicine. DOI: 10.1186/s13073-015-0181-z  0.32
2015 Chong JX, Buckingham KJ, Jhangiani SN, Boehm C, Sobreira N, Smith JD, Harrell TM, McMillin MJ, Wiszniewski W, Gambin T, CobanAkdemir ZH, Doheny K, Scott AF, Avramopoulos D, Chakravarti A, ... ... Nickerson DA, et al. The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities American Journal of Human Genetics. DOI: 10.1016/j.ajhg.2015.06.009  0.32
2014 Rehman AU, Santos-Cortez RL, Drummond MC, Shahzad M, Lee K, Morell RJ, Ansar M, Jan A, Wang X, Aziz A, Riazuddin S, Smith JD, Wang GT, Ahmed ZM, Gul K, ... ... Nickerson DA, et al. Challenges and solutions for gene identification in the presence of familial locus heterogeneity. European Journal of Human Genetics : Ejhg. PMID 25491636 DOI: 10.1038/ejhg.2014.266  0.32
2014 Staples J, Qiao D, Cho MH, Silverman EK, Nickerson DA, Below JE. PRIMUS: rapid reconstruction of pedigrees from genome-wide estimates of identity by descent. American Journal of Human Genetics. 95: 553-64. PMID 25439724 DOI: 10.1016/j.ajhg.2014.10.005  0.32
2014 Stitziel NO, Won HH, Morrison AC, Peloso GM, Do R, Lange LA, Fontanillas P, Gupta N, Duga S, Goel A, Farrall M, Saleheen D, Ferrario P, König I, ... ... Nickerson DA, et al. Inactivating mutations in NPC1L1 and protection from coronary heart disease. The New England Journal of Medicine. 371: 2072-82. PMID 25390462 DOI: 10.1056/NEJMoa1405386  0.32
2014 Iossifov I, O'Roak BJ, Sanders SJ, Ronemus M, Krumm N, Levy D, Stessman HA, Witherspoon KT, Vives L, Patterson KE, Smith JD, Paeper B, Nickerson DA, Dea J, Dong S, et al. The contribution of de novo coding mutations to autism spectrum disorder. Nature. 515: 216-21. PMID 25363768 DOI: 10.1038/nature13908  0.32
2014 Postmus I, Trompet S, Deshmukh HA, Barnes MR, Li X, Warren HR, Chasman DI, Zhou K, Arsenault BJ, Donnelly LA, Wiggins KL, Avery CL, Griffin P, Feng Q, Taylor KD, ... ... Nickerson DA, et al. Pharmacogenetic meta-analysis of genome-wide association studies of LDL cholesterol response to statins. Nature Communications. 5: 5068. PMID 25350695 DOI: 10.1038/ncomms6068  0.32
2014 Cecchi AC, Guo D, Ren Z, Flynn K, Santos-Cortez RL, Leal SM, Wang GT, Regalado ES, Steinberg GK, Shendure J, Bamshad MJ, Grotta JC, Nickerson DA, Pannu H, et al. RNF213 rare variants in an ethnically diverse population with Moyamoya disease. Stroke; a Journal of Cerebral Circulation. 45: 3200-7. PMID 25278557 DOI: 10.1161/STROKEAHA.114.006244  0.32
2014 Jamuar SS, Lam AT, Kircher M, D'Gama AM, Wang J, Barry BJ, Zhang X, Hill RS, Partlow JN, Rozzo A, Servattalab S, Mehta BK, Topcu M, Amrom D, Andermann E, ... ... Nickerson DA, et al. Somatic mutations in cerebral cortical malformations. The New England Journal of Medicine. 371: 733-43. PMID 25140959 DOI: 10.1056/NEJMoa1314432  0.32
2014 Smith JD, Hing AV, Clarke CM, Johnson NM, Perez FA, Park SS, Horst JA, Mecham B, Maves L, Nickerson DA, Cunningham ML. Exome sequencing identifies a recurrent de novo ZSWIM6 mutation associated with acromelic frontonasal dysostosis. American Journal of Human Genetics. 95: 235-40. PMID 25105228 DOI: 10.1016/j.ajhg.2014.07.008  0.32
2014 Tabor HK, Auer PL, Jamal SM, Chong JX, Yu JH, Gordon AS, Graubert TA, O'Donnell CJ, Rich SS, Nickerson DA, Bamshad MJ. Pathogenic variants for Mendelian and complex traits in exomes of 6,517 European and African Americans: implications for the return of incidental results. American Journal of Human Genetics. 95: 183-93. PMID 25087612 DOI: 10.1016/j.ajhg.2014.07.006  0.32
2014 Du M, Auer PL, Jiao S, Haessler J, Altshuler D, Boerwinkle E, Carlson CS, Carty CL, Chen YD, Curtis K, Franceschini N, Hsu L, Jackson R, Lange LA, Lettre G, ... ... Nickerson DA, et al. Whole-exome imputation of sequence variants identified two novel alleles associated with adult body height in African Americans. Human Molecular Genetics. 23: 6607-15. PMID 25027330 DOI: 10.1093/hmg/ddu361  0.32
2014 Gallego CJ, Bennette CS, Heagerty P, Comstock B, Horike-Pyne M, Hisama F, Amendola LM, Bennett RL, Dorschner MO, Tarczy-Hornoch P, Grady WM, Fullerton SM, Trinidad SB, Regier DA, Nickerson DA, et al. Comparative effectiveness of next generation genomic sequencing for disease diagnosis: design of a randomized controlled trial in patients with colorectal cancer/polyposis syndromes. Contemporary Clinical Trials. 39: 1-8. PMID 24997220 DOI: 10.1016/j.cct.2014.06.016  0.32
2014 Rasmussen-Torvik LJ, Stallings SC, Gordon AS, Almoguera B, Basford MA, Bielinski SJ, Brautbar A, Brilliant MH, Carrell DS, Connolly JJ, Crosslin DR, Doheny KF, Gallego CJ, Gottesman O, Kim DS, ... ... Nickerson DA, et al. Design and anticipated outcomes of the eMERGE-PGx project: a multicenter pilot for preemptive pharmacogenomics in electronic health record systems. Clinical Pharmacology and Therapeutics. 96: 482-9. PMID 24960519 DOI: 10.1038/clpt.2014.137  0.32
2014 Li B, Krakow D, Nickerson DA, Bamshad MJ, Chang Y, Lachman RS, Yilmaz A, Kayserili H, Cohn DH. Opsismodysplasia resulting from an insertion mutation in the SH2 domain, which destabilizes INPPL1. American Journal of Medical Genetics. Part A. 164: 2407-11. PMID 24953221 DOI: 10.1002/ajmg.a.36640  0.32
2014 Kim DS, Kim JH, Burt AA, Crosslin DR, Burnham N, McDonald-McGinn DM, Zackai EH, Nicolson SC, Spray TL, Stanaway IB, Nickerson DA, Russell MW, Hakonarson H, Gaynor JW, Jarvik GP. Patient genotypes impact survival after surgery for isolated congenital heart disease. The Annals of Thoracic Surgery. 98: 104-10; discussion 1. PMID 24811984 DOI: 10.1016/j.athoracsur.2014.03.017  0.32
2014 Makaryan V, Rosenthal EA, Bolyard AA, Kelley ML, Below JE, Bamshad MJ, Bofferding KM, Smith JD, Buckingham K, Boxer LA, Skokowa J, Welte K, Nickerson DA, Jarvik GP, Dale DC, et al. TCIRG1-associated congenital neutropenia. Human Mutation. 35: 824-7. PMID 24753205 DOI: 10.1002/humu.22563  0.32
2014 McMillin MJ, Beck AE, Chong JX, Shively KM, Buckingham KJ, Gildersleeve HI, Aracena MI, Aylsworth AS, Bitoun P, Carey JC, Clericuzio CL, Crow YJ, Curry CJ, Devriendt K, Everman DB, ... ... Nickerson DA, et al. Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5. American Journal of Human Genetics. 94: 734-44. PMID 24726473 DOI: 10.1016/j.ajhg.2014.03.015  0.32
2014 Kim DS, Crosslin DR, Auer PL, Suzuki SM, Marsillach J, Burt AA, Gordon AS, Meschia JF, Nalls MA, Worrall BB, Longstreth WT, Gottesman RF, Furlong CE, Peters U, Rich SS, ... Nickerson DA, et al. Rare coding variation in paraoxonase-1 is associated with ischemic stroke in the NHLBI Exome Sequencing Project. Journal of Lipid Research. 55: 1173-1178. PMID 24711634 DOI: 10.1194/jlr.P049247  0.32
2014 Knowles MR, Ostrowski LE, Leigh MW, Sears PR, Davis SD, Wolf WE, Hazucha MJ, Carson JL, Olivier KN, Sagel SD, Rosenfeld M, Ferkol TW, Dell SD, Milla CE, Randell SH, ... ... Nickerson DA, et al. Mutations in RSPH1 cause primary ciliary dyskinesia with a unique clinical and ciliary phenotype. American Journal of Respiratory and Critical Care Medicine. 189: 707-17. PMID 24568568 DOI: 10.1164/rccm.201311-2047OC  0.32
2014 Weeke P, Mosley JD, Hanna D, Delaney JT, Shaffer C, Wells QS, Van Driest S, Karnes JH, Ingram C, Guo Y, Shyr Y, Norris K, Kannankeril PJ, Ramirez AH, Smith JD, ... ... Nickerson D, et al. Exome sequencing implicates an increased burden of rare potassium channel variants in the risk of drug-induced long QT interval syndrome. Journal of the American College of Cardiology. 63: 1430-7. PMID 24561134 DOI: 10.1016/j.jacc.2014.01.031  0.32
2014 Logsdon BA, Dai JY, Auer PL, Johnsen JM, Ganesh SK, Smith NL, Wilson JG, Tracy RP, Lange LA, Jiao S, Rich SS, Lettre G, Carlson CS, Jackson RD, O'Donnell CJ, ... ... Nickerson DA, et al. A variational Bayes discrete mixture test for rare variant association. Genetic Epidemiology. 38: 21-30. PMID 24482836 DOI: 10.1002/gepi.21772  0.32
2014 Santos-Cortez RL, Lee K, Giese AP, Ansar M, Amin-Ud-Din M, Rehn K, Wang X, Aziz A, Chiu I, Hussain Ali R, Smith JD, Shendure J, Bamshad M, Nickerson DA, et al. Adenylate cyclase 1 (ADCY1) mutations cause recessive hearing impairment in humans and defects in hair cell function and hearing in zebrafish. Human Molecular Genetics. 23: 3289-98. PMID 24482543 DOI: 10.1093/hmg/ddu042  0.32
2014 Rehman AU, Santos-Cortez RL, Morell RJ, Drummond MC, Ito T, Lee K, Khan AA, Basra MA, Wasif N, Ayub M, Ali RA, Raza SI, Nickerson DA, Shendure J, et al. Mutations in TBC1D24, a gene associated with epilepsy, also cause nonsyndromic deafness DFNB86. American Journal of Human Genetics. 94: 144-52. PMID 24387994 DOI: 10.1016/j.ajhg.2013.12.004  0.32
2014 He Z, O'Roak BJ, Smith JD, Wang G, Hooker S, Santos-Cortez RL, Li B, Kan M, Krumm N, Nickerson DA, Shendure J, Eichler EE, Leal SM. Rare-variant extensions of the transmission disequilibrium test: application to autism exome sequence data. American Journal of Human Genetics. 94: 33-46. PMID 24360806 DOI: 10.1016/j.ajhg.2013.11.021  0.32
2014 Gordon AS, Tabor HK, Johnson AD, Snively BM, Assimes TL, Auer PL, Ioannidis JP, Peters U, Robinson JG, Sucheston LE, Wang D, Sotoodehnia N, Rotter JI, Psaty BM, Jackson RD, ... ... Nickerson DA, et al. Quantifying rare, deleterious variation in 12 human cytochrome P450 drug-metabolism genes in a large-scale exome dataset. Human Molecular Genetics. 23: 1957-63. PMID 24282029 DOI: 10.1093/hmg/ddt588  0.32
2014 Losfeld ME, Ng BG, Kircher M, Buckingham KJ, Turner EH, Eroshkin A, Smith JD, Shendure J, Nickerson DA, Bamshad MJ, Freeze HH. A new congenital disorder of glycosylation caused by a mutation in SSR4, the signal sequence receptor 4 protein of the TRAP complex. Human Molecular Genetics. 23: 1602-5. PMID 24218363 DOI: 10.1093/hmg/ddt550  0.32
2014 Milewicz DM, Regalado ES, Shendure J, Nickerson DA, Guo DC. Successes and challenges of using whole exome sequencing to identify novel genes underlying an inherited predisposition for thoracic aortic aneurysms and acute aortic dissections. Trends in Cardiovascular Medicine. 24: 53-60. PMID 23953976 DOI: 10.1016/j.tcm.2013.06.004  0.32
2013 Rosenthal EA, Ranchalis J, Crosslin DR, Burt A, Brunzell JD, Motulsky AG, Nickerson DA, Wijsman EM, Jarvik GP. Joint linkage and association analysis with exome sequence data implicates SLC25A40 in hypertriglyceridemia. American Journal of Human Genetics. 93: 1035-45. PMID 24268658 DOI: 10.1016/j.ajhg.2013.10.019  0.32
2013 Dorschner MO, Amendola LM, Turner EH, Robertson PD, Shirts BH, Gallego CJ, Bennett RL, Jones KL, Tokita MJ, Bennett JT, Kim JH, Rosenthal EA, Kim DS, Tabor HK, ... ... Nickerson DA, et al. Actionable, pathogenic incidental findings in 1,000 participants' exomes. American Journal of Human Genetics. 93: 631-40. PMID 24055113 DOI: 10.1016/j.ajhg.2013.08.006  0.32
2013 Knowles MR, Ostrowski LE, Loges NT, Hurd T, Leigh MW, Huang L, Wolf WE, Carson JL, Hazucha MJ, Yin W, Davis SD, Dell SD, Ferkol TW, Sagel SD, Olivier KN, ... ... Nickerson DA, et al. Mutations in SPAG1 cause primary ciliary dyskinesia associated with defective outer and inner dynein arms. American Journal of Human Genetics. 93: 711-20. PMID 24055112 DOI: 10.1016/j.ajhg.2013.07.025  0.32
2013 Johnsen JM, Nickerson DA, Reiner AP. Massively parallel sequencing: the new frontier of hematologic genomics. Blood. 122: 3268-75. PMID 24021669 DOI: 10.1182/blood-2013-07-460287  0.32
2013 Kim JH, Jarvik GP, Browning BL, Rajagopalan R, Gordon AS, Rieder MJ, Robertson PD, Nickerson DA, Fisher NA, Hopkins PM. Exome sequencing reveals novel rare variants in the ryanodine receptor and calcium channel genes in malignant hyperthermia families. Anesthesiology. 119: 1054-65. PMID 24013571 DOI: 10.1097/ALN.0b013e3182a8a998  0.32
2013 Mangravite LM, Engelhardt BE, Medina MW, Smith JD, Brown CD, Chasman DI, Mecham BH, Howie B, Shim H, Naidoo D, Feng Q, Rieder MJ, Chen YD, Rotter JI, Ridker PM, ... ... Nickerson DA, et al. A statin-dependent QTL for GATM expression is associated with statin-induced myopathy. Nature. 502: 377-80. PMID 23995691 DOI: 10.1038/nature12508  0.32
2013 Duan Q, Liu EY, Auer PL, Zhang G, Lange EM, Jun G, Bizon C, Jiao S, Buyske S, Franceschini N, Carlson CS, Hsu L, Reiner AP, Peters U, Haessler J, ... ... Nickerson DA, et al. Imputation of coding variants in African Americans: better performance using data from the exome sequencing project. Bioinformatics (Oxford, England). 29: 2744-9. PMID 23956302 DOI: 10.1093/bioinformatics/btt477  0.32
2013 Guo DC, Regalado E, Casteel DE, Santos-Cortez RL, Gong L, Kim JJ, Dyack S, Horne SG, Chang G, Jondeau G, Boileau C, Coselli JS, Li Z, Leal SM, Shendure J, ... ... Nickerson DA, et al. Recurrent gain-of-function mutation in PRKG1 causes thoracic aortic aneurysms and acute aortic dissections. American Journal of Human Genetics. 93: 398-404. PMID 23910461 DOI: 10.1016/j.ajhg.2013.06.019  0.32
2013 Santos-Cortez RL, Lee K, Azeem Z, Antonellis PJ, Pollock LM, Khan S, Irfanullah, Andrade-Elizondo PB, Chiu I, Adams MD, Basit S, Smith JD, Nickerson DA, McDermott BM, et al. Mutations in KARS, encoding lysyl-tRNA synthetase, cause autosomal-recessive nonsyndromic hearing impairment DFNB89. American Journal of Human Genetics. 93: 132-40. PMID 23768514 DOI: 10.1016/j.ajhg.2013.05.018  0.32
2013 Johnsen JM, Auer PL, Morrison AC, Jiao S, Wei P, Haessler J, Fox K, McGee SR, Smith JD, Carlson CS, Smith N, Boerwinkle E, Kooperberg C, Nickerson DA, Rich SS, et al. Common and rare von Willebrand factor (VWF) coding variants, VWF levels, and factor VIII levels in African Americans: the NHLBI Exome Sequencing Project. Blood. 122: 590-7. PMID 23690449 DOI: 10.1182/blood-2013-02-485094  0.32
2013 Korvatska O, Strand NS, Berndt JD, Strovas T, Chen DH, Leverenz JB, Kiianitsa K, Mata IF, Karakoc E, Greenup JL, Bonkowski E, Chuang J, Moon RT, Eichler EE, Nickerson DA, et al. Altered splicing of ATP6AP2 causes X-linked parkinsonism with spasticity (XPDS). Human Molecular Genetics. 22: 3259-68. PMID 23595882 DOI: 10.1093/hmg/ddt180  0.32
2013 Ng BG, Buckingham KJ, Raymond K, Kircher M, Turner EH, He M, Smith JD, Eroshkin A, Szybowska M, Losfeld ME, Chong JX, Kozenko M, Li C, Patterson MC, Gilbert RD, ... Nickerson DA, et al. Mosaicism of the UDP-galactose transporter SLC35A2 causes a congenital disorder of glycosylation. American Journal of Human Genetics. 92: 632-6. PMID 23561849 DOI: 10.1016/j.ajhg.2013.03.012  0.32
2013 Marneros AG, Beck AE, Turner EH, McMillin MJ, Edwards MJ, Field M, de Macena Sobreira NL, Perez AB, Fortes JA, Lampe AK, Giovannucci Uzielli ML, Gordon CT, Plessis G, Le Merrer M, Amiel J, ... ... Nickerson DA, et al. Mutations in KCTD1 cause scalp-ear-nipple syndrome. American Journal of Human Genetics. 92: 621-6. PMID 23541344 DOI: 10.1016/j.ajhg.2013.03.002  0.32
2013 Norton N, Li D, Rampersaud E, Morales A, Martin ER, Zuchner S, Guo S, Gonzalez M, Hedges DJ, Robertson PD, Krumm N, Nickerson DA, Hershberger RE. Exome sequencing and genome-wide linkage analysis in 17 families illustrate the complex contribution of TTN truncating variants to dilated cardiomyopathy. Circulation. Cardiovascular Genetics. 6: 144-53. PMID 23418287 DOI: 10.1161/CIRCGENETICS.111.000062  0.32
2013 Below JE, Earl DL, Shively KM, McMillin MJ, Smith JD, Turner EH, Stephan MJ, Al-Gazali LI, Hertecant JL, Chitayat D, Unger S, Cohn DH, Krakow D, Swanson JM, Faustman EM, ... ... Nickerson DA, et al. Whole-genome analysis reveals that mutations in inositol polyphosphate phosphatase-like 1 cause opsismodysplasia. American Journal of Human Genetics. 92: 137-43. PMID 23273567 DOI: 10.1016/j.ajhg.2012.11.011  0.32
2013 Knowles MR, Leigh MW, Ostrowski LE, Huang L, Carson JL, Hazucha MJ, Yin W, Berg JS, Davis SD, Dell SD, Ferkol TW, Rosenfeld M, Sagel SD, Milla CE, Olivier KN, ... ... Nickerson DA, et al. Exome sequencing identifies mutations in CCDC114 as a cause of primary ciliary dyskinesia. American Journal of Human Genetics. 92: 99-106. PMID 23261302 DOI: 10.1016/j.ajhg.2012.11.003  0.32
2013 McMillin MJ, Below JE, Shively KM, Beck AE, Gildersleeve HI, Pinner J, Gogola GR, Hecht JT, Grange DK, Harris DJ, Earl DL, Jagadeesh S, Mehta SG, Robertson SP, Swanson JM, ... ... Nickerson DA, et al. Mutations in ECEL1 cause distal arthrogryposis type 5D. American Journal of Human Genetics. 92: 150-6. PMID 23261301 DOI: 10.1016/j.ajhg.2012.11.014  0.32
2013 Luquetti DV, Hing AV, Rieder MJ, Nickerson DA, Turner EH, Smith J, Park S, Cunningham ML. "Mandibulofacial dysostosis with microcephaly" caused by EFTUD2 mutations: expanding the phenotype. American Journal of Medical Genetics. Part A. 161: 108-13. PMID 23239648 DOI: 10.1002/ajmg.a.35696  0.32
2013 Fu W, O'Connor TD, Jun G, Kang HM, Abecasis G, Leal SM, Gabriel S, Rieder MJ, Altshuler D, Shendure J, Nickerson DA, Bamshad MJ, Akey JM. Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants. Nature. 493: 216-20. PMID 23201682 DOI: 10.1038/nature11690  0.32
2013 Kim DS, Burt AA, Crosslin DR, Robertson PD, Ranchalis JE, Boyko EJ, Nickerson DA, Furlong CE, Jarvik GP. Novel common and rare genetic determinants of paraoxonase activity: FTO, SERPINA12, and ITGAL. Journal of Lipid Research. 54: 552-60. PMID 23160181 DOI: 10.1194/jlr.P033266  0.32
2013 Mikacenic C, Reiner AP, Holden TD, Nickerson DA, Wurfel MM. Variation in the TLR10/TLR1/TLR6 locus is the major genetic determinant of interindividual difference in TLR1/2-mediated responses. Genes and Immunity. 14: 52-7. PMID 23151486 DOI: 10.1038/gene.2012.53  0.32
2013 Staples J, Nickerson DA, Below JE. Utilizing graph theory to select the largest set of unrelated individuals for genetic analysis. Genetic Epidemiology. 37: 136-41. PMID 22996348 DOI: 10.1002/gepi.21684  0.32
2013 Ramirez AH, Shaffer CM, Delaney JT, Sexton DP, Levy SE, Rieder MJ, Nickerson DA, George AL, Roden DM. Novel rare variants in congenital cardiac arrhythmia genes are frequent in drug-induced torsades de pointes Pharmacogenomics Journal. 13: 325-329. DOI: 10.1038/tpj.2012.14  0.32
2012 Marchani EE, Chapman NH, Cheung CY, Ankenman K, Stanaway IB, Coon HH, Nickerson D, Bernier R, Brkanac Z, Wijsman EM. Identification of rare variants from exome sequence in a large pedigree with autism. Human Heredity. 74: 153-64. PMID 23594493 DOI: 10.1159/000346560  0.32
2012 O'Roak BJ, Vives L, Fu W, Egertson JD, Stanaway IB, Phelps IG, Carvill G, Kumar A, Lee C, Ankenman K, Munson J, Hiatt JB, Turner EH, Levy R, O'Day DR, ... ... Nickerson DA, et al. Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders. Science (New York, N.Y.). 338: 1619-22. PMID 23160955 DOI: 10.1126/science.1227764  0.32
2012 Horani A, Druley TE, Zariwala MA, Patel AC, Levinson BT, Van Arendonk LG, Thornton KC, Giacalone JC, Albee AJ, Wilson KS, Turner EH, Nickerson DA, Shendure J, Bayly PV, Leigh MW, et al. Whole-exome capture and sequencing identifies HEATR2 mutation as a cause of primary ciliary dyskinesia. American Journal of Human Genetics. 91: 685-93. PMID 23040496 DOI: 10.1016/j.ajhg.2012.08.022  0.32
2012 Lee S, Emond MJ, Bamshad MJ, Barnes KC, Rieder MJ, Nickerson DA, Christiani DC, Wurfel MM, Lin X. Optimal unified approach for rare-variant association testing with application to small-sample case-control whole-exome sequencing studies. American Journal of Human Genetics. 91: 224-37. PMID 22863193 DOI: 10.1016/j.ajhg.2012.06.007  0.32
2012 Chen YZ, Matsushita MM, Robertson P, Rieder M, Girirajan S, Antonacci F, Lipe H, Eichler EE, Nickerson DA, Bird TD, Raskind WH. Autosomal dominant familial dyskinesia and facial myokymia: single exome sequencing identifies a mutation in adenylyl cyclase 5. Archives of Neurology. 69: 630-5. PMID 22782511 DOI: 10.1001/archneurol.2012.54  0.32
2012 Boileau C, Guo DC, Hanna N, Regalado ES, Detaint D, Gong L, Varret M, Prakash SK, Li AH, d'Indy H, Braverman AC, Grandchamp B, Kwartler CS, Gouya L, Santos-Cortez RL, ... ... Nickerson DA, et al. TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome. Nature Genetics. 44: 916-21. PMID 22772371 DOI: 10.1038/ng.2348  0.32
2012 Emond MJ, Louie T, Emerson J, Zhao W, Mathias RA, Knowles MR, Wright FA, Rieder MJ, Tabor HK, Nickerson DA, Barnes KC, Gibson RL, Bamshad MJ. Exome sequencing of extreme phenotypes identifies DCTN4 as a modifier of chronic Pseudomonas aeruginosa infection in cystic fibrosis. Nature Genetics. 44: 886-9. PMID 22772370 DOI: 10.1038/ng.2344  0.32
2012 Bamshad MJ, Shendure JA, Valle D, Hamosh A, Lupski JR, Gibbs RA, Boerwinkle E, Lifton RP, Gerstein M, Gunel M, Mane S, Nickerson DA. The Centers for Mendelian Genomics: a new large-scale initiative to identify the genes underlying rare Mendelian conditions. American Journal of Medical Genetics. Part A. 158: 1523-5. PMID 22628075 DOI: 10.1002/ajmg.a.35470  0.32
2012 Tennessen JA, Bigham AW, O'Connor TD, Fu W, Kenny EE, Gravel S, McGee S, Do R, Liu X, Jun G, Kang HM, Jordan D, Leal SM, Gabriel S, Rieder MJ, ... ... Nickerson DA, et al. Evolution and functional impact of rare coding variation from deep sequencing of human exomes. Science (New York, N.Y.). 337: 64-9. PMID 22604720 DOI: 10.1126/science.1219240  0.32
2012 Krumm N, Sudmant PH, Ko A, O'Roak BJ, Malig M, Coe BP, Quinlan AR, Nickerson DA, Eichler EE. Copy number variation detection and genotyping from exome sequence data. Genome Research. 22: 1525-32. PMID 22585873 DOI: 10.1101/gr.138115.112  0.32
2012 Rieder MJ, Green GE, Park SS, Stamper BD, Gordon CT, Johnson JM, Cunniff CM, Smith JD, Emery SB, Lyonnet S, Amiel J, Holder M, Heggie AA, Bamshad MJ, Nickerson DA, et al. A human homeotic transformation resulting from mutations in PLCB4 and GNAI3 causes auriculocondylar syndrome. American Journal of Human Genetics. 90: 907-14. PMID 22560091 DOI: 10.1016/j.ajhg.2012.05.013  0.32
2012 Bernier FP, Caluseriu O, Ng S, Schwartzentruber J, Buckingham KJ, Innes AM, Jabs EW, Innis JW, Schuette JL, Gorski JL, Byers PH, Andelfinger G, Siu V, Lauzon J, Fernandez BA, ... ... Nickerson DA, et al. Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome. American Journal of Human Genetics. 90: 925-33. PMID 22541558 DOI: 10.1016/j.ajhg.2012.04.004  0.32
2012 O'Roak BJ, Vives L, Girirajan S, Karakoc E, Krumm N, Coe BP, Levy R, Ko A, Lee C, Smith JD, Turner EH, Stanaway IB, Vernot B, Malig M, Baker C, ... ... Nickerson DA, et al. Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. Nature. 485: 246-50. PMID 22495309 DOI: 10.1038/nature10989  0.32
2012 Norton N, Robertson PD, Rieder MJ, Züchner S, Rampersaud E, Martin E, Li D, Nickerson DA, Hershberger RE. Evaluating pathogenicity of rare variants from dilated cardiomyopathy in the exome era Circulation: Cardiovascular Genetics. 5: 167-174. PMID 22337857 DOI: 10.1161/CIRCGENETICS.111.961805  0.32
2012 Chen YZ, Matsushita M, Girirajan S, Lisowski M, Sun E, Sul Y, Bernier R, Estes A, Dawson G, Minshew N, Shellenberg GD, Eichler EE, Rieder MJ, Nickerson DA, Tsuang DW, et al. Evidence for involvement of GNB1L in autism. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics. 159: 61-71. PMID 22095694 DOI: 10.1002/ajmg.b.32002  0.32
2012 O'Roak BJ, Deriziotis P, Lee C, Vives L, Schwartz JJ, Girirajan S, Karakoc E, MacKenzie AP, Ng SB, Baker C, Rieder MJ, Nickerson DA, Bernier R, Fisher SE, Shendure J, et al. Corrigendum: Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations (Nature Genetics (2011) 43, (585-589)) Nature Genetics. 44: 471. DOI: 10.1038/ng0412-471  0.32
2011 Sivakumaran TA, Igo RP, Kidd JM, Itsara A, Kopplin LJ, Chen W, Hagstrom SA, Peachey NS, Francis PJ, Klein ML, Chew EY, Ramprasad VL, Tay WT, Mitchell P, Seielstad M, ... ... Nickerson DA, et al. A 32 kb critical region excluding Y402H in CFH mediates risk for age-related macular degeneration. Plos One. 6: e25598. PMID 22022419 DOI: 10.1371/journal.pone.0025598  0.32
2011 Kumar A, White TA, MacKenzie AP, Clegg N, Lee C, Dumpit RF, Coleman I, Ng SB, Salipante SJ, Rieder MJ, Nickerson DA, Corey E, Lange PH, Morrissey C, Vessella RL, et al. Exome sequencing identifies a spectrum of mutation frequencies in advanced and lethal prostate cancers. Proceedings of the National Academy of Sciences of the United States of America. 108: 17087-92. PMID 21949389 DOI: 10.1073/pnas.1108745108  0.32
2011 Bamshad MJ, Ng SB, Bigham AW, Tabor HK, Emond MJ, Nickerson DA, Shendure J. Exome sequencing as a tool for Mendelian disease gene discovery. Nature Reviews. Genetics. 12: 745-55. PMID 21946919 DOI: 10.1038/nrg3031  0.32
2011 Regalado ES, Guo DC, Villamizar C, Avidan N, Gilchrist D, McGillivray B, Clarke L, Bernier F, Santos-Cortez RL, Leal SM, Bertoli-Avella AM, Shendure J, Rieder MJ, Nickerson DA, Milewicz DM. Exome sequencing identifies SMAD3 mutations as a cause of familial thoracic aortic aneurysm and dissection with intracranial and other arterial aneurysms Circulation Research. 109: 680-686. PMID 21778426 DOI: 10.1161/CIRCRESAHA.111.248161  0.32
2011 Rosenthal EA, Ronald J, Rothstein J, Rajagopalan R, Ranchalis J, Wolfbauer G, Albers JJ, Brunzell JD, Motulsky AG, Rieder MJ, Nickerson DA, Wijsman EM, Jarvik GP. Linkage and association of phospholipid transfer protein activity to LASS4. Journal of Lipid Research. 52: 1837-46. PMID 21757428 DOI: 10.1194/jlr.P016576  0.32
2011 Hannibal MC, Buckingham KJ, Ng SB, Ming JE, Beck AE, McMillin MJ, Gildersleeve HI, Bigham AW, Tabor HK, Mefford HC, Cook J, Yoshiura K, Matsumoto T, Matsumoto N, Miyake N, ... ... Nickerson DA, et al. Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome. American Journal of Medical Genetics. Part A. 155: 1511-6. PMID 21671394 DOI: 10.1002/ajmg.a.34074  0.32
2011 Innocenti F, Cooper GM, Stanaway IB, Gamazon ER, Smith JD, Mirkov S, Ramirez J, Liu W, Lin YS, Moloney C, Aldred SF, Trinklein ND, Schuetz E, Nickerson DA, Thummel KE, et al. Identification, replication, and functional fine-mapping of expression quantitative trait loci in primary human liver tissue. Plos Genetics. 7: e1002078. PMID 21637794 DOI: 10.1371/journal.pgen.1002078  0.32
2011 O'Roak BJ, Deriziotis P, Lee C, Vives L, Schwartz JJ, Girirajan S, Karakoc E, Mackenzie AP, Ng SB, Baker C, Rieder MJ, Nickerson DA, Bernier R, Fisher SE, Shendure J, et al. Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations. Nature Genetics. 43: 585-9. PMID 21572417 DOI: 10.1038/ng.835  0.32
2011 Bielinski SJ, Reiner AP, Nickerson D, Carlson C, Bailey KR, Thyagarajan B, Lange LA, Boerwinkle EA, Jacobs DR, Gross MD. Polymorphisms in the ICAM1 gene predict circulating soluble intercellular adhesion molecule-1(sICAM-1). Atherosclerosis. 216: 390-4. PMID 21392767 DOI: 10.1016/j.atherosclerosis.2011.02.018  0.32
2011 Norton N, Li D, Rieder MJ, Siegfried JD, Rampersaud E, Züchner S, Mangos S, Gonzalez-Quintana J, Wang L, McGee S, Reiser J, Martin E, Nickerson DA, Hershberger RE. Genome-wide studies of copy number variation and exome sequencing identify rare variants in BAG3 as a cause of dilated cardiomyopathy American Journal of Human Genetics. 88: 273-282. PMID 21353195 DOI: 10.1016/j.ajhg.2011.01.016  0.32
2011 Dumitrescu L, Glenn K, Brown-Gentry K, Shephard C, Wong M, Rieder MJ, Smith JD, Nickerson DA, Crawford DC. Variation in LPA is associated with Lp(a) levels in three populations from the third National Health and Nutrition Examination Survey Plos One. 6. PMID 21305047 DOI: 10.1371/journal.pone.0016604  0.32
2010 Abecasis GR, Altshuler D, Auton A, Brooks LD, Durbin RM, Gibbs RA, Hurles ME, McVean GA. A map of human genome variation from population-scale sequencing. Nature. 467: 1061-73. PMID 20981092 DOI: 10.1038/nature09534  0.32
2010 Ng SB, Nickerson DA, Bamshad MJ, Shendure J. Massively parallel sequencing and rare disease. Human Molecular Genetics. 19: R119-24. PMID 20846941 DOI: 10.1093/hmg/ddq390  0.32
2010 Itsara A, Wu H, Smith JD, Nickerson DA, Romieu I, London SJ, Eichler EE. De novo rates and selection of large copy number variation. Genome Research. 20: 1469-81. PMID 20841430 DOI: 10.1101/gr.107680.110  0.32
2010 Ng SB, Bigham AW, Buckingham KJ, Hannibal MC, McMillin MJ, Gildersleeve HI, Beck AE, Tabor HK, Cooper GM, Mefford HC, Lee C, Turner EH, Smith JD, Rieder MJ, Yoshiura K, ... ... Nickerson DA, et al. Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome. Nature Genetics. 42: 790-3. PMID 20711175 DOI: 10.1038/ng.646  0.32
2010 Kumar R, Seibold MA, Aldrich MC, Williams LK, Reiner AP, Colangelo L, Galanter J, Gignoux C, Hu D, Sen S, Choudhry S, Peterson EL, Rodriguez-Santana J, Rodriguez-Cintron W, Nalls MA, ... ... Nickerson DA, et al. Genetic ancestry in lung-function predictions. The New England Journal of Medicine. 363: 321-30. PMID 20647190 DOI: 10.1056/NEJMoa0907897  0.32
2010 Mangravite LM, Medina MW, Cui J, Pressman S, Smith JD, Rieder MJ, Guo X, Nickerson DA, Rotter JI, Krauss RM. Combined influence of LDLR and HMGCR sequence variation on lipid-lowering response to simvastatin. Arteriosclerosis, Thrombosis, and Vascular Biology. 30: 1485-92. PMID 20413733 DOI: 10.1161/ATVBAHA.110.203273  0.32
2010 Cooper GM, Goode DL, Ng SB, Sidow A, Bamshad MJ, Shendure J, Nickerson DA. Single-nucleotide evolutionary constraint scores highlight disease-causing mutations. Nature Methods. 7: 250-1. PMID 20354513 DOI: 10.1038/nmeth0410-250  0.32
2010 Barber MJ, Mangravite LM, Hyde CL, Chasman DI, Smith JD, McCarty CA, Li X, Wilke RA, Rieder MJ, Williams PT, Ridker PM, Chatterjee A, Rotter JI, Nickerson DA, Stephens M, et al. Genome-wide association of lipid-lowering response to statins in combined study populations. Plos One. 5: e9763. PMID 20339536 DOI: 10.1371/journal.pone.0009763  0.32
2010 Jarvik GP, Rajagopalan R, Rosenthal EA, Wolfbauer G, McKinstry L, Vaze A, Brunzell J, Motulsky AG, Nickerson DA, Heagerty PJ, Wijsman EM, Albers JJ. Genetic and nongenetic sources of variation in phospholipid transfer protein activity. Journal of Lipid Research. 51: 983-90. PMID 19965587 DOI: 10.1194/jlr.M000125  0.32
2010 Ng SB, Buckingham KJ, Lee C, Bigham AW, Tabor HK, Dent KM, Huff CD, Shannon PT, Jabs EW, Nickerson DA, Shendure J, Bamshad MJ. Exome sequencing identifies the cause of a mendelian disorder. Nature Genetics. 42: 30-5. PMID 19915526 DOI: 10.1038/ng.499  0.32
2010 Zerr T, Cooper GM, Eichler EE, Nickerson DA. Targeted interrogation of copy number variation using SCIMMkit. Bioinformatics (Oxford, England). 26: 120-2. PMID 19846438 DOI: 10.1093/bioinformatics/btp606  0.32
2009 Reiner AP, Gross MD, Carlson CS, Bielinski SJ, Lange LA, Fornage M, Jenny NS, Walston J, Tracy RP, Williams OD, Jacobs DR, Nickerson DA. Common coding variants of the HNF1A gene are associated with multiple cardiovascular risk phenotypes in community-based samples of younger and older European-American adults: the Coronary Artery Risk Development in Young Adults Study and The Cardiovascular Health Study. Circulation. Cardiovascular Genetics. 2: 244-54. PMID 20031592 DOI: 10.1161/CIRCGENETICS.108.839506  0.32
2009 Ng SB, Turner EH, Robertson PD, Flygare SD, Bigham AW, Lee C, Shaffer T, Wong M, Bhattacharjee A, Eichler EE, Bamshad M, Nickerson DA, Shendure J. Targeted capture and massively parallel sequencing of 12 human exomes. Nature. 461: 272-6. PMID 19684571 DOI: 10.1038/nature08250  0.32
2009 Crawford DC, Zheng N, Speelmon EC, Stanaway I, Rieder MJ, Nickerson DA, McElrath MJ, Lingappa J. An excess of rare genetic variation in ABCE1 among Yorubans and African-American individuals with HIV-1 Genes and Immunity. 10: 715-721. PMID 19657357 DOI: 10.1038/gene.2009.57  0.32
2009 Turner EH, Ng SB, Nickerson DA, Shendure J. Methods for genomic partitioning. Annual Review of Genomics and Human Genetics. 10: 263-84. PMID 19630561 DOI: 10.1146/annurev-genom-082908-150112  0.32
2009 Mefford HC, Cooper GM, Zerr T, Smith JD, Baker C, Shafer N, Thorland EC, Skinner C, Schwartz CE, Nickerson DA, Eichler EE. A method for rapid, targeted CNV genotyping identifies rare variants associated with neurocognitive disease. Genome Research. 19: 1579-85. PMID 19506092 DOI: 10.1101/gr.094987.109  0.32
2009 Turner EH, Lee C, Ng SB, Nickerson DA, Shendure J. Massively parallel exon capture and library-free resequencing across 16 genomes. Nature Methods. 6: 315-6. PMID 19349981 DOI: 10.1038/nmeth.f.248  0.32
2009 Itsara A, Cooper GM, Baker C, Girirajan S, Li J, Absher D, Krauss RM, Myers RM, Ridker PM, Chasman DI, Mefford H, Ying P, Nickerson DA, Eichler EE. Population analysis of large copy number variants and hotspots of human genetic disease. American Journal of Human Genetics. 84: 148-61. PMID 19166990 DOI: 10.1016/j.ajhg.2008.12.014  0.32
2008 Chasman DI, Paré G, Zee RY, Parker AN, Cook NR, Buring JE, Kwiatkowski DJ, Rose LM, Smith JD, Williams PT, Rieder MJ, Rotter JI, Nickerson DA, Krauss RM, Miletich JP, et al. Genetic loci associated with plasma concentration of low-density lipoprotein cholesterol, high-density lipoprotein cholesterol, triglycerides, apolipoprotein A1, and Apolipoprotein B among 6382 white women in genome-wide analysis with replication. Circulation. Cardiovascular Genetics. 1: 21-30. PMID 19802338 DOI: 10.1161/CIRCGENETICS.108.773168  0.32
2008 Keating BJ, Tischfield S, Murray SS, Bhangale T, Price TS, Glessner JT, Galver L, Barrett JC, Grant SF, Farlow DN, Chandrupatla HR, Hansen M, Ajmal S, Papanicolaou GJ, Guo Y, ... ... Nickerson DA, et al. Concept, design and implementation of a cardiovascular gene-centric 50 k SNP array for large-scale genomic association studies. Plos One. 3: e3583. PMID 18974833 DOI: 10.1371/journal.pone.0003583  0.32
2008 Paschou P, Drineas P, Lewis J, Nievergelt CM, Nickerson DA, Smith JD, Ridker PM, Chasman DI, Krauss RM, Ziv E. Tracing sub-structure in the European American population with PCA-informative markers. Plos Genetics. 4: e1000114. PMID 18797516 DOI: 10.1371/journal.pgen.1000114  0.32
2008 Cooper GM, Zerr T, Kidd JM, Eichler EE, Nickerson DA. Systematic assessment of copy number variant detection via genome-wide SNP genotyping. Nature Genetics. 40: 1199-203. PMID 18776910 DOI: 10.1038/ng.236  0.32
2008 Wurfel MM, Gordon AC, Holden TD, Radella F, Strout J, Kajikawa O, Ruzinski JT, Rona G, Black RA, Stratton S, Jarvik GP, Hajjar AM, Nickerson DA, Rieder M, Sevransky J, et al. Toll-like receptor 1 polymorphisms affect innate immune responses and outcomes in sepsis. American Journal of Respiratory and Critical Care Medicine. 178: 710-20. PMID 18635889 DOI: 10.1164/rccm.200803-462OC  0.32
2008 Crawford DC, Peng Z, Cheng JF, Boffelli D, Ahearn M, Nguyen D, Shaffer T, Yi Q, Livingston RJ, Rieder MJ, Nickerson DA. LPA and PLG sequence variation and kringle IV-2 copy number in two populations Human Heredity. 66: 199-209. PMID 18612205 DOI: 10.1159/000143403  0.32
2008 Crawford DC, Zimmer SM, Morin CA, Messonnier NE, Lynfield R, Yi Q, Shephard C, Wong M, Rieder MJ, Livingston RJ, Nickerson DA, Whitney CG, Lingappa J. Integrating host genomics with surveillance for invasive bacterial diseases Emerging Infectious Diseases. 14: 1138-1140. PMID 18598642 DOI: 10.3201/eid1407.071287  0.32
2008 Bhangale TR, Rieder MJ, Nickerson DA. Estimating coverage and power for genetic association studies using near-complete variation data Nature Genetics. 40: 841-843. PMID 18568023 DOI: 10.1038/ng.180  0.32
2008 Reiner AP, Carlson CS, Thyagarajan B, Rieder MJ, Polak JF, Siscovick DS, Nickerson DA, Jacobs DR, Gross MD. Soluble P-selectin, SELP polymorphisms, and atherosclerotic risk in European-American and African-African young adults: the Coronary Artery Risk Development in Young Adults (CARDIA) Study. Arteriosclerosis, Thrombosis, and Vascular Biology. 28: 1549-55. PMID 18535285 DOI: 10.1161/ATVBAHA.108.169532  0.32
2008 Rieder MJ, Livingston RJ, Stanaway IB, Nickerson DA. The Environmental Genome Project: Reference polymorphisms for drug metabolism genes and genome-wide association studies Drug Metabolism Reviews. 40: 241-261. PMID 18464045 DOI: 10.1080/03602530801952880  0.32
2008 Kidd JM, Cooper GM, Donahue WF, Hayden HS, Sampas N, Graves T, Hansen N, Teague B, Alkan C, Antonacci F, Haugen E, Zerr T, Yamada NA, Tsang P, Newman TL, ... ... Nickerson DA, et al. Mapping and sequencing of structural variation from eight human genomes. Nature. 453: 56-64. PMID 18451855 DOI: 10.1038/nature06862  0.32
2008 Reiner AP, Wurfel MM, Lange LA, Carlson CS, Nord AS, Carty CL, Rieder MJ, Desmarais C, Jenny NS, Iribarren C, Walston JD, Williams OD, Nickerson DA, Jarvik GP. Polymorphisms of the IL1-receptor antagonist gene (IL1RN) are associated with multiple markers of systemic inflammation. Arteriosclerosis, Thrombosis, and Vascular Biology. 28: 1407-12. PMID 18451331 DOI: 10.1161/ATVBAHA.108.167437  0.32
2008 Reiner AP, Barber MJ, Guan Y, Ridker PM, Lange LA, Chasman DI, Walston JD, Cooper GM, Jenny NS, Rieder MJ, Durda JP, Smith JD, Novembre J, Tracy RP, Rotter JI, ... ... Nickerson DA, et al. Polymorphisms of the HNF1A gene encoding hepatocyte nuclear factor-1 alpha are associated with C-reactive protein. American Journal of Human Genetics. 82: 1193-201. PMID 18439552 DOI: 10.1016/j.ajhg.2008.03.017  0.32
2008 Krauss RM, Mangravite LM, Smith JD, Medina MW, Wang D, Guo X, Rieder MJ, Simon JA, Hulley SB, Waters D, Saad M, Williams PT, Taylor KD, Yang H, Nickerson DA, et al. Variation in the 3-hydroxyl-3-methylglutaryl coenzyme a reductase gene is associated with racial differences in low-density lipoprotein cholesterol response to simvastatin treatment. Circulation. 117: 1537-44. PMID 18332269 DOI: 10.1161/CIRCULATIONAHA.107.708388  0.32
2007 Reiner AP, Carlson CS, Jenny NS, Durda JP, Siscovick DS, Nickerson DA, Tracy RP. USF1 gene variants, cardiovascular risk, and mortality in European Americans: Analysis of two US cohort studies Arteriosclerosis, Thrombosis, and Vascular Biology. 27: 2736-2742. PMID 17885212 DOI: 10.1161/ATVBAHA.107.154559  0.32
2007 Laurie CC, Nickerson DA, Anderson AD, Weir BS, Livingston RJ, Dean MD, Smith KL, Schadt EE, Nachman MW. Linkage disequilibrium in wild mice. Plos Genetics. 3: e144. PMID 17722986 DOI: 10.1371/journal.pgen.0030144  0.32
2007 Moran A, Simon JA, Shiboski S, Pickering TG, Waters D, Rotter JI, Lyon C, Nickerson D, Yang H, Saad M, Hsueh W, Krauss RM. Differential effects of ramipril on ambulatory blood pressure in African Americans and Caucasians. American Journal of Hypertension. 20: 884-91. PMID 17679038 DOI: 10.1016/j.amjhyper.2007.02.006  0.32
2007 Cooper GM, Nickerson DA, Eichler EE. Mutational and selective effects on copy-number variants in the human genome. Nature Genetics. 39: S22-9. PMID 17597777 DOI: 10.1038/ng2054  0.32
2007 Eichler EE, Nickerson DA, Altshuler D, Bowcock AM, Brooks LD, Carter NP, Church DM, Felsenfeld A, Guyer M, Lee C, Lupski JR, Mullikin JC, Pritchard JK, Sebat J, et al. Completing the map of human genetic variation. Nature. 447: 161-5. PMID 17495918 DOI: 10.1038/447161a  0.32
2007 Reiner AP, Carlson CS, Ziv E, Iribarren C, Jaquish CE, Nickerson DA. Genetic ancestry, population sub-structure, and cardiovascular disease-related traits among African-American participants in the CARDIA Study Human Genetics. 121: 565-575. PMID 17356887 DOI: 10.1007/s00439-007-0350-2  0.32
2007 Carlson CS, Heagerty PJ, Nord AS, Pritchard DK, Ranchalis J, Boguch JM, Duan H, Hatsukami TS, Schwartz SM, Rieder MJ, Nickerson DA, Jarvik GP. TagSNP evaluation for the association of 42 inflammation loci and vascular disease: evidence of IL6, FGB, ALOX5, NFKBIA, and IL4R loci effects. Human Genetics. 121: 65-75. PMID 17115186 DOI: 10.1007/s00439-006-0289-8  0.32
2007 Reiner AP, Carlson CS, Rieder MJ, Siscovick DS, Liu K, Chandler WL, Green D, Schwartz SM, Nickerson DA. Coagulation factor VII gene haplotypes, obesity-related traits, and cardiovascular risk in young women Journal of Thrombosis and Haemostasis. 5: 42-49. PMID 17059418 DOI: 10.1111/j.1538-7836.2006.02279.x  0.32
2006 Lange LA, Carlson CS, Hindorff LA, Lange EM, Walston J, Durda JP, Cushman M, Bis JC, Zeng D, Lin D, Kuller LH, Nickerson DA, Psaty BM, Tracy RP, Reiner AP. Association of polymorphisms in the CRP gene with circulating C-reactive protein levels and cardiovascular events. Jama. 296: 2703-11. PMID 17164456 DOI: 10.1001/jama.296.22.2703  0.32
2006 Bhangale TR, Stephens M, Nickerson DA. Automating resequencing-based detection of insertion-deletion polymorphisms. Nature Genetics. 38: 1457-62. PMID 17115056 DOI: 10.1038/ng1925  0.32
2006 Crawford DC, Sanders CL, Qin X, Smith JD, Shephard C, Wong M, Witrak L, Rieder MJ, Nickerson DA. Genetic variation is associated with C-reactive protein levels in the Third National Health and Nutrition Examination Survey Circulation. 114: 2458-2465. PMID 17101857 DOI: 10.1161/CIRCULATIONAHA.106.615740  0.32
2006 Fields S, Nickerson DA, Waterston RH, Ramsey PG. Positioning a medical school for modern biomedical research: The Department of Genome Sciences at the University of Washington School of Medicine Academic Medicine. 81: 882-885. PMID 16985347 DOI: 10.1097/01.ACM.0000238198.25633.e0  0.32
2006 Eberle MA, Rieder MJ, Kruglyak L, Nickerson DA. Allele frequency matching between SNPs reveals an excess of linkage disequilibrium in genic regions of the human genome. Plos Genetics. 2: e142. PMID 16965180 DOI: 10.1371/journal.pgen.0020142  0.32
2006 Reiner AP, Carty CL, Carlson CS, Wan JY, Rieder MJ, Smith JD, Rice K, Fornage M, Jaquish CE, Williams OD, Tracy RP, Lewis CE, Siscovick DS, Boerwinkle E, Nickerson DA. Association between patterns of nucleotide variation across the three fibrinogen genes and plasma fibrinogen levels: The Coronary Artery Risk Development in Young Adults (CARDIA) study Journal of Thrombosis and Haemostasis. 4: 1279-1287. PMID 16706972 DOI: 10.1111/j.1538-7836.2006.01907.x  0.32
2006 Howie BN, Carlson CS, Rieder MJ, Nickerson DA. Efficient selection of tagging single-nucleotide polymorphisms in multiple populations Human Genetics. 120: 58-68. PMID 16680432 DOI: 10.1007/s00439-006-0182-5  0.32
2006 Carlson CS, Smith JD, Stanaway IB, Rieder MJ, Nickerson DA. Direct detection of null alleles in SNP genotyping data Human Molecular Genetics. 15: 1931-1937. PMID 16644863 DOI: 10.1093/hmg/ddl115  0.32
2006 Crawford DC, Yi Q, Smith JD, Shephard C, Wong M, Witrak L, Livingston RJ, Rieder MJ, Nickerson DA. Allelic spectrum of the natural variation in CRP Human Genetics. 119: 496-504. PMID 16550411 DOI: 10.1007/s00439-006-0160-y  0.32
2006 Simon JA, Lin F, Hulley SB, Blanche PJ, Waters D, Shiboski S, Rotter JI, Nickerson DA, Yang H, Saad M, Krauss RM. Phenotypic predictors of response to simvastatin therapy among African-Americans and Caucasians: the Cholesterol and Pharmacogenetics (CAP) Study. The American Journal of Cardiology. 97: 843-50. PMID 16516587 DOI: 10.1016/j.amjcard.2005.09.134  0.32
2006 Newman TL, Rieder MJ, Morrison VA, Sharp AJ, Smith JD, Sprague LJ, Kaul R, Carlson CS, Olson MV, Nickerson DA, Eichler EE. High-throughput genotyping of intermediate-size structural variation. Human Molecular Genetics. 15: 1159-67. PMID 16497726 DOI: 10.1093/hmg/ddl031  0.32
2006 Stephens M, Sloan JS, Robertson PD, Scheet P, Nickerson DA. Automating sequence-based detection and genotyping of SNPs from diploid samples. Nature Genetics. 38: 375-81. PMID 16493422 DOI: 10.1038/ng1746  0.32
2006 Carlson CS, Heagerty PJ, Hatsukami TS, Richter RJ, Ranchalis J, Lewis J, Bacus TJ, McKinstry LA, Schellenberg GD, Rieder M, Nickerson D, Furlong CE, Chait A, Jarvik GP. TagSNP analyses of the PON gene cluster: effects on PON1 activity, LDL oxidative susceptibility, and vascular disease. Journal of Lipid Research. 47: 1014-24. PMID 16474172 DOI: 10.1194/jlr.M500517-JLR200  0.32
2006 Hindorff LA, Psaty BM, Carlson CS, Heckbert SR, Lumley T, Smith NL, Lemaitre RN, Rieder MJ, Nickerson DA, Reiner AP. Common genetic variation in the prothrombin gene, hormone therapy, and incident nonfatal myocardial infarction in postmenopausal women American Journal of Epidemiology. 163: 600-607. PMID 16467413 DOI: 10.1093/aje/kwj092  0.32
2006 Mackelprang R, Livingston RJ, Eberle MA, Carlson CS, Yi Q, Akey JM, Nickerson DA. Sequence diversity, natural selection and linkage disequilibrium in the human T cell receptor alpha/delta locus. Human Genetics. 119: 255-66. PMID 16425038 DOI: 10.1007/s00439-005-0111-z  0.32
2005 Carlson CS, Thomas DJ, Eberle MA, Swanson JE, Livingston RJ, Rieder MJ, Nickerson DA. Genomic regions exhibiting positive selection identified from dense genotype data. Genome Research. 15: 1553-65. PMID 16251465 DOI: 10.1101/gr.4326505  0.32
2005 Rieder MJ, Reiner AP, Gage BF, Nickerson DA, Eby CS, McLeod HL, Blough DK, Thummel KE, Veenstra DL, Rettie AE. Effect of VKORC1 haplotypes on transcriptional regulation and warfarin dose. The New England Journal of Medicine. 352: 2285-93. PMID 15930419 DOI: 10.1056/NEJMoa044503  0.32
2005 Bhangale TR, Rieder MJ, Livingston RJ, Nickerson DA. Comprehensive identification and characterization of diallelic insertion-deletion polymorphisms in 330 human candidate genes Human Molecular Genetics. 14: 59-69. PMID 15525656 DOI: 10.1093/hmg/ddi006  0.32
2005 Carlson CS, Reider MJ, Nickerson DA, Eberle MA, Kruglyak L. Comment on 'Discrepancies in dbSNP confirmations rates and allele frequency distributions from varying genotyping error rates and patterns'. Bioinformatics (Oxford, England). 21: 141-3. PMID 15333455 DOI: 10.1093/bioinformatics/bth492  0.32
2004 Livingston RJ, von Niederhausern A, Jegga AG, Crawford DC, Carlson CS, Rieder MJ, Gowrisankar S, Aronow BJ, Weiss RB, Nickerson DA. Pattern of sequence variation across 213 environmental response genes. Genome Research. 14: 1821-31. PMID 15364900 DOI: 10.1101/gr.2730004  0.32
2004 Akey JM, Eberle MA, Rieder MJ, Carlson CS, Shriver MD, Nickerson DA, Kruglyak L. Population history and natural selection shape patterns of genetic variation in 132 genes. Plos Biology. 2: e286. PMID 15361935 DOI: 10.1371/journal.pbio.0020286  0.32
2004 Furman I, Rieder MJ, Da Ponte S, Carrington DP, Nickerson DA, Kruglyak L, Markianos K. Sequence-based linkage analysis. American Journal of Human Genetics. 75: 647-53. PMID 15329798 DOI: 10.1086/424888  0.32
2004 Crawford DC, Bhangale T, Li N, Hellenthal G, Rieder MJ, Nickerson DA, Stephens M. Evidence for substantial fine-scale variation in recombination rates across the human genome. Nature Genetics. 36: 700-6. PMID 15184900 DOI: 10.1038/ng1376  0.32
2004 Carlson CS, Eberle MA, Kruglyak L, Nickerson DA. Mapping complex disease loci in whole-genome association studies. Nature. 429: 446-52. PMID 15164069 DOI: 10.1038/nature02623  0.32
2004 Fullerton SM, Buchanan AV, Sonpar VA, Taylor SL, Smith JD, Carlson CS, Salomaa V, StengÃ¥rd JH, Boerwinkle E, Clark AG, Nickerson DA, Weiss KM. The effects of scale: variation in the APOA1/C3/A4/A5 gene cluster. Human Genetics. 115: 36-56. PMID 15108119 DOI: 10.1007/s00439-004-1106-x  0.32
2004 Crawford DC, Carlson CS, Rieder MJ, Carrington DP, Yi Q, Smith JD, Eberle MA, Kruglyak L, Nickerson DA. Haplotype diversity across 100 candidate genes for inflammation, lipid metabolism, and blood pressure regulation in two populations. American Journal of Human Genetics. 74: 610-22. PMID 15015130 DOI: 10.1086/382227  0.32
2004 Carlson CS, Eberle MA, Rieder MJ, Yi Q, Kruglyak L, Nickerson DA. Selecting a maximally informative set of single-nucleotide polymorphisms for association analyses using linkage disequilibrium. American Journal of Human Genetics. 74: 106-20. PMID 14681826 DOI: 10.1086/381000  0.32
2003 Jarvik GP, Hatsukami TS, Carlson C, Richter RJ, Jampsa R, Brophy VH, Margolin S, Rieder M, Nickerson D, Schellenberg GD, Heagerty PJ, Furlong CE. Paraoxonase activity, but not haplotype utilizing the linkage disequilibrium structure, predicts vascular disease. Arteriosclerosis, Thrombosis, and Vascular Biology. 23: 1465-71. PMID 12805074 DOI: 10.1161/01.ATV.0000081635.96290.D3  0.32
2003 Jarvik GP, Jampsa R, Richter RJ, Carlson CS, Rieder MJ, Nickerson DA, Furlong CE. Novel paraoxonase (PON1) nonsense and missense mutations predicted by functional genomic assay of PON1 status Pharmacogenetics. 13: 291-295. PMID 12724622 DOI: 10.1097/00008571-200305000-00009  0.32
2003 Carlson CS, Eberle MA, Rieder MJ, Smith JD, Kruglyak L, Nickerson DA. Additional SNPs and linkage-disequilibrium analyses are necessary for whole-genome association studies in humans. Nature Genetics. 33: 518-21. PMID 12652300 DOI: 10.1038/ng1128  0.32
2003 Brumfield RT, Beerli P, Nickerson DA, Edwards SV. The utility of single nucleotide polymorphisms in inferences of population history Trends in Ecology and Evolution. 18: 249-256. DOI: 10.1016/S0169-5347(03)00018-1  0.32
2002 Mackelprang R, Carlson CS, Subrahmanyan L, Livingston RJ, Eberle MA, Nickerson DA. Sequence variation in the human T-cell receptor loci Immunological Reviews. 190: 26-39. PMID 12493004 DOI: 10.1034/j.1600-065X.2002.19003.x  0.32
2002 Fullerton SM, Clark AG, Weiss KM, Taylor SL, StengÃ¥rd JH, Salomaa V, Boerwinkle E, Nickerson DA. Sequence polymorphism at the human apolipoprotein AII gene ( APOA2): unexpected deficit of variation in an African-American sample. Human Genetics. 111: 75-87. PMID 12136239 DOI: 10.1007/s00439-002-0763-x  0.32
2002 Steinberg K, Beck J, Nickerson D, Garcia-Closas M, Gallagher M, Caggana M, Reid Y, Cosentino M, Ji J, Johnson D, Hayes RB, Earley M, Lorey F, Hannon H, Khoury MJ, et al. DNA banking for epidemiologic studies: a review of current practices. Epidemiology (Cambridge, Mass.). 13: 246-54. PMID 11964924 DOI: 10.1097/00001648-200205000-00003  0.32
2002 Edland SD, Tobe VO, Rieder MJ, Bowen JD, McCormick W, Teri L, Schellenberg GD, Larson EB, Nickerson DA, Kukull WA. Mitochondrial genetic variants and Alzheimer disease: a case-control study of the T4336C and G5460A variants. Alzheimer Disease and Associated Disorders. 16: 1-7. PMID 11882743 DOI: 10.1097/00002093-200201000-00001  0.32
2002 Fullerton SM, Clark AG, Weiss KM, Taylor SL, Stengård JH, Salomaa V, Boerwinkle E, Nickerson DA. Sequence polymorphism at the human apolipoprotein AII gene (APOA2): Unexpected deficit of variation in an African-American sample (Human Genetics (2002) III (75-87)) Human Genetics. 111: 577-578. DOI: 10.1007/s00439-002-0850-z  0.32
2001 Subrahmanyan L, Eberle MA, Clark AG, Kruglyak L, Nickerson DA. Sequence variation and linkage disequilibrium in the human T-cell receptor beta (TCRB) locus. American Journal of Human Genetics. 69: 381-95. PMID 11438886 DOI: 10.1086/321297  0.32
2001 Kruglyak L, Nickerson DA. Variation is the spice of life. Nature Genetics. 27: 234-6. PMID 11242096 DOI: 10.1038/85776  0.32
2001 Carlson CS, Newman TL, Nickerson DA. SNPing in the human genome Current Opinion in Chemical Biology. 5: 78-85. PMID 11166653 DOI: 10.1016/S1367-5931(00)00171-X  0.32
2001 Clark A, Weiss KM, Fullerton SM, Nickerson DA, Sing CF. Fine-structure of linkage disequilibrium in candidate genes for cardiovascular disease Pathologie Biologie. 49: 405. DOI: 10.1016/S0369-8114(01)00192-4  0.32
2000 Nickerson DA, Taylor SL, Fullerton SM, Weiss KM, Clark AG, StengÃ¥rd JH, Salomaa V, Boerwinkle E, Sing CF. Sequence diversity and large-scale typing of SNPs in the human apolipoprotein E gene. Genome Research. 10: 1532-45. PMID 11042151 DOI: 10.1101/gr.146900  0.32
2000 Fullerton SM, Clark AG, Weiss KM, Nickerson DA, Taylor SL, Stengârd JH, Salomaa V, Vartiainen E, Perola M, Boerwinkle E, Sing CF. Apolipoprotein E variation at the sequence haplotype level: implications for the origin and maintenance of a major human polymorphism. American Journal of Human Genetics. 67: 881-900. PMID 10986041 DOI: 10.1086/303070  0.32
2000 Templeton AR, Clark AG, Weiss KM, Nickerson DA, Boerwinkle E, Sing CF. Recombinational and mutational hotspots within the human lipoprotein lipase gene. American Journal of Human Genetics. 66: 69-83. PMID 10631137 DOI: 10.1086/302699  0.32
1998 Yokota H, Nickerson DA, Trask BJ, van den Engh G, Hirst M, Sadowski I, Aebersold R. Mapping a protein-binding site on straightened DNA by atomic force microscopy. Analytical Biochemistry. 264: 158-64. PMID 9866677 DOI: 10.1006/abio.1998.2851  0.32
1998 Edelstein RE, Nickerson DA, Tobe VO, Manns-Arcuino LA, Frenkel LM. Oligonucleotide ligation assay for detecting mutations in the human immunodeficiency virus type 1 pol gene that are associated with resistance to zidovudine, didanosine, and lamivudine. Journal of Clinical Microbiology. 36: 569-72. PMID 9466779 DOI: 10.1128/JCM.36.2.569-572.1998  0.32
1996 Parker LT, Zakeri H, Deng Q, Spurgeon S, Kwok PY, Nickerson DA. AmpliTaq DNA polymerase, FS dye-terminator sequencing: analysis of peak height patterns. Biotechniques. 21: 694-9. PMID 8891223 DOI: 10.2144/96214RR02  0.32
1989 Ostrand-Rosenberg S, Nickerson DA, Clements VK, Garcia EP, Lamouse-Smith E, Hood L, Stroynowski I. Embryonal carcinoma cells express Qa and Tla class I genes of the major histocompatibility complex. Proceedings of the National Academy of Sciences of the United States of America. 86: 5084-8. PMID 2740345  0.32
1989 Brorson KA, Hunt SW, Hunkapiller T, Sun YH, Cheroutre H, Nickerson DA, Hood L. Comparison of exon 5 sequences from 35 class I genes of the BALB/c mouse. The Journal of Experimental Medicine. 170: 1837-58. PMID 2584927 DOI: 10.1084/jem.170.6.1837  0.32
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