Center-Authored Papers

Filters: Author is Nickerson, Deborah A  [Clear All Filters]
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Dorschner MO, Amendola LM, Turner EH, Robertson PD, Shirts BH, Gallego CJ, Bennett RL, Jones KL, Tokita MJ, Bennett JT et al..  2013.  Actionable, pathogenic incidental findings in 1,000 participants' exomes.. American journal of human genetics. 93(4):631-40. Abstract
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
Fox K, Johnsen JM, Coe BP, Frazar CD, Reiner AP, Eichler EE, Nickerson DA.  2016.  Analysis of exome sequencing data sets reveals structural variation in the coding region of ABO in individuals of African ancestry.. Transfusion. 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
Schick UM, Auer PL, Bis JC, Lin H, Wei P, Pankratz N, Lange LA, Brody J, Stitziel NO, Kim DS et al..  2015.  Association of exome sequences with plasma C-reactive protein levels in >9000 participants.. Human molecular genetics. 24(2):559-71. Abstract
Lange LA, Carlson CS, Hindorff LA, Lange EM, Walston J, Durda PJ, Cushman M, Bis JC, Zeng D, Lin DY et al..  2006.  Association of polymorphisms in the CRP gene with circulating C-reactive protein levels and cardiovascular events.. JAMA : the journal of the American Medical Association. 296(22):2703-11. Abstract
Chong JX, Burrage LC, Beck AE, Marvin CT, McMillin MJ, Shively KM, Harrell TM, Buckingham KJ, Bacino CA, Jain M et al..  2015.  Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3.. American journal of human genetics. 96(5):841-9. Abstract
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Kim DS, Kim JH, Burt AA, Crosslin DR, Burnham N, Kim CE, McDonald-McGinn DM, Zackai EH, Nicolson SC, Spray TL et al..  2016.  Burden of potentially pathologic copy number variants is higher in children with isolated congenital heart disease and significantly impairs covariate-adjusted transplant-free survival.. The Journal of thoracic and cardiovascular surgery. 151(4):1147-1151.e4. 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
Green RC, Goddard KAB, Jarvik GP, Amendola LM, Appelbaum PS, Berg JS, Bernhardt BA, Biesecker LG, Biswas S, Blout CL et al..  2016.  Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine.. American journal of human genetics. 98(6):1051-1066. Abstract
Reiner AP, Gross MD, Carlson CS, Bielinski SJ, Lange LA, Fornage M, Jenny NS, Walston J, Tracy RP, Williams DO et al..  2009.  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 Cardiovascula. Circulation. Cardiovascular genetics. 2(3):244-54. Abstract
Gallego CJ, Bennette CS, Heagerty P, Comstock B, Horike-Pyne M, Hisama F, Amendola LM, Bennett RL, Dorschner MO, Tarczy-Hornoch P et al..  2014.  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. Abstract
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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
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Howie BN, Carlson CS, Rieder MJ, Nickerson DA.  2006.  Efficient selection of tagging single-nucleotide polymorphisms in multiple populations.. Human genetics. 120(1):58-68. Abstract
Chami N, Chen M-H, Slater AJ, Eicher JD, Evangelou E, Tajuddin SM, Love-Gregory L, Kacprowski T, Schick UM, Nomura A et al..  2016.  Exome Genotyping Identifies Pleiotropic Variants Associated with Red Blood Cell Traits.. American journal of human genetics. Abstract
Kumar A, White TA, MacKenzie AP, Clegg N, Lee C, Dumpit RF, Coleman I, Ng SB, Salipante SJ, Rieder MJ et al..  2011.  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(41):17087-92. Abstract
Do R, Stitziel NO, Won H-H, Jørgensen AB, Duga S, Merlini PA, Kiezun A, Farrall M, Goel A, Zuk O et al..  2015.  Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction.. Nature. 518(7537):102-6. Abstract
Stitziel NO, Peloso GM, Abifadel M, Cefalu AB, Fouchier S, Motazacker MM, Tada H, Larach DB, Awan Z, Haller JF et al..  2015.  Exome sequencing in suspected monogenic dyslipidemias.. Circulation. Cardiovascular genetics. 8(2):343-50. Abstract
Ng BG, Raymond K, Kircher M, Buckingham KJ, Wood T, Shendure J, Nickerson DA, Bamshad MJ, Wong JTS, Monteiro FP et al..  2015.  Expanding the Molecular and Clinical Phenotype of SSR4-CDG.. Human mutation. Abstract
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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Du M, Jiao S, Bien SA, Gala M, Abecasis G, Bezieau S, Brenner H, Butterbach K, Caan BJ, Carlson CS et al..  2016.  Fine-Mapping of Common Genetic Variants Associated with Colorectal Tumor Risk Identified Potential Functional Variants.. PloS one. 11(7):e0157521. Abstract
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Reiner AP, Carlson CS, Ziv E, Iribarren C, Jaquish CE, Nickerson DA.  2007.  Genetic ancestry, population sub-structure, and cardiovascular disease-related traits among African-American participants in the CARDIA Study.. Human genetics. 121(5):565-75. Abstract