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Items: 21


Detecting potential pleiotropy across cardiovascular and neurological diseases using univariate, bivariate, and multivariate methods on 43,870 individuals from the eMERGE network.

Zhang X, Veturi Y, Verma S, Bone W, Verma A, Lucas A, Hebbring S, Denny JC, Stanaway IB, Jarvik GP, Crosslin D, Larson EB, Rasmussen-Torvik L, Pendergrass SA, Smoller JW, Hakonarson H, Sleiman P, Weng C, Fasel D, Wei WQ, Kullo I, Schaid D, Chung WK, Ritchie MD.

Pac Symp Biocomput. 2019;24:272-283.


Unfolding of hidden white blood cell count phenotypes for gene discovery using latent class mixed modeling.

Hall TO, Stanaway IB, Carrell DS, Carroll RJ, Denny JC, Hakonarson H, Larson EB, Mentch FD, Peissig PL, Pendergrass SA, Rosenthal EA, Jarvik GP, Crosslin DR.

Genes Immun. 2018 Nov 21. doi: 10.1038/s41435-018-0051-y. [Epub ahead of print]


The eMERGE genotype set of 83,717 subjects imputed to ~40 million variants genome wide and association with the herpes zoster medical record phenotype.

Stanaway IB, Hall TO, Rosenthal EA, Palmer M, Naranbhai V, Knevel R, Namjou-Khales B, Carroll RJ, Kiryluk K, Gordon AS, Linder J, Howell KM, Mapes BM, Lin FTJ, Joo YY, Hayes MG, Gharavi AG, Pendergrass SA, Ritchie MD, de Andrade M, Croteau-Chonka DC, Raychaudhuri S, Weiss ST, Lebo M, Amr SS, Carrell D, Larson EB, Chute CG, Rasmussen-Torvik LJ, Roy-Puckelwartz MJ, Sleiman P, Hakonarson H, Li R, Karlson EW, Peterson JF, Kullo IJ, Chisholm R, Denny JC, Jarvik GP; eMERGE Network, Crosslin DR.

Genet Epidemiol. 2019 Feb;43(1):63-81. doi: 10.1002/gepi.22167. Epub 2018 Oct 8.


Rare loss of function variants in candidate genes and risk of colorectal cancer.

Rosenthal EA, Shirts BH, Amendola LM, Horike-Pyne M, Robertson PD, Hisama FM, Bennett RL, Dorschner MO, Nickerson DA, Stanaway IB, Nassir R, Vickers KT, Li C, Grady WM, Peters U, Jarvik GP; NHLBI GO Exome Sequencing Project.

Hum Genet. 2018 Oct;137(10):795-806. doi: 10.1007/s00439-018-1938-4. Epub 2018 Sep 28.


An Atlas of Genetic Variation Linking Pathogen-Induced Cellular Traits to Human Disease.

Wang L, Pittman KJ, Barker JR, Salinas RE, Stanaway IB, Williams GD, Carroll RJ, Balmat T, Ingham A, Gopalakrishnan AM, Gibbs KD, Antonia AL; eMERGE Network, Heitman J, Lee SC, Jarvik GP, Denny JC, Horner SM, DeLong MR, Valdivia RH, Crosslin DR, Ko DC.

Cell Host Microbe. 2018 Aug 8;24(2):308-323.e6. doi: 10.1016/j.chom.2018.07.007.


A vascular endothelial growth factor A genetic variant is associated with improved ventricular function and transplant-free survival after surgery for non-syndromic CHD.

Mavroudis CD, Seung Kim D, Burnham N, Morss AH, Kim JH, Burt AA, Crosslin DR, McDonald-McGinn DM, Zackai EH, Cohen MS, Nicolson SC, Spray TL, Stanaway IB, Nickerson DA, Russell MW, Hakonarson H, Jarvik GP, Gaynor JW.

Cardiol Young. 2018 Jan;28(1):39-45. doi: 10.1017/S1047951117001391. Epub 2017 Sep 20.


Association of rare missense variants in the second intracellular loop of NaV1.7 sodium channels with familial autism.

Rubinstein M, Patowary A, Stanaway IB, McCord E, Nesbitt RR, Archer M, Scheuer T, Nickerson D, Raskind WH, Wijsman EM, Bernier R, Catterall WA, Brkanac Z.

Mol Psychiatry. 2018 Feb;23(2):231-239. doi: 10.1038/mp.2016.222. Epub 2016 Dec 13.


Human Oral Buccal Microbiomes Are Associated with Farmworker Status and Azinphos-Methyl Agricultural Pesticide Exposure.

Stanaway IB, Wallace JC, Shojaie A, Griffith WC, Hong S, Wilder CS, Green FH, Tsai J, Knight M, Workman T, Vigoren EM, McLean JS, Thompson B, Faustman EM.

Appl Environ Microbiol. 2016 Dec 30;83(2). pii: e02149-16. doi: 10.1128/AEM.02149-16. Print 2017 Jan 15.


Genetic Candidate Variants in Two Multigenerational Families with Childhood Apraxia of Speech.

Peter B, Wijsman EM, Nato AQ Jr; University of Washington Center for Mendelian Genomics, Matsushita MM, Chapman KL, Stanaway IB, Wolff J, Oda K, Gabo VB, Raskind WH.

PLoS One. 2016 Apr 27;11(4):e0153864. doi: 10.1371/journal.pone.0153864. eCollection 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.

Kim DS, Kim JH, Burt AA, Crosslin DR, Burnham N, Kim CE, McDonald-McGinn DM, Zackai EH, Nicolson SC, Spray TL, Stanaway IB, Nickerson DA, Heagerty PJ, Hakonarson H, Gaynor JW, Jarvik GP.

J Thorac Cardiovasc Surg. 2016 Apr;151(4):1147-51.e4. doi: 10.1016/j.jtcvs.2015.09.136. Epub 2015 Nov 10.


Patient genotypes impact survival after surgery for isolated congenital heart disease.

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.

Ann Thorac Surg. 2014 Jul;98(1):104-10; discussion 110-1. doi: 10.1016/j.athoracsur.2014.03.017. Epub 2014 May 6.


Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders.

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, Krumm N, Coe BP, Martin BK, Borenstein E, Nickerson DA, Mefford HC, Doherty D, Akey JM, Bernier R, Eichler EE, Shendure J.

Science. 2012 Dec 21;338(6114):1619-22. doi: 10.1126/science.1227764. Epub 2012 Nov 15.


Results of genome-wide analyses on neurodevelopmental phenotypes at four-year follow-up following cardiac surgery in infancy.

Kim DS, Stanaway IB, Rajagopalan R, Bernbaum JC, Solot CB, Burnham N, Zackai EH, Clancy RR, Nicolson SC, Gerdes M, Nickerson DA, Hakonarson H, Gaynor JW, Jarvik GP.

PLoS One. 2012;7(9):e45936. doi: 10.1371/journal.pone.0045936. Epub 2012 Sep 25.


Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.

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, Reilly B, Akey JM, Borenstein E, Rieder MJ, Nickerson DA, Bernier R, Shendure J, Eichler EE.

Nature. 2012 Apr 4;485(7397):246-50. doi: 10.1038/nature10989.


Identification of rare variants from exome sequence in a large pedigree with autism.

Marchani EE, Chapman NH, Cheung CY, Ankenman K, Stanaway IB, Coon HH, Nickerson D, Bernier R, Brkanac Z, Wijsman EM.

Hum Hered. 2012;74(3-4):153-64. doi: 10.1159/000346560. Epub 2013 Apr 11.


Identification, replication, and functional fine-mapping of expression quantitative trait loci in primary human liver tissue.

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, Rieder MJ, Rettie AE, Ratain MJ, Cox NJ, Brown CD.

PLoS Genet. 2011 May;7(5):e1002078. doi: 10.1371/journal.pgen.1002078. Epub 2011 May 26.


IGF1R variants associated with isolated single suture craniosynostosis.

Cunningham ML, Horst JA, Rieder MJ, Hing AV, Stanaway IB, Park SS, Samudrala R, Speltz ML.

Am J Med Genet A. 2011 Jan;155A(1):91-7. doi: 10.1002/ajmg.a.33781.


Single nucleotide polymorphism discovery in TBX1 in individuals with and without 22q11.2 deletion syndrome.

Heike CL, Starr JR, Rieder MJ, Cunningham ML, Edwards KL, Stanaway IB, Crawford DC.

Birth Defects Res A Clin Mol Teratol. 2010 Jan;88(1):54-63. doi: 10.1002/bdra.20604.


A genome-wide scan for common genetic variants with a large influence on warfarin maintenance dose.

Cooper GM, Johnson JA, Langaee TY, Feng H, Stanaway IB, Schwarz UI, Ritchie MD, Stein CM, Roden DM, Smith JD, Veenstra DL, Rettie AE, Rieder MJ.

Blood. 2008 Aug 15;112(4):1022-7. doi: 10.1182/blood-2008-01-134247. Epub 2008 Jun 5.


The environmental genome project: reference polymorphisms for drug metabolism genes and genome-wide association studies.

Rieder MJ, Livingston RJ, Stanaway IB, Nickerson DA.

Drug Metab Rev. 2008;40(2):241-61. doi: 10.1080/03602530801952880 . Review.


Direct detection of null alleles in SNP genotyping data.

Carlson CS, Smith JD, Stanaway IB, Rieder MJ, Nickerson DA.

Hum Mol Genet. 2006 Jun 15;15(12):1931-7. Epub 2006 Apr 27.


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