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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. Rosenthal EA, et al. Among authors: stanaway ib. Hum Genet. 2018 Oct;137(10):795-806. doi: 10.1007/s00439-018-1938-4. Epub 2018 Sep 28. Hum Genet. 2018. PMID: 30267214 Free PMC article. Clinical Trial.
Direct detection of null alleles in SNP genotyping data.
Carlson CS, Smith JD, Stanaway IB, Rieder MJ, Nickerson DA. Carlson CS, et al. Among authors: stanaway ib. Hum Mol Genet. 2006 Jun 15;15(12):1931-7. doi: 10.1093/hmg/ddl115. Epub 2006 Apr 27. Hum Mol Genet. 2006. PMID: 16644863
IGF1R variants associated with isolated single suture craniosynostosis.
Cunningham ML, Horst JA, Rieder MJ, Hing AV, Stanaway IB, Park SS, Samudrala R, Speltz ML. Cunningham ML, et al. Among authors: stanaway ib. Am J Med Genet A. 2011 Jan;155A(1):91-7. doi: 10.1002/ajmg.a.33781. Am J Med Genet A. 2011. PMID: 21204214 Free PMC article.
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. Innocenti F, et al. Among authors: stanaway ib. PLoS Genet. 2011 May;7(5):e1002078. doi: 10.1371/journal.pgen.1002078. Epub 2011 May 26. PLoS Genet. 2011. PMID: 21637794 Free PMC article.
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. O'Roak BJ, et al. Among authors: stanaway ib. Nature. 2012 Apr 4;485(7397):246-50. doi: 10.1038/nature10989. Nature. 2012. PMID: 22495309 Free PMC article.
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. Kim DS, et al. Among authors: stanaway ib. PLoS One. 2012;7(9):e45936. doi: 10.1371/journal.pone.0045936. Epub 2012 Sep 25. PLoS One. 2012. PMID: 23049896 Free PMC article.
67 results