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Emily Turner, Ph.D. - Publications

Affiliations: 
University of Washington, Seattle, Seattle, WA 
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27 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 Cohen SA, Turner EH, Beightol MB, Jacobson A, Gooley TA, Salipante SJ, Haraldsdottir S, Smith C, Scroggins S, Tait JF, Grady WM, Lin EH, Cohn DE, Goodfellow PJ, Arnold MW, et al. Frequent PIK3CA Mutations in Colorectal and Endometrial Tumors with 2 or More Somatic Mutations in Mismatch Repair Genes. Gastroenterology. PMID 27302833 DOI: 10.1053/J.Gastro.2016.06.004  0.579
2016 Mathias PC, Turner EH, Scroggins SM, Salipante SJ, Hoffman NG, Pritchard CC, Shirts BH. Applying Ancestry and Sex Computation as a Quality Control Tool in Targeted Next-Generation Sequencing. American Journal of Clinical Pathology. 145: 308-15. PMID 27124912 DOI: 10.1093/Ajcp/Aqv098  0.557
2016 Shirts BH, Casadei S, Jacobson AL, Lee MK, Gulsuner S, Bennett RL, Miller M, Hall SA, Hampel H, Hisama FM, Naylor LV, Goetsch C, Leppig K, Tait JF, Scroggins SM, ... Turner EH, et al. Improving performance of multigene panels for genomic analysis of cancer predisposition. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 26845104 DOI: 10.1038/Gim.2015.212  0.513
2015 Shiovitz S, Turner E, Beightol M, Jacobson A, Gooley T, Salipante SJ, Haraldsdottir S, Tait JF, Grady WM, Lin EH, De La Chapelle A, Cohn DE, Goodfellow PJ, Arnold M, Hampel H, et al. PIK3CA mutations in colorectal and endometrial cancer with double somatic mismatch repair mutations compared to Lynch syndrome. Journal of Clinical Oncology. 33: 3550-3550. DOI: 10.1200/Jco.2015.33.15_Suppl.3550  0.613
2014 Salipante SJ, Scroggins SM, Hampel HL, Turner EH, Pritchard CC. Microsatellite instability detection by next generation sequencing. Clinical Chemistry. 60: 1192-9. PMID 24987110 DOI: 10.1373/clinchem.2014.223677  0.613
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  0.63
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, ... ... Turner EH, 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  0.56
2013 O'Connor TD, Kiezun A, Bamshad M, Rich SS, Smith JD, Turner E, Leal SM, Akey JM. Fine-scale patterns of population stratification confound rare variant association tests. Plos One. 8: e65834. PMID 23861739 DOI: 10.1371/Journal.Pone.0065834  0.35
2013 Thompson O, Edgley M, Strasbourger P, Flibotte S, Ewing B, Adair R, Au V, Chaudhry I, Fernando L, Hutter H, Kieffer A, Lau J, Lee N, Miller A, Raymant G, ... ... Turner EH, et al. The million mutation project: a new approach to genetics in Caenorhabditis elegans. Genome Research. 23: 1749-62. PMID 23800452 DOI: 10.1101/Gr.157651.113  0.565
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, 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  0.653
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, 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  0.496
2013 Pyott SM, Tran TT, Leistritz DF, Pepin MG, Mendelsohn NJ, Temme RT, Fernandez BA, Elsayed SM, Elsobky E, Verma I, Nair S, Turner EH, Smith JD, Jarvik GP, Byers PH. WNT1 mutations in families affected by moderately severe and progressive recessive osteogenesis imperfecta. American Journal of Human Genetics. 92: 590-7. PMID 23499310 DOI: 10.1016/J.Ajhg.2013.02.009  0.303
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, 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  0.526
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, ... Turner EH, 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  0.592
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, 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  0.742
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  0.564
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, 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  0.73
2011 Ventura M, Catacchio CR, Alkan C, Marques-Bonet T, Sajjadian S, Graves TA, Hormozdiari F, Navarro A, Malig M, Baker C, Lee C, Turner EH, Chen L, Kidd JM, Archidiacono N, et al. Gorilla genome structural variation reveals evolutionary parallelisms with chimpanzee. Genome Research. 21: 1640-9. PMID 21685127 DOI: 10.1101/Gr.124461.111  0.501
2010 Adey A, Morrison HG, Asan, Xun X, Kitzman JO, Turner EH, Stackhouse B, MacKenzie AP, Caruccio NC, Zhang X, Shendure J. Rapid, low-input, low-bias construction of shotgun fragment libraries by high-density in vitro transposition Genome Biology. 11. PMID 21143862 DOI: 10.1186/Gb-2010-11-12-R119  0.732
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, 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  0.688
2010 Igartua C, Turner EH, Ng SB, Hodges E, Hannon GJ, Bhattacharjee A, Rieder MJ, Nickerson DA, Shendure J. Targeted enrichment of specific regions in the human genome by array hybridization. Current Protocols in Human Genetics / Editorial Board, Jonathan L. Haines ... [Et Al.]. Unit 18.3. PMID 20582915 DOI: 10.1002/0471142905.Hg1803S66  0.647
2010 Mamanova L, Coffey AJ, Scott CE, Kozarewa I, Turner EH, Kumar A, Howard E, Shendure J, Turner DJ. Target-enrichment strategies for next-generation sequencing. Nature Methods. 7: 111-8. PMID 20111037 DOI: 10.1038/Nmeth.1419  0.626
2010 Hiatt JB, Patwardhan RP, Turner EH, Lee C, Shendure J. Parallel, tag-directed assembly of locally derived short sequence reads Nature Methods. 7: 119-122. PMID 20081835 DOI: 10.1038/Nmeth.1416  0.732
2009 Vasta V, Ng SB, Turner EH, Shendure J, Hahn SH. Next generation sequence analysis for mitochondrial disorders. Genome Medicine. 1: 100. PMID 19852779 DOI: 10.1186/Gm100  0.679
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  0.688
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  0.649
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  0.671
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