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Items: 27

1.

Diagnostic utility of exome sequencing in the evaluation of neuromuscular disorders.

Haskell GT, Adams MC, Fan Z, Amin K, Guzman Badillo RJ, Zhou L, Bizon C, Chahin N, Greenwood RS, Milko LV, Shiloh-Malawsky Y, Crooks KR, Strande N, Tennison M, Tilley CR, Brandt A, Wilhelmsen KC, Weck K, Evans JP, Berg JS.

Neurol Genet. 2018 Feb 1;4(1):e212. doi: 10.1212/NXG.0000000000000212. eCollection 2018 Feb.

2.

Prenatal exome sequencing in anomalous fetuses: new opportunities and challenges.

Vora NL, Powell B, Brandt A, Strande N, Hardisty E, Gilmore K, Foreman AKM, Wilhelmsen K, Bizon C, Reilly J, Owen P, Powell CM, Skinner D, Rini C, Lyerly AD, Boggess KA, Weck K, Berg JS, Evans JP.

Genet Med. 2017 Nov;19(11):1207-1216. doi: 10.1038/gim.2017.33. Epub 2017 May 18.

3.

Genome-wide meta-analysis identifies a novel susceptibility signal at CACNA2D3 for nicotine dependence.

Yin X, Bizon C, Tilson J, Lin Y, Gizer IR, Ehlers CL, Wilhelmsen KC.

Am J Med Genet B Neuropsychiatr Genet. 2017 Apr 25. doi: 10.1002/ajmg.b.32540. [Epub ahead of print]

PMID:
28440896
4.

Whole genome sequence study of cannabis dependence in two independent cohorts.

Gizer IR, Bizon C, Gilder DA, Ehlers CL, Wilhelmsen KC.

Addict Biol. 2018 Jan;23(1):461-473. doi: 10.1111/adb.12489. Epub 2017 Jan 23.

PMID:
28111843
5.

ClinGen Pathogenicity Calculator: a configurable system for assessing pathogenicity of genetic variants.

Patel RY, Shah N, Jackson AR, Ghosh R, Pawliczek P, Paithankar S, Baker A, Riehle K, Chen H, Milosavljevic S, Bizon C, Rynearson S, Nelson T, Jarvik GP, Rehm HL, Harrison SM, Azzariti D, Powell B, Babb L, Plon SE, Milosavljevic A; ClinGen Resource.

Genome Med. 2017 Jan 12;9(1):3. doi: 10.1186/s13073-016-0391-z.

6.

Polygenic risk scores for cigarettes smoked per day do not generalize to a Native American population.

Otto JM, Gizer IR, Bizon C, Wilhelmsen KC, Ehlers CL.

Drug Alcohol Depend. 2016 Oct 1;167:95-102. doi: 10.1016/j.drugalcdep.2016.07.029. Epub 2016 Aug 10.

7.

Single nucleotide polymorphisms in the REG-CTNNA2 region of chromosome 2 and NEIL3 associated with impulsivity in a Native American sample.

Ehlers CL, Gizer IR, Bizon C, Slutske W, Peng Q, Schork NJ, Wilhelmsen KC.

Genes Brain Behav. 2016 Jul;15(6):568-77. doi: 10.1111/gbb.12297. Epub 2016 Jun 1.

8.

Germline Analysis from Tumor-Germline Sequencing Dyads to Identify Clinically Actionable Secondary Findings.

Seifert BA, O'Daniel JM, Amin K, Marchuk DS, Patel NM, Parker JS, Hoyle AP, Mose LE, Marron A, Hayward MC, Bizon C, Wilhelmsen KC, Evans JP, Earp HS 3rd, Sharpless NE, Hayes DN, Berg JS.

Clin Cancer Res. 2016 Aug 15;22(16):4087-4094. doi: 10.1158/1078-0432.CCR-16-0015. Epub 2016 Apr 15.

9.

High Diagnostic Yield of Whole Exome Sequencing in Participants With Retinal Dystrophies in a Clinical Ophthalmology Setting.

Lee K, Berg JS, Milko L, Crooks K, Lu M, Bizon C, Owen P, Wilhelmsen KC, Weck KE, Evans JP, Garg S.

Am J Ophthalmol. 2015 Aug;160(2):354-363.e9. doi: 10.1016/j.ajo.2015.04.026. Epub 2015 Apr 22.

10.

Association and ancestry analysis of sequence variants in ADH and ALDH using alcohol-related phenotypes in a Native American community sample.

Peng Q, Gizer IR, Libiger O, Bizon C, Wilhelmsen KC, Schork NJ, Ehlers CL.

Am J Med Genet B Neuropsychiatr Genet. 2014 Dec;165B(8):673-83. doi: 10.1002/ajmg.b.32272. Epub 2014 Sep 30.

11.

Whole-exome sequencing identifies rare and low-frequency coding variants associated with LDL cholesterol.

Lange LA, Hu Y, Zhang H, Xue C, Schmidt EM, Tang ZZ, Bizon C, Lange EM, Smith JD, Turner EH, Jun G, Kang HM, Peloso G, Auer P, Li KP, Flannick J, Zhang J, Fuchsberger C, Gaulton K, Lindgren C, Locke A, Manning A, Sim X, Rivas MA, Holmen OL, Gottesman O, Lu Y, Ruderfer D, Stahl EA, Duan Q, Li Y, Durda P, Jiao S, Isaacs A, Hofman A, Bis JC, Correa A, Griswold ME, Jakobsdottir J, Smith AV, Schreiner PJ, Feitosa MF, Zhang Q, Huffman JE, Crosby J, Wassel CL, Do R, Franceschini N, Martin LW, Robinson JG, Assimes TL, Crosslin DR, Rosenthal EA, Tsai M, Rieder MJ, Farlow DN, Folsom AR, Lumley T, Fox ER, Carlson CS, Peters U, Jackson RD, van Duijn CM, Uitterlinden AG, Levy D, Rotter JI, Taylor HA, Gudnason V Jr, Siscovick DS, Fornage M, Borecki IB, Hayward C, Rudan I, Chen YE, Bottinger EP, Loos RJ, Sætrom P, Hveem K, Boehnke M, Groop L, McCarthy M, Meitinger T, Ballantyne CM, Gabriel SB, O'Donnell CJ, Post WS, North KE, Reiner AP, Boerwinkle E, Psaty BM, Altshuler D, Kathiresan S, Lin DY, Jarvik GP, Cupples LA, Kooperberg C, Wilson JG, Nickerson DA, Abecasis GR, Rich SS, Tracy RP, Willer CJ; NHLBI Grand Opportunity Exome Sequencing Project.

Am J Hum Genet. 2014 Feb 6;94(2):233-45. doi: 10.1016/j.ajhg.2014.01.010.

12.

Variant calling in low-coverage whole genome sequencing of a Native American population sample.

Bizon C, Spiegel M, Chasse SA, Gizer IR, Li Y, Malc EP, Mieczkowski PA, Sailsbery JK, Wang X, Ehlers CL, Wilhelmsen KC.

BMC Genomics. 2014 Jan 30;15:85. doi: 10.1186/1471-2164-15-85.

13.

Imputation of coding variants in African Americans: better performance using data from the exome sequencing project.

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, Curtis K, Wassel CL, Robinson JG, Martin LW, Haiman CA, Le Marchand L, Matise TC, Hindorff LA, Crawford DC, Assimes TL, Kang HM, Heiss G, Jackson RD, Kooperberg C, Wilson JG, Abecasis GR, North KE, Nickerson DA, Lange LA, Li Y.

Bioinformatics. 2013 Nov 1;29(21):2744-9. doi: 10.1093/bioinformatics/btt477. Epub 2013 Aug 16.

14.

An informatics approach to analyzing the incidentalome.

Berg JS, Adams M, Nassar N, Bizon C, Lee K, Schmitt CP, Wilhelmsen KC, Evans JP.

Genet Med. 2013 Jan;15(1):36-44. doi: 10.1038/gim.2012.112. Epub 2012 Sep 20.

15.

[Mini-spirometry: a relevant tool for the screening of COPD in general practice?].

Perez T, Bizon C.

Rev Mal Respir. 2012 Sep;29(7):853-5. doi: 10.1016/j.rmr.2012.07.004. Epub 2012 Aug 16. French. No abstract available.

PMID:
22980544
16.

ReQON: a Bioconductor package for recalibrating quality scores from next-generation sequencing data.

Cabanski CR, Cavin K, Bizon C, Wilkerson MD, Parker JS, Wilhelmsen KC, Perou CM, Marron JS, Hayes DN.

BMC Bioinformatics. 2012 Sep 4;13:221.

17.

Germline mutations in HOXB13 and prostate-cancer risk.

Ewing CM, Ray AM, Lange EM, Zuhlke KA, Robbins CM, Tembe WD, Wiley KE, Isaacs SD, Johng D, Wang Y, Bizon C, Yan G, Gielzak M, Partin AW, Shanmugam V, Izatt T, Sinari S, Craig DW, Zheng SL, Walsh PC, Montie JE, Xu J, Carpten JD, Isaacs WB, Cooney KA.

N Engl J Med. 2012 Jan 12;366(2):141-9. doi: 10.1056/NEJMoa1110000.

18.

Patient electronic health data-driven approach to clinical decision support.

Mane KK, Bizon C, Owen P, Gersing K, Mostafa J, Schmitt C.

Clin Transl Sci. 2011 Oct;4(5):369-71. doi: 10.1111/j.1752-8062.2011.00324.x.

19.

VisualDecisionLinc: a visual analytics approach for comparative effectiveness-based clinical decision support in psychiatry.

Mane KK, Bizon C, Schmitt C, Owen P, Burchett B, Pietrobon R, Gersing K.

J Biomed Inform. 2012 Feb;45(1):101-6. doi: 10.1016/j.jbi.2011.09.003. Epub 2011 Sep 20.

20.

Next generation massively parallel sequencing of targeted exomes to identify genetic mutations in primary ciliary dyskinesia: implications for application to clinical testing.

Berg JS, Evans JP, Leigh MW, Omran H, Bizon C, Mane K, Knowles MR, Weck KE, Zariwala MA.

Genet Med. 2011 Mar;13(3):218-29. doi: 10.1097/GIM.0b013e318203cff2.

21.

Pre-calculated protein structure alignments at the RCSB PDB website.

Prlic A, Bliven S, Rose PW, Bluhm WF, Bizon C, Godzik A, Bourne PE.

Bioinformatics. 2010 Dec 1;26(23):2983-5. doi: 10.1093/bioinformatics/btq572. Epub 2010 Oct 10.

22.

Linear stability analysis of a vertically oscillated granular layer.

Bizon C, Shattuck MD, Swift JB.

Phys Rev E Stat Phys Plasmas Fluids Relat Interdiscip Topics. 1999 Dec;60(6 Pt B):7210-6.

PMID:
11970664
23.

Transport coefficients for granular media from molecular dynamics simulations.

Bizon C, Shattuck MD, Swift JB, Swinney HL.

Phys Rev E Stat Phys Plasmas Fluids Relat Interdiscip Topics. 1999 Oct;60(4 Pt B):4340-51.

PMID:
11970288
24.

Instability of the Kolmogorov flow in a soap film.

Burgess JM, Bizon C, McCormick WD, Swift JB, Swinney HL.

Phys Rev E Stat Phys Plasmas Fluids Relat Interdiscip Topics. 1999 Jul;60(1):715-21.

PMID:
11969812
25.

Shocks in supersonic sand.

Rericha EC, Bizon C, Shattuck MD, Swinney HL.

Phys Rev Lett. 2002 Jan 7;88(1):014302. Epub 2001 Dec 17.

PMID:
11800951
26.

Phase bubbles and spatiotemporal chaos in granular patterns.

Moon SJ, Shattuck MD, Bizon C, Goldman DI, Swift JB, Swinney HL.

Phys Rev E Stat Nonlin Soft Matter Phys. 2002 Jan;65(1 Pt 1):011301. Epub 2001 Dec 4.

PMID:
11800687
27.

Plume dynamics in quasi-2D turbulent convection.

Bizon C, Werne J, Predtechensky AA, Julien K, McCormick WD, Swift JB, Swinney HL.

Chaos. 1997 Mar;7(1):107-124.

PMID:
12779641

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