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Items: 16


Whole-exome sequencing identifies rare variants in ATP8B4 as a risk factor for systemic sclerosis.

Gao L, Emond MJ, Louie T, Cheadle C, Berger AE, Rafaels N, Vergara C, Kim Y, Taub MA, Ruczinski I, Mathai SC, Rich SS, Nickerson DA, Hummers LK, Bamshad MJ, Hassoun PM, Mathias RA; National Heart, Lung, and Blood Institute (NHLBI) GO Exome Sequencing Project, Barnes KC.

Arthritis Rheumatol. 2015 Oct 16. doi: 10.1002/art.39449. [Epub ahead of print]


Identification of functional variants for cleft lip with or without cleft palate in or near PAX7, FGFR2, and NOG by targeted sequencing of GWAS loci.

Leslie EJ, Taub MA, Liu H, Steinberg KM, Koboldt DC, Zhang Q, Carlson JC, Hetmanski JB, Wang H, Larson DE, Fulton RS, Kousa YA, Fakhouri WD, Naji A, Ruczinski I, Begum F, Parker MM, Busch T, Standley J, Rigdon J, Hecht JT, Scott AF, Wehby GL, Christensen K, Czeizel AE, Deleyiannis FW, Schutte BC, Wilson RK, Cornell RA, Lidral AC, Weinstock GM, Beaty TH, Marazita ML, Murray JC.

Am J Hum Genet. 2015 Mar 5;96(3):397-411. doi: 10.1016/j.ajhg.2015.01.004. Epub 2015 Feb 19.


Analytic power and sample size calculation for the genotypic transmission/disequilibrium test in case-parent trio studies.

Neumann C, Taub MA, Younkin SG, Beaty TH, Ruczinski I, Schwender H.

Biom J. 2014 Nov;56(6):1076-92. doi: 10.1002/bimj.201300148. Epub 2014 Aug 14.


Detecting disease variants in case-parent trio studies using the bioconductor software package trio.

Schwender H, Li Q, Neumann C, Taub MA, Younkin SG, Berger P, Scharpf RB, Beaty TH, Ruczinski I.

Genet Epidemiol. 2014 Sep;38(6):516-22. doi: 10.1002/gepi.21836. Epub 2014 Jul 21.


Whole exome sequencing of distant relatives in multiplex families implicates rare variants in candidate genes for oral clefts.

Bureau A, Parker MM, Ruczinski I, Taub MA, Marazita ML, Murray JC, Mangold E, Noethen MM, Ludwig KU, Hetmanski JB, Bailey-Wilson JE, Cropp CD, Li Q, Szymczak S, Albacha-Hejazi H, Alqosayer K, Field LL, Wu-Chou YH, Doheny KF, Ling H, Scott AF, Beaty TH.

Genetics. 2014 Jul;197(3):1039-44. doi: 10.1534/genetics.114.165225. Epub 2014 May 2.


On multi-marker tests for association in case-control studies.

Taub MA, Schwender HR, Younkin SG, Louis TA, Ruczinski I.

Front Genet. 2013 Dec 16;4:252. doi: 10.3389/fgene.2013.00252. eCollection 2013.


Measuring cell-type specific differential methylation in human brain tissue.

MontaƱo CM, Irizarry RA, Kaufmann WE, Talbot K, Gur RE, Feinberg AP, Taub MA.

Genome Biol. 2013 Aug 30;14(8):R94. doi: 10.1186/gb-2013-14-8-r94.


Confirming genes influencing risk to cleft lip with/without cleft palate in a case-parent trio study.

Beaty TH, Taub MA, Scott AF, Murray JC, Marazita ML, Schwender H, Parker MM, Hetmanski JB, Balakrishnan P, Mansilla MA, Mangold E, Ludwig KU, Noethen MM, Rubini M, Elcioglu N, Ruczinski I.

Hum Genet. 2013 Jul;132(7):771-81. doi: 10.1007/s00439-013-1283-6. Epub 2013 Mar 20.


A statistical approach to selecting and confirming validation targets in -omics experiments.

Leek JT, Taub MA, Rasgon JL.

BMC Bioinformatics. 2012 Jun 27;13:150.


Incorporating genotype uncertainties into the genotypic TDT for main effects and gene-environment interactions.

Taub MA, Schwender H, Beaty TH, Louis TA, Ruczinski I.

Genet Epidemiol. 2012 Apr;36(3):225-34. doi: 10.1002/gepi.21615.


Examining markers in 8q24 to explain differences in evidence for association with cleft lip with/without cleft palate between Asians and Europeans.

Murray T, Taub MA, Ruczinski I, Scott AF, Hetmanski JB, Schwender H, Patel P, Zhang TX, Munger RG, Wilcox AJ, Ye X, Wang H, Wu T, Wu-Chou YH, Shi B, Jee SH, Chong S, Yeow V, Murray JC, Marazita ML, Beaty TH.

Genet Epidemiol. 2012 May;36(4):392-9. doi: 10.1002/gepi.21633. Epub 2012 Apr 16.


Rapid testing of SNPs and gene-environment interactions in case-parent trio data based on exact analytic parameter estimation.

Schwender H, Taub MA, Beaty TH, Marazita ML, Ruczinski I.

Biometrics. 2012 Sep;68(3):766-73. doi: 10.1111/j.1541-0420.2011.01713.x. Epub 2011 Dec 7.


Cooperation between referees and authors increases peer review accuracy.

Leek JT, Taub MA, Pineda FJ.

PLoS One. 2011;6(11):e26895. doi: 10.1371/journal.pone.0026895. Epub 2011 Nov 9.


Effective detection of rare variants in pooled DNA samples using Cross-pool tailcurve analysis.

Niranjan TS, Adamczyk A, Bravo HC, Taub MA, Wheelan SJ, Irizarry R, Wang T.

Genome Biol. 2011 Sep 28;12(9):R93. doi: 10.1186/gb-2011-12-9-r93.


Overcoming bias and systematic errors in next generation sequencing data.

Taub MA, Corrada Bravo H, Irizarry RA.

Genome Med. 2010 Dec 10;2(12):87. doi: 10.1186/gm208.

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