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Items: 35


Spectrum of mutations in leiomyosarcomas identified by clinical targeted next-generation sequencing.

Lee PJ, Yoo NS, Hagemann IS, Pfeifer JD, Cottrell CE, Abel HJ, Duncavage EJ.

Exp Mol Pathol. 2017 Feb;102(1):156-161. doi: 10.1016/j.yexmp.2017.01.012. Epub 2017 Jan 14.


SVScore: an impact prediction tool for structural variation.

Ganel L, Abel HJ; FinMetSeq Consortium, Hall IM.

Bioinformatics. 2017 Apr 1;33(7):1083-1085. doi: 10.1093/bioinformatics/btw789.


In Silico Proficiency Testing for Clinical Next-Generation Sequencing.

Duncavage EJ, Abel HJ, Pfeifer JD.

J Mol Diagn. 2017 Jan;19(1):35-42. doi: 10.1016/j.jmoldx.2016.09.005. Epub 2016 Nov 15. Review.


A Model Study of In Silico Proficiency Testing for Clinical Next-Generation Sequencing.

Duncavage EJ, Abel HJ, Merker JD, Bodner JB, Zhao Q, Voelkerding KV, Pfeifer JD.

Arch Pathol Lab Med. 2016 Oct;140(10):1085-91. doi: 10.5858/arpa.2016-0194-CP. Epub 2016 Jul 7.


Candidate gene resequencing to identify rare, pedigree-specific variants influencing healthy aging phenotypes in the long life family study.

Druley TE, Wang L, Lin SJ, Lee JH, Zhang Q, Daw EW, Abel HJ, Chasnoff SE, Ramos EI, Levinson BT, Thyagarajan B, Newman AB, Christensen K, Mayeux R, Province MA.

BMC Geriatr. 2016 Apr 9;16:80. doi: 10.1186/s12877-016-0253-y.


Occult Specimen Contamination in Routine Clinical Next-Generation Sequencing Testing.

Sehn JK, Spencer DH, Pfeifer JD, Bredemeyer AJ, Cottrell CE, Abel HJ, Duncavage EJ.

Am J Clin Pathol. 2015 Oct;144(4):667-74. doi: 10.1309/AJCPR88WDJJLDMBN.


T-cell clonality assessment by next-generation sequencing improves detection sensitivity in mycosis fungoides.

Sufficool KE, Lockwood CM, Abel HJ, Hagemann IS, Schumacher JA, Kelley TW, Duncavage EJ.

J Am Acad Dermatol. 2015 Aug;73(2):228-36.e2. doi: 10.1016/j.jaad.2015.04.030. Epub 2015 Jun 3.


Whole Exome Sequencing Reveals the Order of Genetic Changes during Malignant Transformation and Metastasis in a Single Patient with NF1-plexiform Neurofibroma.

Hirbe AC, Dahiya S, Miller CA, Li T, Fulton RS, Zhang X, McDonald S, DeSchryver K, Duncavage EJ, Walrath J, Reilly KM, Abel HJ, Pekmezci M, Perry A, Ley TJ, Gutmann DH.

Clin Cancer Res. 2015 Sep 15;21(18):4201-11. doi: 10.1158/1078-0432.CCR-14-3049. Epub 2015 Apr 29.


A wide spectrum of EGFR mutations in glioblastoma is detected by a single clinical oncology targeted next-generation sequencing panel.

Cimino PJ, Bredemeyer A, Abel HJ, Duncavage EJ.

Exp Mol Pathol. 2015 Jun;98(3):568-73. doi: 10.1016/j.yexmp.2015.04.006. Epub 2015 Apr 22.


Admixture mapping identifies a quantitative trait locus associated with FEV1/FVC in the COPDGene Study.

Parker MM, Foreman MG, Abel HJ, Mathias RA, Hetmanski JB, Crapo JD, Silverman EK, Beaty TH; COPDGene Investigators.

Genet Epidemiol. 2014 Nov;38(7):652-9. doi: 10.1002/gepi.21847. Epub 2014 Aug 11.


Copy number variants in clinical next-generation sequencing data can define the relationship between simultaneous tumors in an individual patient.

Sehn JK, Abel HJ, Duncavage EJ.

Exp Mol Pathol. 2014 Aug;97(1):69-73. doi: 10.1016/j.yexmp.2014.05.008. Epub 2014 Jun 2.


Detection of gene rearrangements in targeted clinical next-generation sequencing.

Abel HJ, Al-Kateb H, Cottrell CE, Bredemeyer AJ, Pritchard CC, Grossmann AH, Wallander ML, Pfeifer JD, Lockwood CM, Duncavage EJ.

J Mol Diagn. 2014 Jul;16(4):405-17. doi: 10.1016/j.jmoldx.2014.03.006. Epub 2014 May 9.


Retinoblastoma gene mutations detected by whole exome sequencing of Merkel cell carcinoma.

Cimino PJ, Robirds DH, Tripp SR, Pfeifer JD, Abel HJ, Duncavage EJ.

Mod Pathol. 2014 Aug;27(8):1073-87. doi: 10.1038/modpathol.2013.235. Epub 2014 Jan 10.


Detection of structural DNA variation from next generation sequencing data: a review of informatic approaches.

Abel HJ, Duncavage EJ.

Cancer Genet. 2013 Dec;206(12):432-40. doi: 10.1016/j.cancergen.2013.11.002. Epub 2013 Nov 20. Review.


Validation of a next-generation sequencing assay for clinical molecular oncology.

Cottrell CE, Al-Kateb H, Bredemeyer AJ, Duncavage EJ, Spencer DH, Abel HJ, Lockwood CM, Hagemann IS, O'Guin SM, Burcea LC, Sawyer CS, Oschwald DM, Stratman JL, Sher DA, Johnson MR, Brown JT, Cliften PF, George B, McIntosh LD, Shrivastava S, Nguyen TT, Payton JE, Watson MA, Crosby SD, Head RD, Mitra RD, Nagarajan R, Kulkarni S, Seibert K, Virgin HW 4th, Milbrandt J, Pfeifer JD.

J Mol Diagn. 2014 Jan;16(1):89-105. doi: 10.1016/j.jmoldx.2013.10.002. Epub 2013 Nov 6.


Comparison of clinical targeted next-generation sequence data from formalin-fixed and fresh-frozen tissue specimens.

Spencer DH, Sehn JK, Abel HJ, Watson MA, Pfeifer JD, Duncavage EJ.

J Mol Diagn. 2013 Sep;15(5):623-33. doi: 10.1016/j.jmoldx.2013.05.004. Epub 2013 Jun 26.


Detection of FLT3 internal tandem duplication in targeted, short-read-length, next-generation sequencing data.

Spencer DH, Abel HJ, Lockwood CM, Payton JE, Szankasi P, Kelley TW, Kulkarni S, Pfeifer JD, Duncavage EJ.

J Mol Diagn. 2013 Jan;15(1):81-93. doi: 10.1016/j.jmoldx.2012.08.001. Epub 2012 Nov 14.


Shared genomic segment analysis: the power to find rare disease variants.

Knight S, Abo RP, Abel HJ, Neklason DW, Tuohy TM, Burt RW, Thomas A, Camp NJ.

Ann Hum Genet. 2012 Nov;76(6):500-9. doi: 10.1111/j.1469-1809.2012.00728.x. Epub 2012 Sep 19.


Targeted next generation sequencing of clinically significant gene mutations and translocations in leukemia.

Duncavage EJ, Abel HJ, Szankasi P, Kelley TW, Pfeifer JD.

Mod Pathol. 2012 Jun;25(6):795-804. doi: 10.1038/modpathol.2012.29. Epub 2012 Mar 16.


Case-control association testing by graphical modeling for the Genetic Analysis Workshop 17 mini-exome sequence data.

Abel HJ, Thomas A.

BMC Proc. 2011 Nov 29;5 Suppl 9:S62. doi: 10.1186/1753-6561-5-S9-S62.


Effect of linkage disequilibrium on the identification of functional variants.

Thomas A, Abel HJ, Di Y, Faye LL, Jin J, Liu J, Wu Z, Paterson AD.

Genet Epidemiol. 2011;35 Suppl 1:S115-9. doi: 10.1002/gepi.20660.


Hybrid capture and next-generation sequencing identify viral integration sites from formalin-fixed, paraffin-embedded tissue.

Duncavage EJ, Magrini V, Becker N, Armstrong JR, Demeter RT, Wylie T, Abel HJ, Pfeifer JD.

J Mol Diagn. 2011 May;13(3):325-33. doi: 10.1016/j.jmoldx.2011.01.006.


Accuracy and computational efficiency of a graphical modeling approach to linkage disequilibrium estimation.

Abel HJ, Thomas A.

Stat Appl Genet Mol Biol. 2011;10:Article 5. doi: 10.2202/1544-6115.1615. Epub 2011 Jan 6.


SLOPE: a quick and accurate method for locating non-SNP structural variation from targeted next-generation sequence data.

Abel HJ, Duncavage EJ, Becker N, Armstrong JR, Magrini VJ, Pfeifer JD.

Bioinformatics. 2010 Nov 1;26(21):2684-8. doi: 10.1093/bioinformatics/btq528. Epub 2010 Sep 27.


Fiber-related digestive processes in three different breeds of pigs.

von Heimendahl E, Breves G, Abel HJ.

J Anim Sci. 2010 Mar;88(3):972-81. doi: 10.2527/jas.2009-2370. Epub 2009 Nov 20.


Influence of dietary non-essential amino acid profile on growth performance and amino acid metabolism of Nile tilapia, Oreochromis niloticus (L.).

Gaye-Siessegger J, Focken U, Abel H, Becker K.

Comp Biochem Physiol A Mol Integr Physiol. 2007 Jan;146(1):71-7. Epub 2006 Oct 27.


Improving estimates of trophic shift in Nile tilapia, Oreochromis niloticus (L.), using measurements of lipogenic enzyme activities in the liver.

Gaye-Siessegger J, Focken U, Abel HJ, Becker K.

Comp Biochem Physiol A Mol Integr Physiol. 2005 Jan;140(1):117-24.


Relationships between intracellular calcium and afterhyperpolarizations in neocortical pyramidal neurons.

Abel HJ, Lee JC, Callaway JC, Foehring RC.

J Neurophysiol. 2004 Jan;91(1):324-35. Epub 2003 Aug 13.


Feeding level and diet quality influence trophic shift of C and N isotopes in Nile tilapia (Oreochromis niloticus (L.)).

Gaye-Siessegger J, Focken U, Abel HJ, Becker K.

Isotopes Environ Health Stud. 2003 Jun;39(2):125-34.


Consequences of the ban of by-products from terrestrial animals in livestock feeding in Germany and the European Union: alternatives, nutrient and energy cycles, plant production, and economic aspects.

Rodehutscord M, Abel HJ, Friedt W, Wenk C, Flachowsky G, Ahlgrimm HJ, Johnke B, Kühl R, Breves G.

Arch Tierernahr. 2002 Apr;56(2):67-91. Review.


Retinal pigment epithelium of the rat express CD81, the target of the anti-proliferative antibody (TAPA).

Geisert EE Jr, Abel HJ, Fan L, Geisert GR.

Invest Ophthalmol Vis Sci. 2002 Jan;43(1):274-80.


[Effect of various nutritional energy sources on ruminal and carcass lipid composition in fattening bulls].

Abel HJ, Molnar S, Günther K.

Z Tierphysiol Tierernahr Futtermittelkd. 1975 Jan;34(3):170-8. German. No abstract available.


[Role of liver lipogenesis of growing rats and fattening chickens. 4. Metabolic pathways of glucose in lipogenetic active liver of rats and fattening chickens].

Abel HJ, Rosenow H, Molnar S.

Z Tierphysiol Tierernahr Futtermittelkd. 1975 Jan;34(3):135-40. German. No abstract available.


[Role of liver in lipogenesis of growing rats and fattening chickens. 3. Enzyme activities in lipid and carbohydrate metabolism in rat and chicken liver].

Abel HJ, Rosenow H, Molnar S.

Z Tierphysiol Tierernahr Futtermittelkd. 1975 Jan;34(3):129-34. German. No abstract available.


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