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Items: 25


A novel FAS mutation with variable expressivity in a family with unicentric and idiopathic multicentric Castleman disease.

Baker TS, Gambino KJ, Schriefer L, Lim JY, Steinberg KM, Fajgenbaum DC, Martín García-Sancho A, Byun M.

Blood Adv. 2018 Nov 13;2(21):2959-2963. doi: 10.1182/bloodadvances.2018023911. No abstract available.


Corrigendum: Discovery and genotyping of structural variation from long-read haploid genome sequence data.

Huddleston J, Chaisson MJP, Steinberg KM, Warren W, Hoekzema K, Gordon D, Graves-Lindsay TA, Munson KM, Kronenberg ZN, Vives L, Peluso P, Boitano M, Chin CS, Korlach J, Wilson RK, Eichler EE.

Genome Res. 2018 Jan;28(1):144. doi: 10.1101/gr.233007.117. No abstract available.


Influence of Different Isolation Methods on Chemical Composition and Bioactivities of the Fruit Peel Oil of Citrus medica L. var. sarcodactylis (Noot.) Swingle.

Deng G, Craft JD, Steinberg KM, Li PL, Pokharel SK, Setzer WN.

Medicines (Basel). 2017 Jan 4;4(1). pii: E1. doi: 10.3390/medicines4010001.


Evaluation of GRCh38 and de novo haploid genome assemblies demonstrates the enduring quality of the reference assembly.

Schneider VA, Graves-Lindsay T, Howe K, Bouk N, Chen HC, Kitts PA, Murphy TD, Pruitt KD, Thibaud-Nissen F, Albracht D, Fulton RS, Kremitzki M, Magrini V, Markovic C, McGrath S, Steinberg KM, Auger K, Chow W, Collins J, Harden G, Hubbard T, Pelan S, Simpson JT, Threadgold G, Torrance J, Wood JM, Clarke L, Koren S, Boitano M, Peluso P, Li H, Chin CS, Phillippy AM, Durbin R, Wilson RK, Flicek P, Eichler EE, Church DM.

Genome Res. 2017 May;27(5):849-864. doi: 10.1101/gr.213611.116. Epub 2017 Apr 10.


Cytotoxic and Antileishmanial Components from the Bark Extract of Ruyschiaphylladenia from Monteverde, Costa Rica.

Steinberg KM, Shrestha S, Dosoky NS, Monzote L, Piñón A, Haber WA, Setzer WN.

Nat Prod Commun. 2017 Jan;12(1):1-2.


Discovery and genotyping of structural variation from long-read haploid genome sequence data.

Huddleston J, Chaisson MJP, Steinberg KM, Warren W, Hoekzema K, Gordon D, Graves-Lindsay TA, Munson KM, Kronenberg ZN, Vives L, Peluso P, Boitano M, Chin CS, Korlach J, Wilson RK, Eichler EE.

Genome Res. 2017 May;27(5):677-685. doi: 10.1101/gr.214007.116. Epub 2016 Nov 28. Erratum in: Genome Res. 2018 Jan;28(1):144.


Antileishmanial Activity of Compounds Isolated from Sassafras albidum.

Pulivarthi D, Steinberg KM, Monzote L, Piñón A, Setzer WN.

Nat Prod Commun. 2015 Jul;10(7):1229-30.


Exome sequencing of case-unaffected-parents trios reveals recessive and de novo genetic variants in sporadic ALS.

Steinberg KM, Yu B, Koboldt DC, Mardis ER, Pamphlett R.

Sci Rep. 2015 Mar 16;5:9124. doi: 10.1038/srep09124.


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.


Extending reference assembly models.

Church DM, Schneider VA, Steinberg KM, Schatz MC, Quinlan AR, Chin CS, Kitts PA, Aken B, Marth GT, Hoffman MM, Herrero J, Mendoza ML, Durbin R, Flicek P.

Genome Biol. 2015 Jan 24;16:13. doi: 10.1186/s13059-015-0587-3.


Single haplotype assembly of the human genome from a hydatidiform mole.

Steinberg KM, Schneider VA, Graves-Lindsay TA, Fulton RS, Agarwala R, Huddleston J, Shiryev SA, Morgulis A, Surti U, Warren WC, Church DM, Eichler EE, Wilson RK.

Genome Res. 2014 Dec;24(12):2066-76. doi: 10.1101/gr.180893.114. Epub 2014 Nov 4.


Sequencing of the human IG light chain loci from a hydatidiform mole BAC library reveals locus-specific signatures of genetic diversity.

Watson CT, Steinberg KM, Graves TA, Warren RL, Malig M, Schein J, Wilson RK, Holt RA, Eichler EE, Breden F.

Genes Immun. 2015 Jan-Feb;16(1):24-34. doi: 10.1038/gene.2014.56. Epub 2014 Oct 23.


Palindromic GOLGA8 core duplicons promote chromosome 15q13.3 microdeletion and evolutionary instability.

Antonacci F, Dennis MY, Huddleston J, Sudmant PH, Steinberg KM, Rosenfeld JA, Miroballo M, Graves TA, Vives L, Malig M, Denman L, Raja A, Stuart A, Tang J, Munson B, Shaffer LG, Amemiya CT, Wilson RK, Eichler EE.

Nat Genet. 2014 Dec;46(12):1293-302. doi: 10.1038/ng.3120. Epub 2014 Oct 19.


Exome-based mapping and variant prioritization for inherited Mendelian disorders.

Koboldt DC, Larson DE, Sullivan LS, Bowne SJ, Steinberg KM, Churchill JD, Buhr AC, Nutter N, Pierce EA, Blanton SH, Weinstock GM, Wilson RK, Daiger SP.

Am J Hum Genet. 2014 Mar 6;94(3):373-84. doi: 10.1016/j.ajhg.2014.01.016. Epub 2014 Feb 20.


The next-generation sequencing revolution and its impact on genomics.

Koboldt DC, Steinberg KM, Larson DE, Wilson RK, Mardis ER.

Cell. 2013 Sep 26;155(1):27-38. doi: 10.1016/j.cell.2013.09.006. Review.


Complete haplotype sequence of the human immunoglobulin heavy-chain variable, diversity, and joining genes and characterization of allelic and copy-number variation.

Watson CT, Steinberg KM, Huddleston J, Warren RL, Malig M, Schein J, Willsey AJ, Joy JB, Scott JK, Graves TA, Wilson RK, Holt RA, Eichler EE, Breden F.

Am J Hum Genet. 2013 Apr 4;92(4):530-46. doi: 10.1016/j.ajhg.2013.03.004. Epub 2013 Mar 28.


Genomic pathology of SLE-associated copy-number variation at the FCGR2C/FCGR3B/FCGR2B locus.

Mueller M, Barros P, Witherden AS, Roberts AL, Zhang Z, Schaschl H, Yu CY, Hurles ME, Schaffner C, Floto RA, Game L, Steinberg KM, Wilson RK, Graves TA, Eichler EE, Cook HT, Vyse TJ, Aitman TJ.

Am J Hum Genet. 2013 Jan 10;92(1):28-40. doi: 10.1016/j.ajhg.2012.11.013. Epub 2012 Dec 20.


Identification of rare X-linked neuroligin variants by massively parallel sequencing in males with autism spectrum disorder.

Steinberg KM, Ramachandran D, Patel VC, Shetty AC, Cutler DJ, Zwick ME.

Mol Autism. 2012 Sep 28;3(1):8. doi: 10.1186/2040-2392-3-8.


Structural diversity and African origin of the 17q21.31 inversion polymorphism.

Steinberg KM, Antonacci F, Sudmant PH, Kidd JM, Campbell CD, Vives L, Malig M, Scheinfeldt L, Beggs W, Ibrahim M, Lema G, Nyambo TB, Omar SA, Bodo JM, Froment A, Donnelly MP, Kidd KK, Tishkoff SA, Eichler EE.

Nat Genet. 2012 Jul 1;44(8):872-80. doi: 10.1038/ng.2335.


Resolving the breakpoints of the 17q21.31 microdeletion syndrome with next-generation sequencing.

Itsara A, Vissers LE, Steinberg KM, Meyer KJ, Zody MC, Koolen DA, de Ligt J, Cuppen E, Baker C, Lee C, Graves TA, Wilson RK, Jenkins RB, Veltman JA, Eichler EE.

Am J Hum Genet. 2012 Apr 6;90(4):599-613. doi: 10.1016/j.ajhg.2012.02.013.


SeqAnt: a web service to rapidly identify and annotate DNA sequence variations.

Shetty AC, Athri P, Mondal K, Horner VL, Steinberg KM, Patel V, Caspary T, Cutler DJ, Zwick ME.

BMC Bioinformatics. 2010 Sep 20;11:471. doi: 10.1186/1471-2105-11-471.


Combining microarray-based genomic selection (MGS) with the Illumina Genome Analyzer platform to sequence diploid target regions.

Okou DT, Locke AE, Steinberg KM, Hagen K, Athri P, Shetty AC, Patel V, Zwick ME.

Ann Hum Genet. 2009 Sep;73(Pt 5):502-13. doi: 10.1111/j.1469-1809.2009.00530.x. Epub 2009 Jul 1.


Applying rapid genome sequencing technologies to characterize pathogen genomes.

Steinberg KM, Okou DT, Zwick ME.

Anal Chem. 2008 Feb 1;80(3):520-8. No abstract available.


Microarray-based genomic selection for high-throughput resequencing.

Okou DT, Steinberg KM, Middle C, Cutler DJ, Albert TJ, Zwick ME.

Nat Methods. 2007 Nov;4(11):907-9. Epub 2007 Oct 14.


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