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Items: 1 to 50 of 75

1.

Evaluation of Mass Cytometry in the Clinical Laboratory.

Ravkov EV, Charlton CM, Barker AP, Hill H, Peterson LK, Slev P, Tebo A, Voelkerding KV, Wittwer CT, Heikal N, Delgado JC, Lázár-Molnár E, Kumánovics A.

Cytometry B Clin Cytom. 2019 Jul;96(4):266-274. doi: 10.1002/cyto.b.21791. Epub 2019 Jun 7.

PMID:
31173473
2.

Novel PLP1 Mutations Identified With Next-Generation Sequencing Expand the Spectrum of PLP1-Associated Leukodystrophy Clinical Phenotypes.

Margraf RL, Durtschi J, Krock B, Newcomb TM, Bonkowsky JL, Voelkerding KV, Bayrak-Toydemir P, Lutz RE, Swoboda KJ.

Child Neurol Open. 2018 Jul 23;5:2329048X18789282. doi: 10.1177/2329048X18789282. eCollection 2018.

3.

Ikaros family zinc finger 1 regulates dendritic cell development and function in humans.

Cytlak U, Resteu A, Bogaert D, Kuehn HS, Altmann T, Gennery A, Jackson G, Kumanovics A, Voelkerding KV, Prader S, Dullaers M, Reichenbach J, Hill H, Haerynck F, Rosenzweig SD, Collin M, Bigley V.

Nat Commun. 2018 Mar 27;9(1):1239. doi: 10.1038/s41467-018-02977-8.

4.

Standards and Guidelines for Validating Next-Generation Sequencing Bioinformatics Pipelines: A Joint Recommendation of the Association for Molecular Pathology and the College of American Pathologists.

Roy S, Coldren C, Karunamurthy A, Kip NS, Klee EW, Lincoln SE, Leon A, Pullambhatla M, Temple-Smolkin RL, Voelkerding KV, Wang C, Carter AB.

J Mol Diagn. 2018 Jan;20(1):4-27. doi: 10.1016/j.jmoldx.2017.11.003. Epub 2017 Nov 21. Review.

PMID:
29154853
5.

Development and Validation of Clinical Whole-Exome and Whole-Genome Sequencing for Detection of Germline Variants in Inherited Disease.

Hegde M, Santani A, Mao R, Ferreira-Gonzalez A, Weck KE, Voelkerding KV.

Arch Pathol Lab Med. 2017 Jun;141(6):798-805. doi: 10.5858/arpa.2016-0622-RA. Epub 2017 Mar 31.

PMID:
28362156
6.

Guidelines for Validation of Next-Generation Sequencing-Based Oncology Panels: A Joint Consensus Recommendation of the Association for Molecular Pathology and College of American Pathologists.

Jennings LJ, Arcila ME, Corless C, Kamel-Reid S, Lubin IM, Pfeifer J, Temple-Smolkin RL, Voelkerding KV, Nikiforova MN.

J Mol Diagn. 2017 May;19(3):341-365. doi: 10.1016/j.jmoldx.2017.01.011. Epub 2017 Mar 21. Review.

PMID:
28341590
7.

Development and Validation of Targeted Next-Generation Sequencing Panels for Detection of Germline Variants in Inherited Diseases.

Santani A, Murrell J, Funke B, Yu Z, Hegde M, Mao R, Ferreira-Gonzalez A, Voelkerding KV, Weck KE.

Arch Pathol Lab Med. 2017 Jun;141(6):787-797. doi: 10.5858/arpa.2016-0517-RA. Epub 2017 Mar 21.

PMID:
28322587
8.

Principles and Recommendations for Standardizing the Use of the Next-Generation Sequencing Variant File in Clinical Settings.

Lubin IM, Aziz N, Babb LJ, Ballinger D, Bisht H, Church DM, Cordes S, Eilbeck K, Hyland F, Kalman L, Landrum M, Lockhart ER, Maglott D, Marth G, Pfeifer JD, Rehm HL, Roy S, Tezak Z, Truty R, Ullman-Cullere M, Voelkerding KV, Worthey EA, Zaranek AW, Zook JM.

J Mol Diagn. 2017 May;19(3):417-426. doi: 10.1016/j.jmoldx.2016.12.001. Epub 2017 Mar 18.

9.

Normal hematologic parameters and fetal hemoglobin silencing with heterozygous IKZF1 mutations.

Abdulhay N, Fiorini C, Kumánovics A, Sun AA, Hansen-Rejali J, Voelkerding KV, Rosenzweig SD, Hill HR, Sankaran VG.

Blood. 2016 Oct 20;128(16):2100-2103. doi: 10.1182/blood-2016-08-731943. Epub 2016 Aug 31. No abstract available.

10.

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.

PMID:
27388684
11.

Taxonomer: an interactive metagenomics analysis portal for universal pathogen detection and host mRNA expression profiling.

Flygare S, Simmon K, Miller C, Qiao Y, Kennedy B, Di Sera T, Graf EH, Tardif KD, Kapusta A, Rynearson S, Stockmann C, Queen K, Tong S, Voelkerding KV, Blaschke A, Byington CL, Jain S, Pavia A, Ampofo K, Eilbeck K, Marth G, Yandell M, Schlaberg R.

Genome Biol. 2016 May 26;17(1):111. doi: 10.1186/s13059-016-0969-1.

12.

Loss of B Cells in Patients with Heterozygous Mutations in IKAROS.

Kuehn HS, Boisson B, Cunningham-Rundles C, Reichenbach J, Stray-Pedersen A, Gelfand EW, Maffucci P, Pierce KR, Abbott JK, Voelkerding KV, South ST, Augustine NH, Bush JS, Dolen WK, Wray BB, Itan Y, Cobat A, Sorte HS, Ganesan S, Prader S, Martins TB, Lawrence MG, Orange JS, Calvo KR, Niemela JE, Casanova JL, Fleisher TA, Hill HR, Kumánovics A, Conley ME, Rosenzweig SD.

N Engl J Med. 2016 Mar 17;374(11):1032-1043. doi: 10.1056/NEJMoa1512234.

13.

Good laboratory practice for clinical next-generation sequencing informatics pipelines.

Gargis AS, Kalman L, Bick DP, da Silva C, Dimmock DP, Funke BH, Gowrisankar S, Hegde MR, Kulkarni S, Mason CE, Nagarajan R, Voelkerding KV, Worthey EA, Aziz N, Barnes J, Bennett SF, Bisht H, Church DM, Dimitrova Z, Gargis SR, Hafez N, Hambuch T, Hyland FC, Luna RA, MacCannell D, Mann T, McCluskey MR, McDaniel TK, Ganova-Raeva LM, Rehm HL, Reid J, Campo DS, Resnick RB, Ridge PG, Salit ML, Skums P, Wong LJ, Zehnbauer BA, Zook JM, Lubin IM.

Nat Biotechnol. 2015 Jul;33(7):689-93. doi: 10.1038/nbt.3237. No abstract available.

14.

Design of a Genomics Curriculum: Competencies for Practicing Pathologists.

Laudadio J, McNeal JL, Boyd SD, Le LP, Lockwood C, McCloskey CB, Sharma G, Voelkerding KV, Haspel RL.

Arch Pathol Lab Med. 2015 Jul;139(7):894-900. doi: 10.5858/arpa.2014-0253-CP.

PMID:
26125429
15.

Identification of patients with RAG mutations previously diagnosed with common variable immunodeficiency disorders.

Buchbinder D, Baker R, Lee YN, Ravell J, Zhang Y, McElwee J, Nugent D, Coonrod EM, Durtschi JD, Augustine NH, Voelkerding KV, Csomos K, Rosen L, Browne S, Walter JE, Notarangelo LD, Hill HR, Kumánovics A.

J Clin Immunol. 2015 Feb;35(2):119-24. doi: 10.1007/s10875-014-0121-5. Epub 2014 Dec 17.

16.

Next-generation sequencing of custom amplicons to improve coverage of HaloPlex multigene panels.

Coonrod EM, Durtschi JD, VanSant Webb C, Voelkerding KV, Kumánovics A.

Biotechniques. 2014 Oct 1;57(4):204-7. doi: 10.2144/000114217. eCollection 2014 Oct.

17.

College of American Pathologists' laboratory standards for next-generation sequencing clinical tests.

Aziz N, Zhao Q, Bry L, Driscoll DK, Funke B, Gibson JS, Grody WW, Hegde MR, Hoeltge GA, Leonard DG, Merker JD, Nagarajan R, Palicki LA, Robetorye RS, Schrijver I, Weck KE, Voelkerding KV.

Arch Pathol Lab Med. 2015 Apr;139(4):481-93. doi: 10.5858/arpa.2014-0250-CP. Epub 2014 Aug 25.

PMID:
25152313
18.

A unified test of linkage analysis and rare-variant association for analysis of pedigree sequence data.

Hu H, Roach JC, Coon H, Guthery SL, Voelkerding KV, Margraf RL, Durtschi JD, Tavtigian SV, Shankaracharya, Wu W, Scheet P, Wang S, Xing J, Glusman G, Hubley R, Li H, Garg V, Moore B, Hood L, Galas DJ, Srivastava D, Reese MG, Jorde LB, Yandell M, Huff CD.

Nat Biotechnol. 2014 Jul;32(7):663-9. doi: 10.1038/nbt.2895. Epub 2014 May 18.

19.

Phevor combines multiple biomedical ontologies for accurate identification of disease-causing alleles in single individuals and small nuclear families.

Singleton MV, Guthery SL, Voelkerding KV, Chen K, Kennedy B, Margraf RL, Durtschi J, Eilbeck K, Reese MG, Jorde LB, Huff CD, Yandell M.

Am J Hum Genet. 2014 Apr 3;94(4):599-610. doi: 10.1016/j.ajhg.2014.03.010.

20.

Methods-based proficiency testing in molecular genetic pathology.

Schrijver I, Aziz N, Jennings LJ, Richards CS, Voelkerding KV, Weck KE.

J Mol Diagn. 2014 May;16(3):283-7. doi: 10.1016/j.jmoldx.2014.02.002. Epub 2014 Mar 18.

21.

VarBin, a novel method for classifying true and false positive variants in NGS data.

Durtschi J, Margraf RL, Coonrod EM, Mallempati KC, Voelkerding KV.

BMC Bioinformatics. 2013;14 Suppl 13:S2. doi: 10.1186/1471-2105-14-S13-S2. Epub 2013 Oct 1.

22.

A novel germline PIGA mutation in Ferro-Cerebro-Cutaneous syndrome: a neurodegenerative X-linked epileptic encephalopathy with systemic iron-overload.

Swoboda KJ, Margraf RL, Carey JC, Zhou H, Newcomb TM, Coonrod E, Durtschi J, Mallempati K, Kumanovics A, Katz BE, Voelkerding KV, Opitz JM.

Am J Med Genet A. 2014 Jan;164A(1):17-28. doi: 10.1002/ajmg.a.36189. Epub 2013 Nov 20.

23.

Germline mutations in NFKB2 implicate the noncanonical NF-κB pathway in the pathogenesis of common variable immunodeficiency.

Chen K, Coonrod EM, Kumánovics A, Franks ZF, Durtschi JD, Margraf RL, Wu W, Heikal NM, Augustine NH, Ridge PG, Hill HR, Jorde LB, Weyrich AS, Zimmerman GA, Gundlapalli AV, Bohnsack JF, Voelkerding KV.

Am J Hum Genet. 2013 Nov 7;93(5):812-24. doi: 10.1016/j.ajhg.2013.09.009. Epub 2013 Oct 17.

24.

Clinical analysis of genome next-generation sequencing data using the Omicia platform.

Coonrod EM, Margraf RL, Russell A, Voelkerding KV, Reese MG.

Expert Rev Mol Diagn. 2013 Jul;13(6):529-40. doi: 10.1586/14737159.2013.811907.

25.

Cystic fibrosis testing in a referral laboratory: results and lessons from a six-year period.

Ridge PG, Miller C, Bayrak-Toydemir P, Best DH, Mao R, Swensen JJ, Lyon E, Voelkerding KV.

J Clin Bioinforma. 2013 Jan 23;3(1):3. doi: 10.1186/2043-9113-3-3.

26.

TACI mutation p.Lys154Ter identified in Good Syndrome.

Margraf RL, Coonrod EM, Durtschi JD, Augustine NH, Voelkerding KV, Hill HR, Kumánovics A.

Clin Immunol. 2013 Jan;146(1):10-2. doi: 10.1016/j.clim.2012.10.006. Epub 2012 Oct 31. No abstract available.

PMID:
23165285
27.

Assuring the quality of next-generation sequencing in clinical laboratory practice.

Gargis AS, Kalman L, Berry MW, Bick DP, Dimmock DP, Hambuch T, Lu F, Lyon E, Voelkerding KV, Zehnbauer BA, Agarwala R, Bennett SF, Chen B, Chin EL, Compton JG, Das S, Farkas DH, Ferber MJ, Funke BH, Furtado MR, Ganova-Raeva LM, Geigenmüller U, Gunselman SJ, Hegde MR, Johnson PL, Kasarskis A, Kulkarni S, Lenk T, Liu CS, Manion M, Manolio TA, Mardis ER, Merker JD, Rajeevan MS, Reese MG, Rehm HL, Simen BB, Yeakley JM, Zook JM, Lubin IM.

Nat Biotechnol. 2012 Nov;30(11):1033-6. doi: 10.1038/nbt.2403. No abstract available.

28.

Opportunities and challenges associated with clinical diagnostic genome sequencing: a report of the Association for Molecular Pathology.

Schrijver I, Aziz N, Farkas DH, Furtado M, Gonzalez AF, Greiner TC, Grody WW, Hambuch T, Kalman L, Kant JA, Klein RD, Leonard DG, Lubin IM, Mao R, Nagan N, Pratt VM, Sobel ME, Voelkerding KV, Gibson JS.

J Mol Diagn. 2012 Nov;14(6):525-40. doi: 10.1016/j.jmoldx.2012.04.006. Epub 2012 Aug 20.

29.

Developing genome and exome sequencing for candidate gene identification in inherited disorders: an integrated technical and bioinformatics approach.

Coonrod EM, Durtschi JD, Margraf RL, Voelkerding KV.

Arch Pathol Lab Med. 2013 Mar;137(3):415-33. doi: 10.5858/arpa.2012-0107-RA. Epub 2012 Jul 7. Review.

PMID:
22770468
30.

Determination of RET Sequence Variation in an MEN2 Unaffected Cohort Using Multiple-Sample Pooling and Next-Generation Sequencing.

Margraf RL, Durtschi JD, Stephens JE, Perez M, Voelkerding KV.

J Thyroid Res. 2012;2012:318232. doi: 10.1155/2012/318232. Epub 2012 Apr 1.

31.

Mycobacterium chelonae-abscessus complex associated with sinopulmonary disease, Northeastern USA.

Simmon KE, Brown-Elliott BA, Ridge PG, Durtschi JD, Mann LB, Slechta ES, Steigerwalt AG, Moser BD, Whitney AM, Brown JM, Voelkerding KV, McGowan KL, Reilly AF, Kirn TJ, Butler WR, Edelstein PH, Wallace RJ Jr, Petti CA.

Emerg Infect Dis. 2011 Sep;17(9):1692-700. doi: 10.3201/eid1709.101667.

32.

Variant identification in multi-sample pools by illumina genome analyzer sequencing.

Margraf RL, Durtschi JD, Dames S, Pattison DC, Stephens JE, Voelkerding KV.

J Biomol Tech. 2011 Jul;22(2):74-84.

33.

Translating exome sequencing from research to clinical diagnostics.

Coonrod EM, Margraf RL, Voelkerding KV.

Clin Chem Lab Med. 2011 Dec 23;50(7):1161-8. doi: 10.1515/cclm-2011-0841. Review.

PMID:
22850020
34.

Nucleotide extension genotyping by high-resolution melting.

Liew M, Wittwer C, Voelkerding KV.

J Mol Diagn. 2010 Nov;12(6):731-8. doi: 10.2353/jmoldx.2010.090149. Epub 2010 Sep 16.

35.

Multi-sample pooling and illumina genome analyzer sequencing methods to determine gene sequence variation for database development.

Margraf RL, Durtschi JD, Dames S, Pattison DC, Stephens JE, Mao R, Voelkerding KV.

J Biomol Tech. 2010 Sep;21(3):126-40.

37.

Comparison of the Illumina Genome Analyzer and Roche 454 GS FLX for resequencing of hypertrophic cardiomyopathy-associated genes.

Dames S, Durtschi J, Geiersbach K, Stephens J, Voelkerding KV.

J Biomol Tech. 2010 Jul;21(2):73-80.

38.

Mycobacterium tuberculosis complex differentiation by genomic deletion patterns with multiplex polymerase chain reaction and melting analysis.

Pounder JI, Anderson CM, Voelkerding KV, Salfinger M, Dormandy J, Somoskovi A, Heifets L, Graham JJ, Storts DR, Petti CA.

Diagn Microbiol Infect Dis. 2010 May;67(1):101-5. doi: 10.1016/j.diagmicrobio.2009.12.014. Epub 2010 Mar 12.

PMID:
20227227
39.

Detection of large rearrangements in the cystic fibrosis transmembrane conductance regulator gene by multiplex ligation-dependent probe amplification assay when sequencing fails to detect two disease-causing mutations.

Svensson AM, Chou LS, Miller CE, Robles JA, Swensen JJ, Voelkerding KV, Mao R, Lyon E.

Genet Test Mol Biomarkers. 2010 Apr;14(2):171-4. doi: 10.1089/gtmb.2009.0099.

PMID:
20059381
40.

Digital fetal aneuploidy diagnosis by next-generation sequencing.

Voelkerding KV, Lyon E.

Clin Chem. 2010 Mar;56(3):336-8. doi: 10.1373/clinchem.2009.141267. Epub 2009 Dec 29. No abstract available.

41.

Multiplex amplicon genotyping by high-resolution melting.

Seipp MT, Durtschi JD, Voelkerding KV, Wittwer CT.

J Biomol Tech. 2009 Jul;20(3):160-4.

42.

Next-generation sequencing: from basic research to diagnostics.

Voelkerding KV, Dames SA, Durtschi JD.

Clin Chem. 2009 Apr;55(4):641-58. doi: 10.1373/clinchem.2008.112789. Epub 2009 Feb 26. Review.

43.

High resolution melting applications for clinical laboratory medicine.

Erali M, Voelkerding KV, Wittwer CT.

Exp Mol Pathol. 2008 Aug;85(1):50-8. doi: 10.1016/j.yexmp.2008.03.012. Epub 2008 Apr 13. Review.

44.

Quadruplex genotyping of F5, F2, and MTHFR variants in a single closed tube by high-resolution amplicon melting.

Seipp MT, Pattison D, Durtschi JD, Jama M, Voelkerding KV, Wittwer CT.

Clin Chem. 2008 Jan;54(1):108-15. Epub 2007 Nov 2.

45.

Unlabeled probes for the detection and typing of herpes simplex virus.

Dames S, Pattison DC, Bromley LK, Wittwer CT, Voelkerding KV.

Clin Chem. 2007 Oct;53(10):1847-54. Epub 2007 Aug 24.

46.

Characterization of aberrant melting peaks in unlabeled probe assays.

Dames S, Margraf RL, Pattison DC, Wittwer CT, Voelkerding KV.

J Mol Diagn. 2007 Jul;9(3):290-6.

47.

Unlabeled oligonucleotides as internal temperature controls for genotyping by amplicon melting.

Seipp MT, Durtschi JD, Liew MA, Williams J, Damjanovich K, Pont-Kingdon G, Lyon E, Voelkerding KV, Wittwer CT.

J Mol Diagn. 2007 Jul;9(3):284-9.

48.

Expanded instrument comparison of amplicon DNA melting analysis for mutation scanning and genotyping.

Herrmann MG, Durtschi JD, Wittwer CT, Voelkerding KV.

Clin Chem. 2007 Aug;53(8):1544-8. Epub 2007 Jun 7.

49.

Instrument comparison for heterozygote scanning of single and double heterozygotes: a correction and extension of Herrmann et al., Clin Chem 2006;52:494-503.

Herrmann MG, Durtschi JD, Bromley LK, Wittwer CT, Voelkerding KV.

Clin Chem. 2007 Jan;53(1):150-2. No abstract available.

50.

Evaluation of quantification methods for real-time PCR minor groove binding hybridization probe assays.

Durtschi JD, Stevenson J, Hymas W, Voelkerding KV.

Anal Biochem. 2007 Feb 1;361(1):55-64. Epub 2006 Dec 5.

PMID:
17188229

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