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1

Next-Generation Sequencing: From Basic Research to Diagnostics

Voelkerding, K. V., Dames, S. A., Durtschi, J. D.

Journal:

Clinical Chemistry

Année:

2009

Langue:

english

Fichier:

PDF, 2.41 MB

english, 2009

2

Specific versus Nonspecific Isothermal DNA Amplification through Thermophilic Polymerase and Nicking Enzyme Activities†

Tan, Eric, Erwin, Barbara, Dames, Shale, Ferguson, Tanya, Buechel, Megan, Irvine, Bruce, Voelkerding, Karl, Niemz, Angelika

Journal:

Année:

2008

Langue:

english

Fichier:

PDF, 1.97 MB

english, 2008

3

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

Gargis, Amy S, Kalman, Lisa, Berry, Meredith W, Bick, David P, Dimmock, David P, Hambuch, Tina, Lu, Fei, Lyon, Elaine, Voelkerding, Karl V, Zehnbauer, Barbara A, Agarwala, Richa, Bennett, Sarah F, Che

Journal:

Nature Biotechnology

Année:

2012

Langue:

english

Fichier:

PDF, 190 KB

english, 2012

4

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

Richards, Sue, Aziz, Nazneen, Bale, Sherri, Bick, David, Das, Soma, Gastier-Foster, Julie, Grody, Wayne W., Hegde, Madhuri, Lyon, Elaine, Spector, Elaine, Voelkerding, Karl, Rehm, Heidi L.

Journal:

Genetics in Medicine

Année:

2015

Langue:

english

Fichier:

PDF, 874 KB

english, 2015

5

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

Hu, Hao, Roach, Jared C, Coon, Hilary, Guthery, Stephen L, Voelkerding, Karl V, Margraf, Rebecca L, Durtschi, Jacob D, Tavtigian, Sean V, Shankaracharya,, Wu, Wilfred, Scheet, Paul, Wang, Shuoguo, Xi

Journal:

Nature Biotechnology

Année:

2014

Langue:

english

Fichier:

PDF, 1.46 MB

english, 2014

6

Management of chronic myeloid leukemia during pregnancy with leukapheresis

Frank J. Strobl, Karl V. Voelkerding, Eileen P. Smith

Journal:

Journal of Clinical Apheresis

Année:

1999

Langue:

english

Fichier:

PDF, 48 KB

english, 1999

7

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

Jacob D. Durtschi, Jeffery Stevenson, Weston Hymas, Karl V. Voelkerding

Journal:

Analytical Biochemistry

Année:

2007

Langue:

english

Fichier:

PDF, 233 KB

english, 2007

8

Optically improved aluminum oxide membrane through electroless Ni modification

Jacob D. Durtschi, Maria Erali, Mark G. Herrmann, Marc G. Elgort, Karl V. Voelkerding, Roger E. Smith

Journal:

Journal of Membrane Science

Année:

2005

Langue:

english

Fichier:

PDF, 363 KB

english, 2005

9

High resolution melting applications for clinical laboratory medicine

Maria Erali, Karl V. Voelkerding, Carl T. Wittwer

Journal:

Experimental and Molecular Pathology

Année:

2008

Langue:

english

Fichier:

PDF, 1.01 MB

english, 2008

10

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

June I. Pounder, Clint M. Anderson, Karl V. Voelkerding, Max Salfinger, Jillian Dormandy, Akos Somoskovi, Leonid Heifets, Jenny Jo Graham, Douglas R. Storts, Cathy A. Petti

Journal:

Diagnostic Microbiology and Infectious Disease

Année:

2010

Langue:

english

Fichier:

PDF, 234 KB

english, 2010

11

Analytical Evaluation of Primer Engineered Multiplex Polymerase Chain Reaction–Restriction Fragment Length Polymorphism for Detection of Factor V Leiden and Prothrombin G20210A

Suzanne Huber, Karolyn J. McMaster, Karl V. Voelkerding

Journal:

The Journal of Molecular Diagnostics

Année:

2000

Langue:

english

Fichier:

PDF, 124 KB

english, 2000

12

Next Generation Sequencing for Clinical Diagnostics-Principles and Application to Targeted Resequencing for Hypertrophic Cardiomyopathy

Voelkerding, Karl V., Dames, Shale, Durtschi, Jacob D.

Journal:

The Journal of Molecular Diagnostics

Année:

2010

Langue:

english

Fichier:

PDF, 1.02 MB

english, 2010

13

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

Ridge, Perry G, Miller, Christine, Bayrak-Toydemir, Pinar, Best, D Hunter, Mao, Rong, Swensen, Jeffrey J, Lyon, Elaine, Voelkerding, Karl V

Journal:

Journal of Clinical Bioinformatics

Année:

2013

Langue:

english

Fichier:

PDF, 157 KB

english, 2013

14

Unlabeled Oligonucleotides as Internal Temperature Controls for Genotyping by Amplicon Melting

Seipp, Michael T., Durtschi, Jacob D., Liew, Michael A., Williams, Jamie, Damjanovich, Kristy, Pont-Kingdon, Genevieve, Lyon, Elaine, Voelkerding, Karl V., Wittwer, Carl T.

Journal:

The Journal of Molecular Diagnostics

Année:

2007

Langue:

english

Fichier:

PDF, 446 KB

english, 2007

15

Developing Genome and Exome Sequencing for Candidate Gene Identification in Inherited Disorders: An Integrated Technical and Bioinformatics Approach

Coonrod, Emily M., Durtschi, Jacob D., Margraf, Rebecca L., Voelkerding, Karl V.

Journal:

Archives of Pathology & Laboratory Medicine

Année:

2013

Langue:

english

Fichier:

PDF, 2.17 MB

english, 2013

16

Digital Fetal Aneuploidy Diagnosis by Next-Generation Sequencing

Voelkerding, K. V., Lyon, E.

Journal:

Clinical Chemistry

Année:

2010

Langue:

english

Fichier:

PDF, 51 KB

english, 2010

17

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, Annika M., Chou, Lan-Szu, Miller, Christine E., Robles, Jorge A., Swensen, Jeffrey J., Voelkerding, Karl V., Mao, Rong, Lyon, Elaine

Journal:

Genetic Testing and Molecular Biomarkers

Année:

2010

Langue:

english

Fichier:

PDF, 71 KB

english, 2010

18

A Single-Tube Nucleic Acid Extraction, Amplification, and Detection Method Using Aluminum Oxide

Dames, Shale, Bromley, L. Kathryn, Herrmann, Mark, Elgort, Marc, Erali, Maria, Smith, Roger, Voelkerding, Karl V.

Journal:

The Journal of Molecular Diagnostics

Année:

2006

Langue:

english

Fichier:

PDF, 323 KB

english, 2006

19

Finding a Workable Balance

Voelkerding, Karl V.

Journal:

The Journal of Molecular Diagnostics

Année:

2000

Langue:

english

Fichier:

PDF, 73 KB

english, 2000

20

Characterization of Aberrant Melting Peaks in Unlabeled Probe Assays

Dames, Shale, Margraf, Rebecca L., Pattison, David C., Wittwer, Carl T., Voelkerding, Karl V.

Journal:

The Journal of Molecular Diagnostics

Année:

2007

Langue:

english

Fichier:

PDF, 524 KB

english, 2007

21

Methods-Based Proficiency Testing in Molecular Genetic Pathology

Schrijver, Iris, Aziz, Nazneen, Jennings, Lawrence J., Richards, Carolyn Sue, Voelkerding, Karl V., Weck, Karen E.

Journal:

The Journal of Molecular Diagnostics

Année:

2014

Langue:

english

Fichier:

PDF, 294 KB

english, 2014

22

Assessment of SNRPN expression as a molecular tool in the diagnosis of Prader-Willi syndrome

CARREL, A, HUBER, S, ALLEN, D, VOELKERDING, K

Journal:

Molecular Diagnosis

Année:

1999

Langue:

english

Fichier:

PDF, 978 KB

english, 1999

23

Nucleotide Extension Genotyping by High-Resolution Melting

Liew, Michael, Wittwer, Carl, Voelkerding, Karl V.

Journal:

The Journal of Molecular Diagnostics

Année:

2010

Langue:

english

Fichier:

PDF, 370 KB

english, 2010

24

Resistance to activated protein c: Comparison of three different PCR methods for detection fv r506q

VOELKERDING, K, HUBER, S, STROBL, F, WU, L, SABATINI, L, ANDERSON, M, LUTZ, C

Journal:

Molecular Diagnosis

Année:

1996

Langue:

english

Fichier:

PDF, 2.64 MB

english, 1996

25

TACI mutation p.Lys154Ter identified in Good Syndrome

Margraf, Rebecca L., Coonrod, Emily M., Durtschi, Jacob D., Augustine, Nancy H., Voelkerding, Karl V., Hill, Harry R., Kumánovics, Attila

Journal:

Clinical Immunology

Année:

2013

Langue:

english

Fichier:

PDF, 254 KB

english, 2013

26

Chimerasome-mediated gene transfer in vitro and in vivo

Gould-Fogerite, Susan, Mazurkiewicz, Joseph E., Raska, Karel, Voelkerding, Karl, Lehman, John M., Mannino, Raphael J.

Journal:

Année:

1989

Langue:

english

Fichier:

PDF, 1.05 MB

english, 1989

27

1999 Association for Molecular Pathology Annual Meeting

Voelkerding, Karl V.

Journal:

The Journal of Molecular Diagnostics

Année:

2000

Langue:

english

Fichier:

PDF, 79 KB

english, 2000

28

Phevor Combines Multiple Biomedical Ontologies for Accurate Identification of Disease-Causing Alleles in Single Individuals and Small Nuclear Families

Singleton, Marc V., Guthery, Stephen L., Voelkerding, Karl V., Chen, Karin, Kennedy, Brett, Margraf, Rebecca L., Durtschi, Jacob, Eilbeck, Karen, Reese, Martin G., Jorde, Lynn B., Huff, Chad D., Yande

Journal:

The American Journal of Human Genetics

Année:

2014

Langue:

english

Fichier:

PDF, 1.21 MB

english, 2014

29

Outcomes and genes

GARRETT, C, MADEJ, R, KAUL, K, VOELKERDING, K

Journal:

Molecular Diagnosis

Année:

1998

Langue:

english

Fichier:

PDF, 228 KB

english, 1998

30

Photopheresis: A novel immunomodulatory therapy with a potential role in transplant management

Voelkerding, Karl V.

Journal:

Clinical Immunology Newsletter

Année:

1992

Langue:

english

Fichier:

PDF, 700 KB

english, 1992

31

[IEEE 2005 3rd IEEE/EMBS Special Topic Conference on Microtechnology in Medicine and Biology - Oahu, HI, USA (12-15 May 2005)] 2005 3rd IEEE/EMBS Special Topic Conference on Microtechnology in Medicine and Biology - Multi-DNA Extraction Chip Based on an Aluminum Oxide Membrane Integrated into a PDMS Microfluidic Structure

Jungkyu Kim,, Voelkerding, K.V., Gale, B.K.

Année:

2005

Langue:

english

Fichier:

PDF, 1.69 MB

english, 2005

32

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

Swoboda, Kathryn J., Margraf, Rebecca L., Carey, John C., Zhou, Holly, Newcomb, Tara M., Coonrod, Emily, Durtschi, Jacob, Mallempati, Kalyan, Kumanovics, Attila, Katz, Ben E., Voelkerding, Karl V., Op

Journal:

American Journal of Medical Genetics Part A

Année:

2014

Langue:

english

Fichier:

PDF, 2.55 MB

english, 2014

33

Identification of Patients withRAGMutations Previously Diagnosed with Common Variable Immunodeficiency Disorders

Buchbinder, David, Baker, Rebecca, Lee, Yu Nee, Ravell, Juan, Zhang, Yu, McElwee, Joshua, Nugent, Diane, Coonrod, Emily M., Durtschi, Jacob D., Augustine, Nancy H., Voelkerding, Karl V., Csomos, Krisz

Journal:

Journal of Clinical Immunology

Année:

2015

Langue:

english

Fichier:

PDF, 977 KB

english, 2015

34

Quadruplex Genotyping of F5, F2, and MTHFR Variants in a Single Closed Tube by High-Resolution Amplicon Melting

Seipp, M. T., Pattison, D., Durtschi, J. D., Jama, M., Voelkerding, K. V., Wittwer, C. T.

Journal:

Clinical Chemistry

Année:

2007

Langue:

english

Fichier:

PDF, 492 KB

english, 2007

35

Isothermal DNA Amplification with Gold Nanosphere-Based Visual Colorimetric Readout for Herpes Simplex Virus Detection

Tan, E., Erwin, B., Dames, S., Voelkerding, K., Niemz, A.

Journal:

Clinical Chemistry

Année:

2007

Langue:

english

Fichier:

PDF, 260 KB

english, 2007

36

Unlabeled Probes for the Detection and Typing of Herpes Simplex Virus

Dames, S., Pattison, D. C., Bromley, L. K., Wittwer, C. T., Voelkerding, K. V.

Journal:

Clinical Chemistry

Année:

2007

Langue:

english

Fichier:

PDF, 464 KB

english, 2007

37

Closed-Tube SNP Genotyping Without Labeled Probes/A Comparison Between Unlabeled Probe and Amplicon Melting

Liew, Michael, Seipp, Michael, Durtschi, Jacob, Margraf, Rebecca, Dames, Shale, Erali, Maria, Voelkerding, Karl, Wittwer, Carl

Journal:

American Journal of Clinical Pathology

Année:

2007

Langue:

english

Fichier:

PDF, 594 KB

english, 2007

38

Translating exome sequencing from research to clinical diagnostics

Coonrod, Emily M., Margraf, Rebecca L., Voelkerding, Karl V.

Journal:

Clinical Chemistry and Laboratory Medicine

Année:

2012

Langue:

english

Fichier:

PDF, 449 KB

english, 2012

39

Expanded Instrument Comparison of Amplicon DNA Melting Analysis for Mutation Scanning and Genotyping

Herrmann, M. G., Durtschi, J. D., Wittwer, C. T., Voelkerding, K. V.

Journal:

Clinical Chemistry

Année:

2007

Langue:

english

Fichier:

PDF, 359 KB

english, 2007

40

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, M. G., Durtschi, J. D., Bromley, L. K., Wittwer, C. T., Voelkerding, K. V.

Journal:

Clinical Chemistry

Année:

2006

Langue:

english

Fichier:

PDF, 476 KB

english, 2006

41

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

Margraf, R. L., Durtschi, J. D., Stephens, J. E., Perez, M., Voelkerding, K. V.

Journal:

Journal of Thyroid Research

Année:

2012

Langue:

english

Fichier:

PDF, 1.29 MB

english, 2012

42

Instrument Comparison for DNA Genotyping by Amplicon Melting

Herrmann, Mark G., Durtschi, Jacob D., Voelkerding, Karl V., Wittwer, Carl T.

Journal:

Journal of the Association for Laboratory Automation

Année:

2006

Langue:

english

Fichier:

PDF, 180 KB

english, 2006

43

Patterning of a nanoporous membrane for multi-sample DNA extraction

Kim, Jungkyu, Voelkerding, Karl V, Gale, Bruce K

Journal:

Journal of Micromechanics and Microengineering

Année:

2006

Langue:

english

Fichier:

PDF, 764 KB

english, 2006

44

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

Coonrod, Emily M, Margraf, Rebecca L, Russell, Archie, Voelkerding, Karl V, Reese, Martin G

Journal:

Expert Review of Molecular Diagnostics

Année:

2013

Langue:

english

Fichier:

PDF, 3.75 MB

english, 2013

45

Design of a Genomics Curriculum: Competencies for Practicing Pathologists

Laudadio, Jennifer, McNeal, Jeffrey L., Boyd, Scott D., Le, Long Phi, Lockwood, Christina, McCloskey, Cindy B., Sharma, Gaurav, Voelkerding, Karl V., Haspel, Richard L.

Journal:

Archives of Pathology & Laboratory Medicine

Année:

2015

Langue:

english

Fichier:

PDF, 80 KB

english, 2015

46

Loss of B Cells in Patients with Heterozygous Mutations in IKAROS

Kuehn, Hye Sun, Boisson, Bertrand, Cunningham-Rundles, Charlotte, Reichenbach, Janine, Stray-Pedersen, Asbjørg, Gelfand, Erwin W., Maffucci, Patrick, Pierce, Keith R., Abbott, Jordan K., Voelkerding,

Journal:

New England Journal of Medicine

Année:

2016

Langue:

english

Fichier:

PDF, 629 KB

english, 2016

47

Follicular Lymphoma Mimicking Progressive Transformation of Germinal Centers: Immunologic Analysis of a Case

Sandhaus, Linda Mia, Voelkerding, Karl, Raska, Karel

Journal:

American Journal of Clinical Pathology

Année:

1988

Langue:

english

Fichier:

PDF, 1.18 MB

english, 1988

48

Clonal B-Cell Proliferation in an Infant with Congenital HIV Infection and Immune Thrombocytopenia

Voelkerding, Karl V., Sandhaus, Linda M., Belov, Lilia, Frenkel, Lawrence, Ettinger, Lawrence J., Raska, Karel

Journal:

American Journal of Clinical Pathology

Année:

1988

Langue:

english

Fichier:

PDF, 1.34 MB

english, 1988

49

Plasma Cell Malignancy in the Acquired Immune Deficiency Syndrome: Association with Epstein-Barr Virus

Voelkerding, Karl V., Sandhaus, Linda M., Kim, Hugh C., Wilson, Joanna, Chittenden, Tom, Levine, Arnold J., Raska, Karel

Journal:

American Journal of Clinical Pathology

Année:

1989

Langue:

english

Fichier:

PDF, 4.23 MB

english, 1989

50

Oligoclonal Childhood Immunoblastic Lymphoma

Sandhaus, Linda M., Voelkerding, Karl V.

Journal:

American Journal of Clinical Pathology

Année:

1991

Langue:

english

Fichier:

PDF, 192 KB

english, 1991