Works by Voelkerding, Karl V.

Results: 27

Genomic Reporting Practices Across 5 Molecular Disciplines: A Study From the College of American Pathologists.

Published in:

Archives of Pathology & Laboratory Medicine, 2025, v. 149, n. 7, p. 627, doi. 10.5858/arpa.2024-0207-CP

By:

Furtado, Larissa V.;
Kim, Annette S.;
Moyer, Ann M.;
Moncur, Joel T.;
Xian, Rena R.;
Roy, Angshumoy;
Santani, Avni B.;
Akkari, Yassmine;
Voelkerding, Karl V.;
Souers, Rhona J.;
Halley, Jaimie;
Palomaki, Glenn E.

Publication type:

Article

Digital Fetal Aneuploidy Diagnosis by Next-Generation Sequencing.

Published in:

Clinical Chemistry, 2010, v. 56, n. 3, p. 336, doi. 10.1373/clinchem.2009.141267

By:

Voelkerding, Karl V.;
Lyon, Elaine

Publication type:

Article

Mycobacterium chelonae-abscessus Complex Associated with Sinopulmonary Disease, Northeastern USA.

Published in:

Emerging Infectious Diseases, 2011, v. 17, n. 9, p. 1692, doi. 10.3201/eid1709.101667

By:

Simmon, Keith E.;
Brown-Elliott, Barbara A.;
Ridge, Perry G.;
Durtschi, Jacob D.;
Mann, Linda Bridge;
Slechta, E. Susan;
Steigerwalt, Arnold G.;
Moser, Benjamin D.;
Whitney, Anne M.;
Brown, June M.;
Voelkerding, Karl V.;
McGowan, Karin L.;
Reilly, Anne F.;
Kirn, Thomas J.;
Butler, W. Ray;
Edelstein, Paul H.;
Wallace Jr., Richard J.;
Petti, Cathy A.

Publication type:

Article

Translating exome sequencing from research to clinical diagnostics.

Published in:

Clinical Chemistry & Laboratory Medicine, 2012, v. 50, n. 7, p. 1161, doi. 10.1515/cclm-2011-0841

By:

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

Publication type:

Article

Variant Identification in Multi-Sample Pools by Illumina Genome Analyzer Sequencing.

Published in:

Journal of Biomolecular Techniques, 2011, v. 22, n. 2, p. 74

By:

Margraf, Rebecca L.;
Durtschi, Jacob D.;
Dames, Shale;
Pattison, David C.;
Stephens, Jack E.;
Voelkerding, Karl V.

Publication type:

Article

Multi-Sample Pooling and Illumina Genome Analyzer Sequencing Methods to Determine Gene Sequence Variation for Database Development.

Published in:

Journal of Biomolecular Techniques, 2010, v. 21, n. 3, p. 126

By:

Margraf, Rebecca L.;
Durtschi, Jacob D.;
Dames, Shale;
Pattison, David C.;
Stephens, Jack E.;
Mao, Rong;
Voelkerding, Karl V.

Publication type:

Article

Comparison of the Illumina Genome Analyzer and Roche 454 GS FLX for Resequencing of Hypertrophic Cardiomyopathy-Associated Genes.

Published in:

Journal of Biomolecular Techniques, 2010, v. 21, n. 2, p. 73

By:

Dames, Shale;
Durtschi, Jacob;
Geiersbach, Katherine;
Stephens, Jack;
Voelkerding, Karl V.

Publication type:

Article

Frontline Science: Cxxc5 expression alters cell cycle and myeloid differentiation of mouse hematopoietic stem and progenitor cells.

Published in:

Journal of Leukocyte Biology, 2020, v. 108, n. 2, p. 469, doi. 10.1002/JLB.1HI0120-169R

By:

Joshi, Hemant R.;
Hill, Harry R.;
Zhou, Zemin;
He, Xiao;
Voelkerding, Karl V.;
Kumánovics, Attila

Publication type:

Article

Four-Year Laboratory Performance of the First College of American Pathologists In Silico Next-Generation Sequencing Bioinformatics Proficiency Testing Surveys.

Published in:

Archives of Pathology & Laboratory Medicine, 2023, v. 147, n. 2, p. 137, doi. 10.5858/arpa.2021-0384-CP

By:

Furtado, Larissa V.;
Souers, Rhona J.;
Vasalos, Patricia;
Halley, Jaimie G.;
Aisner, Dara L.;
Nagarajan, Rakesh;
Voelkerding, Karl V.;
Merker, Jason D.;
Konnick, Eric Q.

Publication type:

Article

Tiered Somatic Variant Classification Adoption Has Increased Worldwide With Some Practice Differences Based on Location and Institutional Setting: A Study From the College of American Pathologists Molecular Oncology Committee.

Published in:

Archives of Pathology & Laboratory Medicine, 2022, v. 146, n. 7, p. 822, doi. 10.5858/arpa.2021-0179-CP

By:

Bruehl, Frido K.;
Kim, Annette S.;
Li, Marilyn M.;
Lindeman, Neal I.;
Moncur, Joel T.;
Souers, Rhona J.;
Vasalos, Patricia;
Voelkerding, Karl V.;
Xian, Rena R.;
Surrey, Lea F.

Publication type:

Article

Evaluation of Mass Cytometry in the Clinical Laboratory.

Published in:

Cytometry. Part B, 2019, v. 96, n. 4, p. 266, doi. 10.1002/cyto.b.21791

By:

Ravkov, Eugene V.;
Charlton, Cheryl M.;
Barker, Adam P.;
Hill, Harry;
Peterson, Lisa K.;
Slev, Patricia;
Tebo, Anne;
Voelkerding, Karl V.;
Wittwer, Carl T.;
Heikal, Nahla;
Delgado, Julio C.;
Lázár‐Molnár, Eszter;
Kumánovics, Attila

Publication type:

Article

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

Published in:

Child Neurology Open, 2018, v. 5, p. 1, doi. 10.1177/2329048X18789282

By:

Margraf, Rebecca L.;
Durtschi, Jacob;
Krock, Bryan;
Newcomb, Tara M.;
Bonkowsky, Joshua L.;
Voelkerding, Karl V.;
Bayrak-Toydemir, Pinar;
Lutz, Richard E.;
Swoboda, Kathryn J.

Publication type:

Article

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

Published in:

BMC Bioinformatics, 2013, v. 14, n. Suppl 13, p. 1, doi. 10.1186/1471-2105-14-S13-S2

By:

Durtschi, Jacob;
Margraf, Rebecca L.;
Coonrod, Emily M.;
Mallempati, Kalyan C.;
Voelkerding, Karl V.

Publication type:

Article

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

Published in:

Nature Communications, 2018, v. 9, n. 1, p. 1, doi. 10.1038/s41467-018-02977-8

By:

Cytlak, Urszula;
Resteu, Anastasia;
Bogaert, Delfien;
Hye Sun Kuehn;
Altmann, Thomas;
Gennery, Andrew;
Jackson, Graham;
Kumanovics, Attila;
Voelkerding, Karl V.;
Prader, Seraina;
Dullaers, Melissa;
Reichenbach, Janine;
Hill, Harry;
Haerynck, Filomeen;
Rosenzweig, Sergio D.;
Collin, Matthew;
Bigley, Venetia

Publication type:

Article

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

Published in:

Genome Biology, 2016, v. 17, p. 1, doi. 10.1186/s13059-016-0969-1

By:

Flygare, Steven;
Simmon, Keith;
Miller, Chase;
Yi Qiao;
Kennedy, Brett;
Sera, Tonya Di;
Graf, Erin H.;
Tardif, Keith D.;
Kapusta, Aurélie;
Rynearson, Shawn;
Stockmann, Chris;
Queen, Krista;
Suxiang Tong;
Voelkerding, Karl V.;
Blaschke, Anne;
Byington, Carrie L.;
Jain, Seema;
Pavia, Andrew;
Ampofo, Krow;
Eilbeck, Karen

Publication type:

Article

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

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 1, p. 17, doi. 10.1002/ajmg.a.36189

By:

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.;
Opitz, John M.

Publication type:

Article

Management of chronic myeloid leukemia during pregnancy with leukapheresis.

Published in:

Journal of Clinical Apheresis, 1999, v. 14, n. 1, p. 42, doi. 10.1002/(SICI)1098-1101(1999)14:1<42::AID-JCA8>3.0.CO;2-2

By:

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

Publication type:

Article

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

Published in:

Nature Biotechnology, 2015, v. 33, n. 7, p. 689, doi. 10.1038/nbt.3237

By:

Gargis, Amy S;
Kalman, Lisa;
Bick, David P;
da Silva, Cristina;
Dimmock, David P;
Funke, Birgit H;
Gowrisankar, Sivakumar;
Hegde, Madhuri R;
Kulkarni, Shashikant;
Mason, Christopher E;
Nagarajan, Rakesh;
Voelkerding, Karl V;
Worthey, Elizabeth A;
Aziz, Nazneen;
Barnes, John;
Bennett, Sarah F;
Bisht, Himani;
Church, Deanna M;
Dimitrova, Zoya;
Gargis, Shaw R

Publication type:

Article

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

Published in:

Nature Biotechnology, 2014, v. 32, n. 7, p. 663, doi. 10.1038/nbt.2895

By:

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;
Xing, Jinchuan;
Glusman, Gustavo;
Hubley, Robert;
Li, Hong;
Garg, Vidu;
Moore, Barry;
Hood, Leroy;
Galas, David J

Publication type:

Article

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

Published in:

Nature Biotechnology, 2012, v. 30, n. 11, p. 1033, doi. 10.1038/nbt.2403

By:

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;
Chen, Bin;
Chin, Ephrem L H;
Compton, John G;
Das, Soma;
Farkas, Daniel H;
Ferber, Matthew J;
Funke, Birgit H;
Furtado, Manohar R

Publication type:

Article

A Primer on Chimeric Antigen Receptor T-cell Therapy: What Does It Mean for Pathologists?

Published in:

Archives of Pathology & Laboratory Medicine, 2021, v. 145, n. 6, p. 704, doi. 10.5858/arpa.2019-0632-CP

By:

Cushman-Vokoun, Allison M.;
Voelkerding, Karl V.;
Fung, Mark K.;
Nowak, Jan A.;
Thorson, John A.;
Duncan, Helena L.;
Kalicanin, Tanja;
Anderson, Matthew W.;
Yohe, Sophia

Publication type:

Article

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

Published in:

Archives of Pathology & Laboratory Medicine, 2017, v. 141, n. 6, p. 798, doi. 10.5858/arpa.2016-0622-RA

By:

Hegde, Madhuri;
Santani, Avni;
Mao, Rong;
Ferreira-Gonzalez, Andrea;
Weck, Karen E.;
Voelkerding, Karl V.

Publication type:

Article

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

Published in:

Archives of Pathology & Laboratory Medicine, 2017, v. 141, n. 6, p. 787, doi. 10.5858/arpa.2016-0517-RA

By:

Santani, Avni;
Murrell, Jill;
Funke, Birgit;
Zhenming Yu;
Hegde, Madhuri;
Rong Mao;
Ferreira-Gonzalez, Andrea;
Voelkerding, Karl V.;
Weck, Karen E.

Publication type:

Article

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

Published in:

Archives of Pathology & Laboratory Medicine, 2016, v. 140, n. 10, p. 1085, doi. 10.5858/arpa.2016-0194-CP

By:

Duncavage, Eric J.;
Abel, Haley J.;
Merker, Jason D.;
Bodner, John B.;
Qin Zhao;
Voelkerding, Karl V.;
Pfeifer, John D.

Publication type:

Article

Design of a Genomics Curriculum.

Published in:

Archives of Pathology & Laboratory Medicine, 2015, v. 139, n. 7, p. 894, doi. 10.5858/arpa.2014-0253-CP

By:

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

Publication type:

Article

College of American Pathologists' Laboratory Standards for Next-Generation Sequencing Clinical Tests.

Published in:

Archives of Pathology & Laboratory Medicine, 2015, v. 139, n. 4, p. 481, doi. 10.5858/arpa.2014-0250-CP

By:

Aziz, Nazneen;
Qin Zhao;
Bry, Lynn;
Driscoll, Denise K.;
Funke, Birgit;
Gibson, Jane S.;
Grody, Wayne W.;
Hegde, Madhuri R.;
Hoeltge, Gerald A.;
Leonard, Debra G. B.;
Merker, Jason D.;
Nagarajan, Rakesh;
Palicki, Linda A.;
Robetorye, Ryan S.;
Schrijver, Iris;
Weck, Karen E.;
Voelkerding, Karl V.

Publication type:

Article

Developing Genome and Exome Sequencing for Candidate Gene Identification in Inherited Disorders.

Published in:

Archives of Pathology & Laboratory Medicine, 2013, v. 137, n. 3, p. 415, doi. 10.5858/arpa.2012-0107-RA

By:

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

Publication type:

Article