1999 Association for Molecular Pathology Annual Meeting

Por Voelkerding, Karl V.
Publicado em 2000

Finding a Workable Balance: Regulation of Genetic Testing in the Human Genome Era

Por Voelkerding, Karl V.
Publicado em 2000

High Resolution Melting Applications for Clinical Laboratory Medicine

Por Erali, Maria, Voelkerding, Karl V., Wittwer, Carl T.
Publicado em 2008

Nucleotide Extension Genotyping by High-Resolution Melting

Por Liew, Michael, Wittwer, Carl, Voelkerding, Karl V.
Publicado em 2010

Next Generation Sequencing for Clinical Diagnostics-Principles and Application to Targeted Resequencing for Hypertrophic Cardiomyopathy: A Paper from the 2009 William Beaumont Hosp...

Por Voelkerding, Karl V., Dames, Shale, Durtschi, Jacob D.
Publicado em 2010

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

Por Huber, Suzanne, McMaster, Karolyn J., Voelkerding, Karl V.
Publicado em 2000

Multiplex Amplicon Genotyping by High-Resolution Melting

Por Seipp, Michael T., Durtschi, Jacob D., Voelkerding, Karl V., Wittwer, Carl T.
Publicado em 2009

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

Por Dames, Shale, Durtschi, Jacob, Geiersbach, Katherine, Stephens, Jack, Voelkerding, Karl V.
Publicado em 2010

Characterization of Aberrant Melting Peaks in Unlabeled Probe Assays

Por Dames, Shale, Margraf, Rebecca L., Pattison, David C., Wittwer, Carl T., Voelkerding, Karl V.
Publicado em 2007

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

Por Coonrod, Emily M, Margraf, Rebecca L, Russell, Archie, Voelkerding, Karl V, Reese, Martin G
Publicado em 2013

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

Por Durtschi, Jacob, Margraf, Rebecca L, Coonrod, Emily M, Mallempati, Kalyan C, Voelkerding, Karl V
Publicado em 2013

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

Por Dames, Shale, Bromley, L. Kathryn, Herrmann, Mark, Elgort, Marc, Erali, Maria, Smith, Roger, Voelkerding, Karl V.
Publicado em 2006

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

Por Margraf, Rebecca L., Durtschi, Jacob D., Dames, Shale, Pattison, David C., Stephens, Jack E., Voelkerding, Karl V.
Publicado em 2011

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

Por Margraf, Rebecca L., Durtschi, Jacob D., Dames, Shale, Pattison, David C., Stephens, Jack E., Mao, Rong, Voelkerding, Karl V.
Publicado em 2010

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

Por Ridge, Perry G, Miller, Christine, Bayrak-Toydemir, Pinar, Best, D Hunter, Mao, Rong, Swensen, Jeffrey J, Lyon, Elaine, Voelkerding, Karl V
Publicado em 2013

Unlabeled Oligonucleotides as Internal Temperature Controls for Genotyping by Amplicon Melting

Por Seipp, Michael T., Durtschi, Jacob D., Liew, Michael A., Williams, Jamie, Damjanovich, Kristy, Pont-Kingdon, Genevieve, Lyon, Elaine, Voelkerding, Karl V., Wittwer, Carl T.
Publicado em 2007

Normal hematologic parameters and fetal hemoglobin silencing with heterozygous IKZF1 mutations

Por Abdulhay, Nour, Fiorini, Claudia, Kumánovics, Attila, Sun, Ashleigh A., Hansen-Rejali, Jeannette, Voelkerding, Karl V., Rosenzweig, Sergio D., Hill, Harry R., Sankaran, Vijay G.
Publicado no Blood (2016)

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

Por 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., Yandell, Mark
Publicado em 2014

A Novel Germline PIGA Mutation in Ferro-Cerebro-Cutaneous Syndrome: A Neurodegenerative X-Linked Epileptic Encephalopathy With Systemic Iron-Overload

Por 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.
Publicado no Am J Med Genet A (2013)

Identification of Patients with RAG Mutations Previously Diagnosed with Common Variable Immunodeficiency Disorders

Por 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, Krisztian, Rosen, Lindsey, Browne, Sarah, Walter, Jolan E., Notarangelo, Luigi D., Hill, Harry R., Kumánovics, Attila
Publicado no J Clin Immunol (2014)