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

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

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

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

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

A direct comparison of next generation sequencing enrichment methods using an aortopathy gene panel- clinical diagnostics perspective

Por Wooderchak-Donahue, Whitney L, O’Fallon, Brendan, Furtado, Larissa V, Durtschi, Jacob D, Plant, Parker, Ridge, Perry G, Rope, Alan F, Yetman, Angela T, Bayrak-Toydemir, Pinar
Publicado em 2012

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)

Germline Mutations in NFKB2 Implicate the Noncanonical NF-κB Pathway in the Pathogenesis of Common Variable Immunodeficiency

Por Chen, Karin, Coonrod, Emily M., Kumánovics, Attila, Franks, Zechariah F., Durtschi, Jacob D., Margraf, Rebecca L., Wu, Wilfred, Heikal, Nahla M., Augustine, Nancy H., Ridge, Perry G., Hill, Harry R., Jorde, Lynn B., Weyrich, Andrew S., Zimmerman, Guy A., Gundlapalli, Adi V., Bohnsack, John F., Voelkerding, Karl V.
Publicado em 2013

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

Por 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, Richard J., Petti, Cathy A.
Publicado em 2011

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

Por 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, Srivastava, Deepak, Reese, Martin G, Jorde, Lynn B, Yandell, Mark, Huff, Chad D
Publicado em 2014