Rapid Diagnosis of MEN2B Using Unlabeled Probe Melting Analysis and the LightCycler 480 Instrument

Por Margraf, Rebecca L., Mao, Rong, Wittwer, Carl T.
Publicado em 2008

Genotyping Hepatitis C Virus by Heteroduplex Mobility Analysis Using Temperature Gradient Capillary Electrophoresis

Por Margraf, Rebecca L., Erali, Maria, Liew, Michael, Wittwer, Carl T.
Publicado em 2004

RET Proto-Oncogene Genotyping Using Unlabeled Probes, the Masking Technique, and Amplicon High-Resolution Melting Analysis

Por Margraf, Rebecca L., Mao, Rong, Highsmith, W. Edward, Holtegaard, Leonard M., Wittwer, Carl T.
Publicado em 2007

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

Genotyping of Human Platelet Antigens 1 to 6 and 15 by High-Resolution Amplicon Melting and Conventional Hybridization Probes

Por Liew, Michael, Nelson, Lesa, Margraf, Rebecca, Mitchell, Sheri, Erali, Maria, Mao, Rong, Lyon, Elaine, Wittwer, Carl
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

Predicting Phenotypic Severity of Uncertain Gene Variants in the RET Proto-Oncogene

Por Crockett, David K., Piccolo, Stephen R., Ridge, Perry G., Margraf, Rebecca L., Lyon, Elaine, Williams, Marc S., Mitchell, Joyce A.
Publicado em 2011

Genetic Variants Associated with Port-Wine Stains

Por Frigerio, Alice, Wright, Karol, Wooderchak-Donahue, Whitney, Tan, Oon T., Margraf, Rebecca, Stevenson, David A., Grimmer, J. Fredrik, Bayrak-Toydemir, Pinar
Publicado no PLoS One (2015)

Utilization of Whole-Exome Next-Generation Sequencing Variant Read Frequency for Detection of Lesion-Specific, Somatic Loss of Heterozygosity in a Neurofibromatosis Type 1 Cohort w...

Por Margraf, Rebecca L., VanSant-Webb, Chad, Sant, David, Carey, John, Hanson, Heather, D'Astous, Jacques, Viskochil, Dave, Stevenson, David A., Mao, Rong
Publicado no J Mol Diagn (2017)

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)

Neurofibromin Deficiency-Associated Transcriptional Dysregulation Suggests a Novel Therapy for Tibial Pseudoarthrosis in NF1

Por Paria, Nandina, Cho, Tae-Joon, Choi, In Ho, Kamiya, Nobuhiro, Kayembe, Kay, Mao, Rong, Margraf, Rebecca L., Obermosser, Gerlinde, Oxendine, Ila, Sant, David W., Song, Mi Hyun, Stevenson, David A., Viskochil, David H., Wise, Carol A., Kim, Harry K.W., Rios, Jonathan J
Publicado no J Bone Miner Res (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

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