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

بواسطة Margraf, Rebecca L., Mao, Rong, Wittwer, Carl T.
منشور في 2008

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

بواسطة Margraf, Rebecca L., Erali, Maria, Liew, Michael, Wittwer, Carl T.
منشور في 2004

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

بواسطة Margraf, Rebecca L., Mao, Rong, Highsmith, W. Edward, Holtegaard, Leonard M., Wittwer, Carl T.
منشور في 2007

Characterization of Aberrant Melting Peaks in Unlabeled Probe Assays

بواسطة Dames, Shale, Margraf, Rebecca L., Pattison, David C., Wittwer, Carl T., Voelkerding, Karl V.
منشور في 2007

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

بواسطة Coonrod, Emily M, Margraf, Rebecca L, Russell, Archie, Voelkerding, Karl V, Reese, Martin G
منشور في 2013

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

بواسطة Durtschi, Jacob, Margraf, Rebecca L, Coonrod, Emily M, Mallempati, Kalyan C, Voelkerding, Karl V
منشور في 2013

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

بواسطة Margraf, Rebecca L., Durtschi, Jacob D., Dames, Shale, Pattison, David C., Stephens, Jack E., Voelkerding, Karl V.
منشور في 2011

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

بواسطة Margraf, Rebecca L., Durtschi, Jacob D., Dames, Shale, Pattison, David C., Stephens, Jack E., Mao, Rong, Voelkerding, Karl V.
منشور في 2010

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

بواسطة Crockett, David K., Piccolo, Stephen R., Ridge, Perry G., Margraf, Rebecca L., Lyon, Elaine, Williams, Marc S., Mitchell, Joyce A.
منشور في 2011

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...

بواسطة Margraf, Rebecca L., VanSant-Webb, Chad, Sant, David, Carey, John, Hanson, Heather, D'Astous, Jacques, Viskochil, Dave, Stevenson, David A., Mao, Rong
الحاوية / القاعدة J Mol Diagn (2017)

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

بواسطة 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.
الحاوية / القاعدة Child Neurol Open (2018)

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

بواسطة 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
منشور في 2014

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

بواسطة 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.
الحاوية / القاعدة Am J Med Genet A (2013)

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

بواسطة 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
الحاوية / القاعدة J Bone Miner Res (2014)

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

بواسطة 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.
منشور في 2013

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

بواسطة 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
منشور في 2014