Search Results - "Margraf, Rebecca L." :: K.UTB vyhledávací portál | TBU Library Retrieval Portal

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

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

by 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
Published in American journal of human genetics (03.04.2014)

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

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

by 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.
Published in American journal of human genetics (07.11.2013)

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

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

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, Srivastava, Deepak, Reese, Martin G, Jorde, Lynn B, Yandell, Mark, Huff, Chad D
Published in Nature biotechnology (01.07.2014)

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Predicting phenotypic severity of uncertain gene variants in the RET proto-oncogene

Predicting phenotypic severity of uncertain gene variants in the RET proto-oncogene

by Crockett, David K, Piccolo, Stephen R, Ridge, Perry G, Margraf, Rebecca L, Lyon, Elaine, Williams, Marc S, Mitchell, Joyce A
Published in PloS one (30.03.2011)

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

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

by Coonrod, Emily M, Margraf, Rebecca L, Russell, Archie, Voelkerding, Karl V, Reese, Martin G
Published in Expert review of molecular diagnostics (01.07.2013)

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Characterization of Aberrant Melting Peaks in Unlabeled Probe Assays

Characterization of Aberrant Melting Peaks in Unlabeled Probe Assays

by Dames, Shale, Margraf, Rebecca L, Pattison, David C, Wittwer, Carl T, Voelkerding, Karl V
Published in The Journal of molecular diagnostics : JMD (01.07.2007)

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Multiple endocrine neoplasia type 2 (MEN2) and RET specific modifications of the ACMG/AMP variant classification guidelines and impact on the MEN2 RET database

Multiple endocrine neoplasia type 2 (MEN2) and RET specific modifications of the ACMG/AMP variant classification guidelines and impact on the MEN2 RET database

by Margraf, Rebecca L., Alexander, Rachel Z., Fulmer, Makenzie L., Miller, Christine E., Coupal, Elena, Mao, Rong
Published in Human mutation (01.12.2022)

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A Comprehensive Triple-Repeat Primed PCR and a Long-Range PCR Agarose-Based Assay for Improved Genotyping of Guanine-Adenine-Adenine Repeats in Friedreich Ataxia

A Comprehensive Triple-Repeat Primed PCR and a Long-Range PCR Agarose-Based Assay for Improved Genotyping of Guanine-Adenine-Adenine Repeats in Friedreich Ataxia

by Jama, Mohamed, Margraf, Rebecca L., Yu, Ping, Reading, N. Scott, Bayrak-Toydemir, Pinar
Published in The Journal of molecular diagnostics : JMD (01.08.2022)

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

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

by Margraf, Rebecca L, Mao, Rong, Wittwer, Carl T
Published in The Journal of molecular diagnostics : JMD (01.03.2008)

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CXXC5 variant in an immunodeficient patient with a progressive loss of hematopoietic cells

CXXC5 variant in an immunodeficient patient with a progressive loss of hematopoietic cells

by Joshi, Hemant R., Hill, Harry R., Asch, Julie, Margraf, Rebecca L., Coonrod, Emily, Durtschi, Jacob, Zhou, Qin, He, Xiao, Voelkerding, Karl V., Kumánovics, Attila
Published in Journal of allergy and clinical immunology (01.04.2021)

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NF1 Somatic Mutation in Dystrophic Scoliosis

NF1 Somatic Mutation in Dystrophic Scoliosis

by Margraf, Rebecca L., VanSant-Webb, Chad, Mao, Rong, Viskochil, David H., Carey, John, Hanson, Heather, D’Astous, Jacques, Grossmann, Allie, Stevenson, David A.
Published in Journal of molecular neuroscience (01.05.2019)

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

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

by MARGRAF, Rebecca L, ERALI, Maria, LIEW, Michael, WITTWER, Carl T
Published in Journal of Clinical Microbiology (01.10.2004)

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Multiple endocrine neoplasia type 2 RET protooncogene database: Repository of MEN2-associated RET sequence variation and reference for genotype/phenotype correlations

Multiple endocrine neoplasia type 2 RET protooncogene database: Repository of MEN2-associated RET sequence variation and reference for genotype/phenotype correlations

by Margraf, Rebecca L, Crockett, David K, Krautscheid, Patti M.F, Seamons, Ryan, Calderon, Fernanda R.O, Wittwer, Carl T, Mao, Rong
Published in Human mutation (01.04.2009)

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

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

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.
Published in American journal of medical genetics. Part A (01.01.2014)

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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 with Tibial Pseudarthrosis

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 with Tibial Pseudarthrosis

by Margraf, Rebecca L, VanSant-Webb, Chad, Sant, David, Carey, John, Hanson, Heather, D'Astous, Jacques, Viskochil, Dave, Stevenson, David A, Mao, Rong
Published in The Journal of molecular diagnostics : JMD (01.05.2017)

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Evaluation of somatic mutations in tibial pseudarthrosis samples in neurofibromatosis type 1

Evaluation of somatic mutations in tibial pseudarthrosis samples in neurofibromatosis type 1

by Sant, David W, Margraf, Rebecca L, Stevenson, David A, Grossmann, Allie H, Viskochil, David H, Hanson, Heather, Everitt, Melanie D, Rios, Jonathan J, Elefteriou, Florent, Hennessey, Theresa, Mao, Rong
Published in Journal of medical genetics (01.04.2015)

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Developing genome and exome sequencing for candidate gene identification in inherited disorders: an integrated technical and bioinformatics approach

Developing genome and exome sequencing for candidate gene identification in inherited disorders: an integrated technical and bioinformatics approach

by Coonrod, Emily M, Durtschi, Jacob D, Margraf, Rebecca L, Voelkerding, Karl V
Published in Archives of pathology & laboratory medicine (1976) (01.03.2013)

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Transcriptional control of Pactolus: evidence of a negative control region and comparison with its evolutionary paralogue, CD18 (β2 integrin)

Transcriptional control of Pactolus: evidence of a negative control region and comparison with its evolutionary paralogue, CD18 (β2 integrin)

by Hale, J. Scott, Dahlem, Timothy J., Margraf, Rebecca L., Debnath, Irina, Weis, Janis J., Weis, John H.
Published in Journal of leukocyte biology (01.08.2006)

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

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

by 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 KW, Rios, Jonathan J
Published in Journal of bone and mineral research (01.12.2014)

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

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

by Durtschi, Jacob, Margraf, Rebecca L, Coonrod, Emily M, Mallempati, Kalyan C, Voelkerding, Karl V
Published in BMC bioinformatics (01.10.2013)

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