Search Results - "Wang, Richard T"

Diagnostic utility of transcriptome sequencing for rare Mendelian diseases by Lee, Hane, Huang, Alden Y., Wang, Lee-kai, Yoon, Amanda J., Renteria, Genecee, Eskin, Ascia, Signer, Rebecca H., Dorrani, Naghmeh, Nieves-Rodriguez, Shirley, Wan, Jijun, Douine, Emilie D., Woods, Jeremy D., Dell’Angelica, Esteban C., Fogel, Brent L., Martin, Martin G., Butte, Manish J., Parker, Neil H., Wang, Richard T., Shieh, Perry B., Wong, Derek A., Gallant, Natalie, Singh, Kathryn E., Tavyev Asher, Y. Jane, Sinsheimer, Janet S., Krakow, Deborah, Loo, Sandra K., Allard, Patrick, Papp, Jeanette C., Palmer, Christina, Martinez-Agosto, Julian A., Nelson, Stanley F.

“…We investigated the value of transcriptome sequencing (RNAseq) in ascertaining the consequence of DNA variants on RNA transcripts to improve the diagnostic…”
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Next-generation mapping: a novel approach for detection of pathogenic structural variants with a potential utility in clinical diagnosis by Barseghyan, Hayk, Tang, Wilson, Wang, Richard T, Almalvez, Miguel, Segura, Eva, Bramble, Matthew S, Lipson, Allen, Douine, Emilie D, Lee, Hane, Délot, Emmanuèle C, Nelson, Stanley F, Vilain, Eric

“…Massively parallel DNA sequencing, such as exome sequencing, has become a routine clinical procedure to identify pathogenic variants responsible for a…”
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Transcriptomic analysis of paired healthy human skeletal muscles to identify modulators of disease severity in DMD by Nieves-Rodriguez, Shirley, Barthélémy, Florian, Woods, Jeremy D, Douine, Emilie D, Wang, Richard T, Scripture-Adams, Deirdre D, Chesmore, Kevin N, Galasso, Francesca, Miceli, M Carrie, Nelson, Stanley F

“…Muscle damage and fibro-fatty replacement of skeletal muscles is a main pathologic feature of Duchenne muscular dystrophy (DMD) with more proximal muscles…”
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Dantrolene enhances antisense-mediated exon skipping in human and mouse models of Duchenne muscular dystrophy by Kendall, Genevieve C, Mokhonova, Ekaterina I, Moran, Miriana, Sejbuk, Natalia E, Wang, Derek W, Silva, Oscar, Wang, Richard T, Martinez, Leonel, Lu, Qi L, Damoiseaux, Robert, Spencer, Melissa J, Nelson, Stanley F, Miceli, M Carrie

“…Duchenne muscular dystrophy (DMD) causes profound and progressive muscle weakness and loss, resulting in early death. DMD is usually caused by frameshifting…”
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Targeting RyR Activity Boosts Antisense Exon 44 and 45 Skipping in Human DMD Skeletal or Cardiac Muscle Culture Models by Barthélémy, Florian, Wang, Richard T., Hsu, Christopher, Douine, Emilie D., Marcantonio, Eugene E., Nelson, Stanley F., Miceli, M. Carrie

“…Systemic delivery of antisense oligonucleotides (AO) for DMD exon skipping has proven effective for reframing DMD mRNA, rescuing dystrophin expression, and…”
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Single nuclei transcriptomics of muscle reveals intra-muscular cell dynamics linked to dystrophin loss and rescue by Scripture-Adams, Deirdre D., Chesmore, Kevin N., Barthélémy, Florian, Wang, Richard T., Nieves-Rodriguez, Shirley, Wang, Derek W., Mokhonova, Ekaterina I., Douine, Emilie D., Wan, Jijun, Little, Isaiah, Rabichow, Laura N., Nelson, Stanley F., Miceli, M. Carrie

“…In Duchenne muscular dystrophy, dystrophin loss leads to chronic muscle damage, dysregulation of repair, fibro-fatty replacement, and weakness. We develop…”
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Effects of genome-wide copy number variation on expression in mammalian cells by Wang, Richard T, Ahn, Sangtae, Park, Christopher C, Khan, Arshad H, Lange, Kenneth, Smith, Desmond J

“…There is only a limited understanding of the relation between copy number and expression for mammalian genes. We fine mapped cis and trans regulatory loci due…”
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Cookies and wires: Can Facebook lure users into divulging information under the Wiretap Act's party exception? by Wang, Richard T

“…The advent of the Internet brought immeasurable benefits to society in various ways-providing convenient access to information, facilitating the purchase and…”
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Delays in diagnosis of Duchenne muscular dystrophy: An evaluation of genotypic and sociodemographic factors by Counterman, Kevin J., Furlong, Pat, Wang, Richard T., Martin, Ann S.

“…Introduction In this study we investigate associations between genotypic and sociodemographic factors and the age of diagnosis of Duchenne muscular dystrophy…”
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DMD genotype correlations from the Duchenne Registry: Endogenous exon skipping is a factor in prolonged ambulation for individuals with a defined mutation subtype by Wang, Richard T., Barthelemy, Florian, Martin, Ann S., Douine, Emilie D., Eskin, Ascia, Lucas, Ann, Lavigne, Jenifer, Peay, Holly, Khanlou, Negar, Sweeney, Lee, Cantor, Rita M., Miceli, M. Carrie, Nelson, Stanley F.

“…Antisense oligonucleotide (AON)‐mediated exon skipping is an emerging therapeutic for individuals with Duchenne muscular dystrophy (DMD). Skipping of exons…”
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How Partisanship Influences What Congress Says Online and How They Say It by Wang, Richard T., Tucker, Patrick D.

“…We investigate the influence of partisanship on congressional communication by analyzing 180,000 press releases issued by members of Congress (MCs) between…”
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Pooled analysis of radiation hybrids identifies loci for growth and drug action in mammalian cells by Khan, Arshad H, Lin, Andy, Wang, Richard T, Bloom, Joshua S, Lange, Kenneth, Smith, Desmond J

“…Genetic screens in mammalian cells commonly focus on loss-of-function approaches. To evaluate the phenotypic consequences of extra gene copies, we used bulk…”
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Directed mammalian gene regulatory networks using expression and comparative genomic hybridization microarray data from radiation hybrids by Ahn, Sangtae, Wang, Richard T, Park, Christopher C, Lin, Andy, Leahy, Richard M, Lange, Kenneth, Smith, Desmond J

“…Meiotic mapping of quantitative trait loci regulating expression (eQTLs) has allowed the construction of gene networks. However, the limited mapping resolution…”
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Evaluating Genetic Modifiers of Duchenne Muscular Dystrophy Disease Progression Using Modeling and MRI by Barnard, Alison M., Hammers, David W., Triplett, William T., Kim, Sarah, Forbes, Sean C., Willcocks, Rebecca J., Daniels, Michael J., Senesac, Claudia R., Lott, Donovan J., Arpan, Ishu, Rooney, William D., Wang, Richard T., Nelson, Stanley F., Sweeney, H. Lee, Vandenborne, Krista, Walter, Glenn A.

“…Duchenne muscular dystrophy (DMD) is a progressive muscle degenerative disorder with a well-characterized disease phenotype but considerable interindividual…”
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A genome-wide map of human genetic interactions inferred from radiation hybrid genotypes by Lin, Andy, Wang, Richard T, Ahn, Sangtae, Park, Christopher C, Smith, Desmond J

“…Using radiation hybrid genotyping data, 99% of all possible gene pairs across the mammalian genome were tested for interactions based on co-retention…”
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What can Duchenne Connect teach us about treating Duchenne muscular dystrophy? by Wang, Richard T, Nelson, Stanley F

“…This review aims to describe the benefits and limitations of using the Duchenne Connect patient registry to provide information particularly in regard to…”
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Fine mapping of regulatory loci for mammalian gene expression using radiation hybrids by Wang, Richard T, Wu, Tongtong, Smith, Desmond J, Ahn, Sangtae, Lusis, Aldons J, Lange, Kenneth, Farr, Christine J, Park, Christopher C, Sekar, Aswin, Leahy, Richard M, Bloom, Joshua S, Lin, Andy, Khan, Arshad H

“…We mapped regulatory loci for nearly all protein-coding genes in mammals using comparative genomic hybridization and expression array measurements from a panel…”
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COOKIES AND WIRES: CAN FACEBOOK LURE USERS INTO DIVULGING INFORMATION UNDER THE WIRETAP ACT'S PARTY EXCEPTION? by Wang, Richard T

“…Wang analyzes the circuit split regarding the Wiretap Act's party exception and cookies, and recommends a framework to aid in the application of the Wiretap…”
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Online self-report data for duchenne muscular dystrophy confirms natural history and can be used to assess for therapeutic benefits by Wang, Richard T, Silverstein Fadlon, Cheri A, Ulm, J Wes, Jankovic, Ivana, Eskin, Ascia, Lu, Ake, Rangel Miller, Vanessa, Cantor, Rita M, Li, Ning, Elashoff, Robert, Martin, Anne S, Peay, Holly L, Halnon, Nancy, Nelson, Stanley F

“…To assess the utility of online patient self-report outcomes in a rare disease, we attempted to observe the effects of corticosteroids in delaying age at…”
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Light Harvesting in Anacystis nidulans Studied in Pigment Mutants by Myers, Jack, Jo-Ruth Graham, Richard T. Wang

“…Spontaneous pigment mutants of Anacystis nidulans were self-selected for improved growth in far red light (> 650 nanometers). Questions were asked about those…”
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