Search Results - "Braun, T A"

CEP290 gene transfer rescues Leber congenital amaurosis cellular phenotype by Burnight, E R, Wiley, L A, Drack, A V, Braun, T A, Anfinson, K R, Kaalberg, E E, Halder, J A, Affatigato, L M, Mullins, R F, Stone, E M, Tucker, B A

“…Mutations in CEP290 are the most common cause of Leber congenital amaurosis (LCA), a severe inherited retinal degenerative disease for which there is currently…”
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CF Lung Transplant Survival by Surrogate Markers for Socioeconomic Status by Samuels, R.W., Braun, A.T., Nolley, E.P., Shah, P.D., Bush, E.L., Merlo, C.A.

“…Studies have shown that markers of socioeconomic status (SES) such as education level and non-private insurance status associate with decreased medical…”
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Pooled library tissue tags for EST-based gene discovery by Gavin, A. J., Scheetz, T. E., Roberts, C. A., O'Leary, B., Braun, T. A., Sheffield, V. C., Soares, M. B., Robinson, J. P., Casavant, T. L.

“…Motivation: In gene discovery projects based on EST sequencing, effective post-sequencing identification methods are important in determining tissue sources of…”
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Missense Variations in the Fibulin 5 Gene and Age-Related Macular Degeneration by Stone, Edwin M, Braun, Terry A, Russell, Stephen R, Kuehn, Markus H, Lotery, Andrew J, Moore, Paula A, Eastman, Christopher G, Casavant, Thomas L, Sheffield, Val C

“…Age-related macular degeneration (AMD) is common, affecting approximately 7 million people in the United States. However, knowledge of its causes is scant…”
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Testing a non-local 1-equation turbulent convection model: A solar model by Braun, T. A. M, Ahlborn, F, Weiss, A

“…A&A 689, A292 (2024) Turbulent convection models treat stellar convection more physically than standard mixing-length theory by including non-local effects. We…”
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Reductions in dead space ventilation with nasal high flow depend on physiological dead space volume: metabolic hood measurements during sleep in patients with COPD and controls by Biselli, Paolo, Fricke, Kathrin, Grote, Ludger, Braun, Andrew T, Kirkness, Jason, Smith, Philip, Schwartz, Alan, Schneider, Hartmut

“…Nasal high flow (NHF) reduces minute ventilation and ventilatory loads during sleep but the mechanisms are not clear. We hypothesised NHF reduces ventilation…”
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ESTprep: preprocessing cDNA sequence reads by Scheetz, Todd E., Trivedi, Nishank, Roberts, Chad A., Kucaba, Tamara, Berger, Brian, Robinson, Natalie L., Birkett, Clayton L., Gavin, Allen J., O’Leary, Brian, Braun, Terry A., Bonaldo, Maria F., Robinson, John P., Sheffield, Val C., Soares, Marcelo B., Casavant, Thomas L.

“…Motivation: High accuracy of data always governs the large-scale gene discovery projects. The data should not only be trustworthy but should be correctly…”
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Gene transcript clustering: a comparison of parallel approaches by Scheetz, Todd E., Trivedi, Nishank, Pedretti, Kevin T., Braun, Terry A., Casavant, Thomas L.

“…One of the fundamental components of large-scale gene discovery projects is that of clustering of expressed sequence tags (ESTs) from complementary DNA (cDNA)…”
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Prioritization of Retinal Disease Genes: An Integrative Approach by Wagner, Alex H., Taylor, Kyle R., DeLuca, Adam P., Casavant, Thomas L., Mullins, Robert F., Stone, Edwin M., Scheetz, Todd E., Braun, Terry A.

“…ABSTRACT The discovery of novel disease‐associated variations in genes is often a daunting task in highly heterogeneous disease classes. We seek a…”
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Low-period spacing core-helium burning giants: `hot subdwarf analogues'? by Hekker, S, Elsworth, Y, Braun, T. A. M, Basu, S

“…Global stellar oscillations probe the internal structure of stars. In low- to intermediate-mass red giants, these oscillations provide signatures from both the…”
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Homozygosity Mapping with SNP Arrays Identifies TRIM32, an E3 Ubiquitin Ligase, as a Bardet-Biedl Syndrome Gene (BBS11) by Chiang, Annie P., Beck, John S., Yen, Hsan-Jan, Tayeh, Marwan K., Scheetz, Todd E., Swiderski, Ruth E., Nishimura, Darryl Y., Braun, Terry A., Kim, Kwang-Youn A., Huang, Jian, Elbedour, Khalil, Carmi, Rivka, Slusarski, Diane C., Casavant, Thomas L., Stone, Edwin M., Sheffield, Val C.

“…The identification of mutations in genes that cause human diseases has largely been accomplished through the use of positional cloning, which relies on linkage…”
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The bivariate continual reassessment method: extending the CRM to phase I trials of two competing outcomes by Braun, Thomas M.

“…Traditional phase I studies find the therapeutic dose of an investigational drug based solely on toxicity and without regard to the drug's efficacy. We propose…”
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Modeling the impact of run-time uncertainty on optimal computation scheduling using feedback by Dietz, R.D., Casavant, T.L., Scheetz, T.E., Braun, T.A., Andersland, M.S.

“…Increasingly, feedback of measured run-time information is being used in the optimization of computation execution. This paper introduces a model relating the…”
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An autosomal genomic screen for autism

“…Autism is a severe neurodevelopmental disorder defined by social and communication deficits and ritualistic‐repetitive behaviors that are detectable in early…”
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Protein expression in a transformed trabecular meshwork cell line: proteome analysis by Steely, H Thomas, Dillow, Glen W, Bian, Liangqian, Grundstad, Jason, Braun, Terry A, Casavant, Thomas L, McCartney, Mitchell D, Clark, Abbot F

“…Characterization of the human trabecular meshwork (TM) proteome is hindered by the small mass of intact tissue and the slow growth of cultured cell strains. We…”
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Prioritizing regions of candidate genes for efficient mutation screening by Braun, Terry A., Shankar, Suma P., Davis, Steve, O'Leary, Brian, Scheetz, Todd E., Clark, Abbot F., Sheffield, Val C., Casavant, Thomas L., Stone, Edwin M.

“…The availability of the complete sequence of the human genome has dramatically facilitated the search for disease‐causing sequence variations. In fact, the…”
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Missense variations in the fibulin 5 gene and age-related macular degeneration by Stone, E.M., Braun, T.A., Russell, S.R., Kuehn, M.H., Lotery, A.J., Moore, P.A., Eastman, C.G., Casavant, T.L., Sheffield, V.C.

“…A number of studies have suggested that both genetic and environmental factors play a role in age-related macular degeneration (AMD). In this study, the…”
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AudioGene: Computer-based prediction of genetic factors involved in non-syndromic hearing impairment by Taylor, K. R., DeLuca, A. P., Goodman, C. W., Tompkins, B. W., Scheetz, T. E., Hildebrand, M. S., Huygen, P. L. M., Smith, R. J. H., Braun, T. A., Casavant, T. L.

“…AudioGene is a software system developed at the University of Iowa to classify and predict gene mutations that indicate causal or increased risk factors of…”
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Sequencing and disease variation detection tools and techniques by DeLuca, A. P., Wagner, A. H., Taylor, K. R., Faga, B., Thole, D., Sheffield, V. C., Stone, E. M., Casavant, T. L., Scheetz, T. E., Braun, T. A.

“…Next-generation sequencing technology provides greater sequencing capacity to identify disease-causing variations. Currently there are many alignment tools and…”
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Parallel creation of non-redundant gene indices from partial mRNA transcripts by Trivedi, Nishank, Bischof, Jared, Davis, Steve, Pedretti, Kevin, Scheetz, Todd E., Braun, Terry A., Roberts, Chad A., Robinson, Natalie L., Sheffield, Val C., Soares, M.Bento, Casavant, Thomas L.

“…This paper describes the UIcluster software tool, which partitions expressed sequence tag (EST) sequences and other genetic sequences into “clusters” based on…”
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