Search Results - "Muzny, D M"

CRHR1 genotypes, neural circuits and the diathesis for anxiety and depression by Rogers, J, Raveendran, M, Fawcett, G L, Fox, A S, Shelton, S E, Oler, J A, Cheverud, J, Muzny, D M, Gibbs, R A, Davidson, R J, Kalin, N H

“…The corticotrophin-releasing hormone (CRH) system integrates the stress response and is associated with stress-related psychopathology. Previous reports have…”
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Challenges of Francisella classification exemplified by an atypical clinical isolate by Matz, LM, Kamdar, KY, Holder, ME, Metcalf, GA, Weissenberger, GM, Meng, Q, Vee, V, Han, Y, Muzny, DM, Gibbs, RA, Johnson, CL, Revell, PA, Petrosino, JF

“…The accumulation of sequenced Francisella strains has made it increasingly apparent that the 16S rRNA gene alone is not enough to stratify the Francisella…”
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Whole-exome sequencing points to considerable genetic heterogeneity of cerebral palsy by McMichael, G, Bainbridge, M N, Haan, E, Corbett, M, Gardner, A, Thompson, S, van Bon, B W M, van Eyk, C L, Broadbent, J, Reynolds, C, O'Callaghan, M E, Nguyen, L S, Adelson, D L, Russo, R, Jhangiani, S, Doddapaneni, H, Muzny, D M, Gibbs, R A, Gecz, J, MacLennan, A H

“…Cerebral palsy (CP) is a common, clinically heterogeneous group of disorders affecting movement and posture. Its prevalence has changed little in 50 years and…”
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Whole-Exome Sequencing Identifies Novel Variants for Tooth Agenesis by Dinckan, N., Du, R., Petty, L.E., Coban-Akdemir, Z., Jhangiani, S.N., Paine, I., Baugh, E.H., Erdem, A.P., Kayserili, H., Doddapaneni, H., Hu, J., Muzny, D.M., Boerwinkle, E., Gibbs, R.A., Lupski, J.R., Uyguner, Z.O., Below, J.E., Letra, A.

“…Tooth agenesis is a common craniofacial abnormality in humans and represents failure to develop 1 or more permanent teeth. Tooth agenesis is complex, and…”
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A recombination hotspot responsible for two inherited peripheral neuropathies is located near a mariner transposon-like element by Reiter, Lawrence T, Murakami, Tatsufumi, Koeuth, Thearith, Pentao, Liu, Muzny, Donna M, Gibbs, Richard A, Lupski, James R

“…The Charcot-Marie Tooth disease type 1A (CMT1A) duplication and hereditary neuropathy with liability to pressure palsies (HNPP) deletion are reciprocal…”
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Urate Oxidase: Primary Structure and Evolutionary Implications by Wu, Xiangwei, Lee, Cheng Chi, Muzny, Donna M., Caskey, C. Thomas

“…Urate oxidase, or uricase (EC 1.7.3.3), is a peroxisomal enzyme that catalyzes the oxidation of uric acid to allantoin in most mammals. In humans and certain…”
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Vaccine‐associated varicella and rubella infections in severe combined immunodeficiency with isolated CD4 lymphocytopenia and mutations in IL7R detected by tandem whole exome sequencing and chromosomal microarray by Bayer, D. K., Martinez, C. A., Sorte, H. S., Forbes, L. R., Demmler‐Harrison, G. J., Hanson, I. C., Pearson, N. M., Noroski, L. M., Zaki, S. R., Bellini, W. J., Leduc, M. S., Yang, Y., Eng, C. M., Patel, A., Rodningen, O. K., Muzny, D. M., Gibbs, R. A., Campbell, I. M., Shaw, C. A., Baker, M. W., Zhang, V., Lupski, J. R., Orange, J. S., Seeborg, F. O., Stray‐Pedersen, A.

“…Summary In areas without newborn screening for severe combined immunodeficiency (SCID), disease‐defining infections may lead to diagnosis, and in some cases,…”
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Next‐generation sequencing study finds an excess of rare, coding single‐nucleotide variants of ADAMTS13 in patients with deep vein thrombosis by Lotta, L. A., Tuana, G., Yu, J., Martinelli, I., Wang, M., Yu, F., Passamonti, S. M., Pappalardo, E., Valsecchi, C., Scherer, S. E., Hale, W., Muzny, D. M., Randi, G., Rosendaal, F. R., Gibbs, R. A., Peyvandi, F.

“…Summary Background The considerable genetic predisposition to deep vein thrombosis (DVT) is only partially accounted for by known genetic risk variants. Rare…”
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The relationship of JAK2(V617F) and acquired UPD at chromosome 9p in polycythemia vera by Wang, L, Swierczek, S I, Lanikova, L, Kim, S J, Hickman, K, Walker, K, Wang, K, Drummond, J, Doddapaneni, H, Reid, J G, Muzny, D M, Gibbs, R A, Wheeler, D A, Prchal, J T

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Whole-exome sequencing of polycythemia vera revealed novel driver genes and somatic mutation shared by T cells and granulocytes by Wang, L, Swierczek, S I, Drummond, J, Hickman, K, Kim, SJ, Walker, K, Doddapaneni, H, Muzny, D M, Gibbs, R A, Wheeler, D A, Prchal, J T

“…To better understand the underlying molecular basis of polycythemia vera (PV), we performed whole-exome sequencing and DNA copy-number analysis of 31 JAK2…”
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Molecular and phenotypic variation in patients with severe Hunter syndrome by TIMMS, K. M, BONDESON, M.-L, ALL ANSARI-LARI, M, LAGERSTEDT, K, MUZNY, D. M, DUGAN-ROCHA, S. P, NELSON, D. L, PETTERSSON, U, GIBBS, R. A

“…Severe Hunter syndrome is a fatal X-linked lysosomal storage disorder caused by iduronate-2-sulphatase (IDS) deficiency. Patients with complete deletion of the…”
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Scanning Detection of Mutations in Human Ornithine Transcarbamoylase by Chemical Mismatch Cleavage by Grompe, Markus, Muzny, Donna M., Caskey, C. Thomas

“…The mutations in X chromosome-linked diseases are frequently heterogeneous, and yet only a small fraction can be detected by Southern analysis. We therefore…”
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Deep resequencing and association analysis of schizophrenia candidate genes by Crowley, J J, Hilliard, C E, Kim, Y, Morgan, M B, Lewis, L R, Muzny, D M, Hawes, A C, Sabo, A, Wheeler, D A, Lieberman, J A, Sullivan, P F, Gibbs, R A

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A gene-rich cluster between the CD4 and triosephosphate isomerase genes at human chromosome 12p13 by Ansari-Lari, M A, Muzny, D M, Lu, J, Lu, F, Lilley, C E, Spanos, S, Malley, T, Gibbs, R A

“…The genomic sequence of the human CD4 gene and its neighboring region, located at chromosome 12p13, was generated using the large-scale shotgun sequencing…”
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Generation of cDNA Probes Directed by Amino Acid Sequence: Cloning of Urate Oxidase by Lee, Cheng Chi, Wu, Xiangwei, Gibbs, Richard A., Cook, Richard G., Muzny, Donna M., Caskey, C. Thomas

“…Urate oxidase (E.C. 1.7.3.3) catalyzes the oxidation of uric acid to allantoin in most mammals except humans and certain primates. The amino-terminal amino…”
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High-Quality Draft Genome Sequence of Francisella tularensis subsp. holarctica Strain OR96-0246 by Atkins, L M, Holder, M E, Ajami, N J, Metcalf, G A, Weissenberger, G M, Wang, M, Vee, V, Han, Y, Muzny, D M, Gibbs, R A, Petrosino, J F

“…The bacterial pathogen Francisella tularensis was recently renewed as a tier-one select agent. F. tularensis subsp. tularensis (type A) and holarctica (type B)…”
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Large-scale concatenation cDNA sequencing by Yu, W, Andersson, B, Worley, K C, Muzny, D M, Ding, Y, Liu, W, Ricafrente, J Y, Wentland, M A, Lennon, G, Gibbs, R A

“…A total of 100 kb of DNA derived from 69 individual human brain cDNA clones of 0.7-2.0 kb were sequenced by concatenated cDNA sequencing (CCS), whereby…”
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Method for 96-well M13 DNA template preparations for large-scale sequencing by Andersson, B, Lu, J, Edwards, K E, Muzny, D M, Gibbs, R A

“…Efficient preparation of DNA templates is an important step in large-scale DNA sequencing. The ensure high-quality sequence data, we have prepared M13 phage…”
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The Chinese hamster HPRT gene: restriction map, sequence analysis, and multiplex PCR deletion screen by Rossiter, B J, Fuscoe, J C, Muzny, D M, Fox, M, Caskey, C T

“…The fine structure of the Chinese hamster hypoxanthine guanine phosphoribosyltransferase (HPRT) gene has been determined; the gene has nine exons and is…”
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Characterization of recombinant helper retroviruses from Moloney-based vectors in ecotropic and amphotropic packaging cell lines by Scarpa, M, Cournoyer, D, Muzny, D M, Moore, K A, Belmont, J W, Caskey, C T

“…We have characterized the recombinant replication-competent retrovirus (RCV) arising from p delta N2-derived vectors in the packaging cell lines psi 2…”
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