Search Results - "Taylor, S. Paige"

Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies by Zhang, Wenjuan, Taylor, S. Paige, Ennis, Hayley A., Forlenza, Kimberly N., Duran, Ivan, Li, Bing, Sanchez, Jorge A. Ortiz, Nevarez, Lisette, Nickerson, Deborah A., Bamshad, Michael, Lachman, Ralph S., Krakow, Deborah, Cohn, Daniel H.

“…Defects in the biosynthesis and/or function of primary cilia cause a spectrum of disorders collectively referred to as ciliopathies. A subset of these…”
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An inactivating mutation in intestinal cell kinase, ICK, impairs hedgehog signalling and causes short rib-polydactyly syndrome by Paige Taylor, S, Kunova Bosakova, Michaela, Varecha, Miroslav, Balek, Lukas, Barta, Tomas, Trantirek, Lukas, Jelinkova, Iva, Duran, Ivan, Vesela, Iva, Forlenza, Kimberly N, Martin, Jorge H, Hampl, Ales, Bamshad, Michael, Nickerson, Deborah, Jaworski, Margie L, Song, Jieun, Ko, Hyuk Wan, Cohn, Daniel H, Krakow, Deborah, Krejci, Pavel

“…The short rib polydactyly syndromes (SRPS) are a group of recessively inherited, perinatal-lethal skeletal disorders primarily characterized by short ribs,…”
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Destabilization of the IFT-B cilia core complex due to mutations in IFT81 causes a Spectrum of Short-Rib Polydactyly Syndrome by Duran, Ivan, Taylor, S. Paige, Zhang, Wenjuan, Martin, Jorge, Forlenza, Kimberly N., Spiro, Rhonda P., Nickerson, Deborah A., Bamshad, Michael, Cohn, Daniel H., Krakow, Deborah

“…Short-rib polydactyly syndromes (SRPS) and Asphyxiating thoracic dystrophy (ATD) or Jeune Syndrome are recessively inherited skeletal ciliopathies…”
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Mutations in GRK2 cause Jeune syndrome by impairing Hedgehog and canonical Wnt signaling by Bosakova, Michaela, Abraham, Sara P, Nita, Alexandru, Hruba, Eva, Buchtova, Marcela, Taylor, S Paige, Duran, Ivan, Martin, Jorge, Svozilova, Katerina, Barta, Tomas, Varecha, Miroslav, Balek, Lukas, Kohoutek, Jiri, Radaszkiewicz, Tomasz, Pusapati, Ganesh V, Bryja, Vitezslav, Rush, Eric T, Thiffault, Isabelle, Nickerson, Deborah A, Bamshad, Michael J, Rohatgi, Rajat, Cohn, Daniel H, Krakow, Deborah, Krejci, Pavel

“…Mutations in genes affecting primary cilia cause ciliopathies, a diverse group of disorders often affecting skeletal development. This includes Jeune syndrome…”
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Rich annotation of DNA sequencing variants by leveraging the Ensembl Variant Effect Predictor with plugins by Yourshaw, Michael, Taylor, S Paige, Rao, Aliz R, Martín, Martín G, Nelson, Stanley F

“…High-throughput DNA sequencing has become a mainstay for the discovery of genomic variants that may cause disease or affect phenotype. A next-generation…”
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Biallelic mutations in LAMA5 disrupts a skeletal noncanonical focal adhesion pathway and produces a distinct bent bone dysplasia by Barad, Maya, Csukasi, Fabiana, Bosakova, Michaela, Martin, Jorge H., Zhang, Wenjuan, Paige Taylor, S., Lachman, Ralph S., Zieba, Jennifer, Bamshad, Michael, Nickerson, Deborah, Chong, Jessica X., Cohn, Daniel H., Krejci, Pavel, Krakow, Deborah, Duran, Ivan

“…Beyond its structural role in the skeleton, the extracellular matrix (ECM), particularly basement membrane proteins, facilitates communication with…”
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The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery by Toriyama, Michinori, Lee, Chanjae, Taylor, S Paige, Duran, Ivan, Cohn, Daniel H, Bruel, Ange-Line, Tabler, Jacqueline M, Drew, Kevin, Kelly, Marcus R, Kim, Sukyoung, Park, Tae Joo, Braun, Daniela A, Pierquin, Ghislaine, Biver, Armand, Wagner, Kerstin, Malfroot, Anne, Panigrahi, Inusha, Franco, Brunella, Al-lami, Hadeel Adel, Yeung, Yvonne, Choi, Yeon Ja, Duffourd, Yannis, Faivre, Laurence, Rivière, Jean-Baptiste, Chen, Jiang, Liu, Karen J, Marcotte, Edward M, Hildebrandt, Friedhelm, Thauvin-Robinet, Christel, Krakow, Deborah, Jackson, Peter K, Wallingford, John B

“…John Wallingford and colleagues combine proteomics, in vivo imaging and genetic analyses to identify a new ciliopathy-associated protein module, which they…”
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IFT52 mutations destabilize anterograde complex assembly, disrupt ciliogenesis and result in short rib polydactyly syndrome by Zhang, Wenjuan, Taylor, S Paige, Nevarez, Lisette, Lachman, Ralph S, Nickerson, Deborah A, Bamshad, Michael, Krakow, Deborah, Cohn, Daniel H

“…The short-rib polydactyly syndromes (SRPS) encompass a radiographically and genetically heterogeneous group of skeletal ciliopathies that are characterized by…”
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Mutations in DYNC2LI1 disrupt cilia function and cause short rib polydactyly syndrome by Taylor, S. Paige, Dantas, Tiago J., Duran, Ivan, Wu, Sulin, Lachman, Ralph S., Nelson, Stanley F., Cohn, Daniel H., Vallee, Richard B., Krakow, Deborah

“…The short rib polydactyly syndromes (SRPSs) are a heterogeneous group of autosomal recessive, perinatal lethal skeletal disorders characterized primarily by…”
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Correction: Sherloc: a comprehensive refinement of the ACMG–AMP variant classification criteria by Nykamp, Keith, Anderson, Michael, Powers, Martin, Garcia, John, Herrera, Blanca, Ho, Yuan-Yuan, Kobayashi, Yuya, Patil, Nila, Thusberg, Janita, Westbrook, Marjorie, Topper, Scott

“…An amendment to this paper has been published and can be accessed via a link at the top of the paper…”
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Mutations in IFT-A satellite core component genes IFT43 and IFT121 produce short rib polydactyly syndrome with distinctive campomelia by Duran, Ivan, Taylor, S Paige, Zhang, Wenjuan, Martin, Jorge, Qureshi, Faisal, Jacques, Suzanne M, Wallerstein, Robert, Lachman, Ralph S, Nickerson, Deborah A, Bamshad, Michael, Cohn, Daniel H, Krakow, Deborah

“…Skeletal ciliopathies comprise a spectrum of ciliary malfunction disorders that have a profound effect on the skeleton. Most common among these disorders is…”
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Corrigendum: The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery by Toriyama, Michinori, Lee, Chanjae, Taylor, S Paige, Duran, Ivan, Cohn, Daniel H, Bruel, Ange-Line, Tabler, Jacqueline M, Drew, Kevin, Kelly, Marcus R, Kim, Sukyoung, Park, Tae Joo, Braun, Daniela A, Pierquin, Ghislaine, Biver, Armand, Wagner, Kerstin, Malfroot, Anne, Panigrahi, Inusha, Franco, Brunella, Al-Lami, Hadeel Adel, Yeung, Yvonne, Choi, Yeon Ja, Duffourd, Yannis, Faivre, Laurence, Rivière, Jean-Baptiste, Chen, Jiang, Liu, Karen J, Marcotte, Edward M, Hildebrandt, Friedhelm, Thauvin-Robinet, Christel, Krakow, Deborah, Jackson, Peter K, Wallingford, John B

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Erratum: Corrigendum: The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery by Toriyama, Michinori, Lee, Chanjae, Taylor, S Paige, Duran, Ivan, Cohn, Daniel H, Bruel, Ange-Line, Tabler, Jacqueline M, Drew, Kevin, Kelly, Marcus R, Kim, Sukyoung, Park, Tae Joo, Braun, Daniela A, Pierquin, Ghislaine, Biver, Armand, Wagner, Kerstin, Malfroot, Anne, Panigrahi, Inusha, Franco, Brunella, Al-lami, Hadeel Adel, Yeung, Yvonne, Choi, Yeon Ja, Duffourd, Yannis, Faivre, Laurence, Rivière, Jean-Baptiste, Chen, Jiang, Liu, Karen J, Marcotte, Edward M, Hildebrandt, Friedhelm, Thauvin-Robinet, Christel, Krakow, Deborah, Jackson, Peter K, Wallingford, John B

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Corrigendum: TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport by Schmidts, Miriam, Hou, Yuqing, Cortés, Claudio R, Mans, Dorus A, Huber, Celine, Boldt, Karsten, Patel, Mitali, van Reeuwijk, Jeroen, Plaza, Jean-Marc, van Beersum, Sylvia E C, Yap, Zhi Min, Letteboer, Stef J F, Taylor, S Paige, Herridge, Warren, Johnson, Colin A, Scambler, Peter J, Ueffing, Marius, Kayserili, Hulya, Krakow, Deborah, King, Stephen M, Beales, Philip L, Al-Gazali, Lihadh, Wicking, Carol, Cormier-Daire, Valerie, Roepman, Ronald, Mitchison, Hannah M, Witman, George B

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Correction: Corrigendum: The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery by Toriyama, Michinori, Lee, Chanjae, Taylor, S Paige, Duran, Ivan, Cohn, Daniel H, Bruel, Ange-Line, Tabler, Jacqueline M, Drew, Kevin, Kelly, Marcus R, Kim, Sukyoung, Park, Tae Joo, Braun, Daniela A, Pierquin, Ghislaine, Biver, Armand, Wagner, Kerstin, Malfroot, Anne, Panigrahi, Inusha, Franco, Brunella, Al-lami, Hadeel Adel, Yeung, Yvonne, Choi, Yeon Ja, Duffourd, Yannis, Faivre, Laurence, Rivière, Jean-Baptiste, Chen, Jiang, Liu, Karen J, Marcotte, Edward M, Hildebrandt, Friedhelm, Thauvin-Robinet, Christel, Krakow, Deborah, Jackson, Peter K, Wallingford, John B

“…Nat. Genet. 48, 648–656 (2016); published online 9 May 2016; corrected after print 30 May 2016 In the version of this article initially published, the name of…”
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Analysis of Performance and Failure Modes of the IROC Proton Liver Phantom by Mehrens, Hunter, Taylor, Paige, Alvarez, Paola, Kry, Stephen

“…To analyze trends in institutional performance and failure modes for the Imaging and Radiation Oncology Core's (IROC's) proton liver phantom. Results of 66…”
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Results From the Imaging and Radiation Oncology Core Houston's Anthropomorphic Phantoms Used for Proton Therapy Clinical Trial Credentialing by Taylor, Paige A., MS, Kry, Stephen F., PhD, Alvarez, Paola, MS, Keith, Tyler, BS, Lujano, Carrie, BS, Hernandez, Nadia, BS, Followill, David S., PhD

“…Purpose The purpose of this study was to summarize the findings of anthropomorphic proton phantom irradiations analyzed by the Imaging and Radiation Oncology…”
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Agreement Between Institutional Measurements and Treatment Planning System Calculations for Basic Dosimetric Parameters as Measured by the Imaging and Radiation Oncology Core-Houston by Kerns, James R., MS, Followill, David S., PhD, Lowenstein, Jessica, MS, Molineu, Andrea, MS, Alvarez, Paola, MS, Taylor, Paige A., MS, Kry, Stephen F., PhD

“…Purpose To compare radiation machine measurement data collected by the Imaging and Radiation Oncology Core at Houston (IROC-H) with institutional treatment…”
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NRG Oncology Survey of Monte Carlo Dose Calculation Use in US Proton Therapy Centers by Lin, Liyong, Taylor, Paige A, Shen, Jiajian, Saini, Jatinder, Kang, Minglei, Simone, 2nd, Charles B, Bradley, Jeffrey D, Li, Zuofeng, Xiao, Ying

“…Monte Carlo (MC) dose calculation has appeared in primary commercial treatment-planning systems and various in-house platforms. Dual-energy computed tomography…”
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