Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies
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.
Published in Human mutation (01.01.2018)
Published in Human mutation (01.01.2018)
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An inactivating mutation in intestinal cell kinase, ICK, impairs hedgehog signalling and causes short rib-polydactyly syndrome
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
Published in Human molecular genetics (15.09.2016)
Published in Human molecular genetics (15.09.2016)
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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
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
Published in Scientific reports (26.09.2016)
Published in Scientific reports (26.09.2016)
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Mutations in GRK2 cause Jeune syndrome by impairing Hedgehog and canonical Wnt signaling
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
Published in EMBO molecular medicine (06.11.2020)
Published in EMBO molecular medicine (06.11.2020)
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Biallelic mutations in LAMA5 disrupts a skeletal noncanonical focal adhesion pathway and produces a distinct bent bone dysplasia
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
Published in EBioMedicine (01.12.2020)
Published in EBioMedicine (01.12.2020)
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The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery
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
Published in Nature genetics (01.06.2016)
Published in Nature genetics (01.06.2016)
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IFT52 mutations destabilize anterograde complex assembly, disrupt ciliogenesis and result in short rib polydactyly syndrome
Zhang, Wenjuan, Taylor, S Paige, Nevarez, Lisette, Lachman, Ralph S, Nickerson, Deborah A, Bamshad, Michael, Krakow, Deborah, Cohn, Daniel H
Published in Human molecular genetics (15.09.2016)
Published in Human molecular genetics (15.09.2016)
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Mutations in DYNC2LI1 disrupt cilia function and cause short rib polydactyly syndrome
Taylor, S. Paige, Dantas, Tiago J., Duran, Ivan, Wu, Sulin, Lachman, Ralph S., Nelson, Stanley F., Cohn, Daniel H., Vallee, Richard B., Krakow, Deborah
Published in Nature communications (16.06.2015)
Published in Nature communications (16.06.2015)
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Correction: Sherloc: a comprehensive refinement of the ACMG–AMP variant classification criteria
Nykamp, Keith, Anderson, Michael, Powers, Martin, Garcia, John, Herrera, Blanca, Ho, Yuan-Yuan, Kobayashi, Yuya, Patil, Nila, Thusberg, Janita, Westbrook, Marjorie, Topper, Scott
Published in Genetics in medicine (2020)
Published in Genetics in medicine (2020)
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Mutations in IFT-A satellite core component genes IFT43 and IFT121 produce short rib polydactyly syndrome with distinctive campomelia
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
Published in Cilia (London) (10.04.2017)
Published in Cilia (London) (10.04.2017)
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Corrigendum: The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery
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
Published in Nature genetics (01.08.2016)
Published in Nature genetics (01.08.2016)
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Erratum: Corrigendum: The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery
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
Published in Nature genetics (27.07.2016)
Published in Nature genetics (27.07.2016)
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Corrigendum: TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport
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
Published in Nature communications (29.03.2016)
Published in Nature communications (29.03.2016)
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Correction: Corrigendum: The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery
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
Published in Nature genetics (2016)
Published in Nature genetics (2016)
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Results From the Imaging and Radiation Oncology Core Houston's Anthropomorphic Phantoms Used for Proton Therapy Clinical Trial Credentialing
Taylor, Paige A., MS, Kry, Stephen F., PhD, Alvarez, Paola, MS, Keith, Tyler, BS, Lujano, Carrie, BS, Hernandez, Nadia, BS, Followill, David S., PhD
Published in International journal of radiation oncology, biology, physics (01.05.2016)
Published in International journal of radiation oncology, biology, physics (01.05.2016)
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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
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
Published in International journal of radiation oncology, biology, physics (01.08.2016)
Published in International journal of radiation oncology, biology, physics (01.08.2016)
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NRG Oncology Survey of Monte Carlo Dose Calculation Use in US Proton Therapy Centers
Lin, Liyong, Taylor, Paige A, Shen, Jiajian, Saini, Jatinder, Kang, Minglei, Simone, 2nd, Charles B, Bradley, Jeffrey D, Li, Zuofeng, Xiao, Ying
Published in International journal of particle therapy (01.09.2021)
Published in International journal of particle therapy (01.09.2021)
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