Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies von 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.

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An inactivating mutation in intestinal cell kinase, ICK, impairs hedgehog signalling and causes short rib-polydactyly syndrome von 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

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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 von 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

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Mutations in GRK2 cause Jeune syndrome by impairing Hedgehog and canonical Wnt signaling von 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

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Rich annotation of DNA sequencing variants by leveraging the Ensembl Variant Effect Predictor with plugins von Yourshaw, Michael, Taylor, S Paige, Rao, Aliz R, Martín, Martín G, Nelson, Stanley F

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Biallelic mutations in LAMA5 disrupts a skeletal noncanonical focal adhesion pathway and produces a distinct bent bone dysplasia von 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

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The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery von 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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IFT52 mutations destabilize anterograde complex assembly, disrupt ciliogenesis and result in short rib polydactyly syndrome von Zhang, Wenjuan, Taylor, S Paige, Nevarez, Lisette, Lachman, Ralph S, Nickerson, Deborah A, Bamshad, Michael, Krakow, Deborah, Cohn, Daniel H

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Mutations in DYNC2LI1 disrupt cilia function and cause short rib polydactyly syndrome von Taylor, S. Paige, Dantas, Tiago J., Duran, Ivan, Wu, Sulin, Lachman, Ralph S., Nelson, Stanley F., Cohn, Daniel H., Vallee, Richard B., Krakow, Deborah

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Correction: Sherloc: a comprehensive refinement of the ACMG–AMP variant classification criteria von Nykamp, Keith, Anderson, Michael, Powers, Martin, Garcia, John, Herrera, Blanca, Ho, Yuan-Yuan, Kobayashi, Yuya, Patil, Nila, Thusberg, Janita, Westbrook, Marjorie, Topper, Scott

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Mutations in IFT-A satellite core component genes IFT43 and IFT121 produce short rib polydactyly syndrome with distinctive campomelia von 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

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Corrigendum: The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery von 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 von 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 von 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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Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria (vol 74, pg 258, 2019) von Nykamp, Keith, Anderson, Michael, Powers, Martin, Garcia, John, Herrera, Blanca, Ho, Yuan-Yuan, Kobayashi, Yuya, Patil, Nila, Thusberg, Janita, Westbrook, Marjorie, Topper, Scott, Aguilar, Sienna, Aradhya, Swaroop, Beltran, Daniel, Bunker, Brandon, Daly, Amy, Deucher, Anne, Ekstein, Tali, Entezam, Ali, Erhard, Karl, Esplin, Ed, Fulbright, Jennifer, Fuller, Amy, Gibson, Kristen McDonald, Hambuch, Tina, Harte, Rachel, Hartshorne, Christy, Haverfield, Eden, Heidari, Nastaran, Hogue, Michelle, Iacoboni, Daniela, Johnson, Britt, Kang, Hio Chung, Lewis, Rachel, Martin, Shiloh, McCalmon, Sarah, Michalski, Scott, Morgan, Cindy, Murillo, Laura, Nicolosi, Piper, Ouyang, Karen, Pardo, Carolina, Quintana, Rita, Rabideau, Marina, Riethmaier, Darlene, Stafford, Amanda, Tahiliani, Jackie, Tan, Chris, Taylor, S. Paige, Wang, Shu-Huei, White, Hannah, Wilson, Ian, Winder, Tom, Zeman, Michelle K.

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Correction: Corrigendum: The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery von 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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The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery von Toriyama, Michinori, Lee, Chanjae, Taylor, S. Paige, Duran, Ivan, Cohn, Daniel H, Bruel, Ange-Line, Tabler, Jacqueline M, Drew, Kevin, Kelley, Marcus R, Kim, Sukyoung, Park, Tae Joo, Braun, Daniella, 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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Results From the Imaging and Radiation Oncology Core Houston's Anthropomorphic Phantoms Used for Proton Therapy Clinical Trial Credentialing von Taylor, Paige A., MS, Kry, Stephen F., PhD, Alvarez, Paola, MS, Keith, Tyler, BS, Lujano, Carrie, BS, Hernandez, Nadia, BS, Followill, David S., PhD

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Analysis of Performance and Failure Modes of the IROC Proton Liver Phantom von Mehrens, Hunter, Taylor, Paige, Alvarez, Paola, Kry, Stephen

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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-Houst... von 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

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