Výsledky vyhledávání - Patrick R. Blackburn

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  1. 1
    Holocarboxylase synthetase deficiency pre and post newborn screening

    Holocarboxylase synthetase deficiency pre and post newborn screening Autor Taraka Donti, Patrick R. Blackburn, Paldeep S. Atwal

    Vydáno 2016
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  2. 2
    The CRISPR System—Keeping Zebrafish Gene Targeting Fresh

    The CRISPR System—Keeping Zebrafish Gene Targeting Fresh Autor Patrick R. Blackburn, Jarryd M. Campbell, Karl J. Clark, Stephen C. Ekker

    Vydáno 2013
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  3. 3
    Structural Models for the Dynamic Effects of Loss-of-Function Variants in the Human SIM1 Protein Transcriptional Activation Domain

    Structural Models for the Dynamic Effects of Loss-of-Function Variants in the Human SIM1 Protein Transcriptional Activation Domain Autor Matt Coban, Patrick R. Blackburn, Murray L. Whitelaw, Mieke M. van Haelst, Paldeep S. Atwal, Thomas R. Caulfield

    Vydáno 2020
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  4. 4
    PIK3CA mutations in lipomatosis of nerve with or without nerve territory overgrowth

    PIK3CA mutations in lipomatosis of nerve with or without nerve territory overgrowth Autor Patrick R. Blackburn, Dragana Milosevic, Tomáš Marek, Andrew L. Folpe, B. Matthew Howe, Robert J. Spinner, Jodi M. Carter

    Vydáno 2019
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  5. 5
    FusX: A Rapid One-Step Transcription Activator-Like Effector Assembly System for Genome Science

    FusX: A Rapid One-Step Transcription Activator-Like Effector Assembly System for Genome Science Autor C. H. Alvin, Melissa S. McNulty, Tanya L. Poshusta, Jarryd M. Campbell, Gabriel Martínez‐Gálvez, David P. Argue, Han Lee, Mark D. Urban, Cassandra E. Bullard, Patrick R. Blackburn, Toni Ki Fong Man, Karl J. Clark, Stephen C. Ekker

    Vydáno 2016
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  6. 6
    Clonal competition with alternating dominance in multiple myeloma

    Clonal competition with alternating dominance in multiple myeloma Autor Jonathan J. Keats, Marta Chesi, Jan B. Egan, Victoria M. Garbitt, Stephen Palmer, Esteban Braggio, Scott Van Wier, Patrick R. Blackburn, Angela Baker, Angela Dispenzieri, Shaji Kumar, S. Vincent Rajkumar, John D. Carpten, Michael T. Barrett, Rafaël Fonseca, A. Keith Stewart, P. Leif Bergsagel

    Vydáno 2012
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  7. 7
    Activation of P-TEFb by Androgen Receptor-Regulated Enhancer RNAs in Castration-Resistant Prostate Cancer

    Activation of P-TEFb by Androgen Receptor-Regulated Enhancer RNAs in Castration-Resistant Prostate Cancer Autor Yu Zhao, Liguo Wang, Shancheng Ren, Lan Wang, Patrick R. Blackburn, Melissa S. McNulty, Xu Gao, Meng Qiao, Robert L. Vessella, Manish Kohli, Jun Zhang, R. Jeffrey Karnes, Donald J. Tindall, Youngsoo Kim, Robert A. MacLeod, Stephen C. Ekker, Tiebang Kang, Yinghao Sun, Haojie Huang

    Vydáno 2016
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  8. 8
    tp53 deficiency causes a wide tumor spectrum and increases embryonal rhabdomyosarcoma metastasis in zebrafish

    tp53 deficiency causes a wide tumor spectrum and increases embryonal rhabdomyosarcoma metastasis in zebrafish Autor Myron S. Ignatius, Madeline N. Hayes, Finola E. Moore, Qin Tang, Sara P. Garcia, Patrick R. Blackburn, Kunal Baxi, Long Wang, Alexander Jin, Ashwin Ramakrishnan, Sophia M. Reeder, Yidong Chen, G. Petur Nielsen, Eleanor Y. Chen, Robert P. Hasserjian, Franck Tirode, Stephen C. Ekker, David M. Langenau

    Vydáno 2018
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  9. 9
    Bi-allelic Alterations in AEBP1 Lead to Defective Collagen Assembly and Connective Tissue Structure Resulting in a Variant of Ehlers-Danlos Syndrome

    Bi-allelic Alterations in AEBP1 Lead to Defective Collagen Assembly and Connective Tissue Structure Resulting in a Variant of Ehlers-Danlos Syndrome Autor Patrick R. Blackburn, Xu Zhi, Kathleen E. Tumelty, Rose Zhao, William J. Monis, Kimberly G. Harris, Jennifer Gass, Margot A. Cousin, Nicole J. Boczek, Mario Mitkov, Mark A. Cappel, Clair A. Francomano, Joseph E. Parisi, Eric W. Klee, Eissa Faqeih, Fowzan S. Alkuraya, Matthew D. Layne, Nazli B. McDonnell, Paldeep S. Atwal

    Vydáno 2018
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  10. 10
    KAT6A Syndrome: genotype–phenotype correlation in 76 patients with pathogenic KAT6A variants

    KAT6A Syndrome: genotype–phenotype correlation in 76 patients with pathogenic KAT6A variants Autor Joanna Kennedy, David Goudie, Edward Blair, Kate Chandler, Shelagh Joss, Victoria McKay, Andrew Green, Ruth Armstrong, Melissa Lees, Benjamin Kamien, Bruce Hopper, Tiong Yang Tan, Patrick Yap, Zornitza Stark, Nobuhiko Okamoto, Noriko Miyake, Naomichi Matsumoto, Ellen F. Macnamara, Jennifer L. Murphy, Elizabeth M. McCormick, Hákon Hákonarson, Marni J. Falk, Dong Li, Patrick R. Blackburn, Eric W. Klee, Dusica Babovic‐Vuksanovic, Susan Schelley, Louanne Hudgins, Sarina G. Kant, Bertrand Isidor, Benjamin Cogné, Kimberley Bradbury, Mark Williams, Chirag Patel, Helen Heussler, Celia Duff‐Farrier, Phillis Lakeman, Ingrid Scurr, Usha Kini, Mariet Elting, Margot R.F. Reijnders, Janneke Schuurs-Hoeijmakers, Mohamed Wafik, Anne Blomhoff, Claudia Ruivenkamp, Esther Nibbeling, Alexander J.M. Dingemans, Emilie D. Douine, Stanley F. Nelson, Maja Hempel, Tatjana Bierhals, Davor Lessel, Jessika Johannsen, Valerie A. Arboleda, Ruth Newbury‐Ecob

    Vydáno 2018
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  11. 11
    Pathogenic DDX3X Mutations Impair RNA Metabolism and Neurogenesis during Fetal Cortical Development

    Pathogenic DDX3X Mutations Impair RNA Metabolism and Neurogenesis during Fetal Cortical Development Autor Ashley L. Lennox, Mariah L. Hoye, Ruiji Jiang, Bethany Johnson-Kerner, Lindsey Suit, Srivats Venkataramanan, Charles J. Sheehan, Fernando C. Alsina, Brieana Fregeau, Kimberly A. Aldinger, Ching Moey, Iryna Lobach, Alexandra Afenjar, Dusica Babovic‐Vuksanovic, Stéphane Bézieau, Patrick R. Blackburn, Jens Bunt, Lydie Bürglen, Philippe M. Campeau, Perrine Charles, Brian Hon‐Yin Chung, Benjamin Cogné, Cynthia J. Curry, Daniela D’Agostino, Nataliya Di Donato, Laurence Faivre, Delphine Héron, A. Micheil Innes, Bertrand Isidor, Boris Keren, Amy Kimball, Eric W. Klee, Paul Kuentz, Sébastien Küry, Dominique Martin–Coignard, Ghayda Mirzaa, Cyril Mignot, Noriko Miyake, Naomichi Matsumoto, Atsushi Fujita, Caroline Nava, Mathilde Nizon, Diana Rodriguez, Lot Snijders Blok, Christel Thauvin‐Robinet, Julien Thévenon, Marie Vincent, Alban Ziegler, William B. Dobyns, Linda J. Richards, A. James Barkovich, Stephen N. Floor, Debra L. Silver, Elliott H. Sherr

    Vydáno 2020
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  12. 12
    CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum

    CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum Autor Enrico D.H. Konrad, Niels Nardini, Almuth Caliebe, Inga Nagel, Dana Young, Gabriella Horváth, Stephanie L. Santoro, Christine Shuss, Alban Ziegler, Dominique Bonneau, Marlies Kempers, Rolph Pfundt, Eric Legius, Arjan Bouman, Kyra E. Stuurman, Katrin Õunap, Sander Pajusalu, Monica H. Wojcik, Georgia Vasileiou, Gwenaël Le Guyader, Hege Marie Schnelle, Siren Berland, Evelien Zonneveld‐Huijssoon, Simone Kersten, Aditi Gupta, Patrick R. Blackburn, Marissa S. Ellingson, Matthew J. Ferber, Radhika Dhamija, Eric W. Klee, Meriel McEntagart, Klaske D. Lichtenbelt, Amy Kenney, Samantha A. Schrier Vergano, Rami Abou Jamra, Konrad Platzer, Mary Ella Pierpont, Divya Khattar, Robert J. Hopkin, Richard J. Martin, Marjolijn C.J. Jongmans, Vivian Y. Chang, Julián A. Martínez-Agosto, Outi Kuismin, Mitja Kurki, Olli Pietiläinen, Aarno Palotie, Timothy J. Maarup, Diana Johnson, Katja Venborg Pedersen, Lone Walentin Laulund, Sally Ann Lynch, Moira Blyth, Katrina Prescott, Natalie Canham, Rita Ibitoye, Eva H. Brilstra, Marwan Shinawi, Emily Fassi, Heinrich Sticht, Anne Gregor, Hilde Van Esch, Christiane Zweier

    Vydáno 2019
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  13. 13
    A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome

    A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome Autor Theodore G. Drivas, Dong Li, Divya Nair, Joseph T. Alaimo, Mariëlle Alders, Janine Altmüller, Tahsin Stefan Barakat, E. Martina Bebin, Nicole L. Bertsch, Patrick R. Blackburn, Alyssa Blesson, Arjan Bouman, Knut Brockmann, Perrine Brunelle, Margit Burmeister, Gregory M. Cooper, Jonas Denecke, Anne Dieux‐Coëslier, Holly Dubbs, Alejandro Ferrer, Danna Gal, Lauren Bartik, Lauren Gunderson, Linda Hasadsri, Mahim Jain, Catherine Karimov, Beth Keena, Eric W. Klee, Katja Kloth, Baiba Lāce, Marina Macchiaiolo, Julien L. Marcadier, Jeff M. Milunsky, Melanie P. Napier, Xilma R. Ortiz‐González, Pavel N. Pichurin, Jason Pinner, Zöe Powis, Chitra Prasad, Francesca Clementina Radio, Kristen Rasmussen, Deborah L. Renaud, Eric T. Rush, Carol Saunders, Duygu Selcen, Ann Seman, Deepali N. Shinde, Erica D. Smith, Thomas Smol, Lot Snijders Blok, Joan M. Stoler, Sha Tang, Marco Tartaglia, Michelle L. Thompson, Jiddeke M. van de Kamp, Jingmin Wang, Dagmar Weise, Karin Weiss, Rixa Woitschach, Bernd Wollnik, Huifang Yan, Elaine H. Zackai, Giuseppe Zampino, Philippe M. Campeau, Elizabeth Bhoj

    Vydáno 2020
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  14. 14
    Impact of integrated translational research on clinical exome sequencing

    Impact of integrated translational research on clinical exome sequencing Autor Eric W. Klee, Margot A. Cousin, Filippo Pinto e Vairo, Joel A. Morales‐Rosado, Erica L. Macke, W. Garrett Jenkinson, Alejandro Ferrer, Laura Schultz‐Rogers, Rory J. Olson, Gavin R. Oliver, Ashley N. Sigafoos, Tanya L. Schwab, Michael T. Zimmermann, Raúl Urrutia, Charu Kaiwar, Aditi Gupta, Patrick R. Blackburn, Nicole J. Boczek, Carri A. Prochnow, Rebecca J. Lowy, Lindsay A. Mulvihill, Tammy M. McAllister, Stacy L. Aoudia, Teresa Kruisselbrink, Lauren Gunderson, Jennifer L. Kemppainen, Laura J. Fisher, Jessica M. Tarnowski, Megan M. Hager, Sarah A. Kroc, Nicole L. Bertsch, Katherine Agre, Jessica L. Jackson, Sarah K. Macklin‐Mantia, Marine I. Murphree, Laura Rust, Jolene M. Summer Bolster, Scott A. Beck, Paldeep S. Atwal, Marissa S. Ellingson, Sarah Barnett, Kristen Rasmussen, Carrie A. Lahner, Zhiyv Niu, Linda Hasadsri, Matthew J. Ferber, Cherisse A. Marcou, Karl J. Clark, Pavel N. Pichurin, David R. Deyle, Eva Morava‐Kozicz, Ralitza H. Gavrilova, Radhika Dhamija, Klaas J. Wierenga, Brendan C. Lanpher, Dusica Babovic‐Vuksanovic, Gianrico Farrugia, Lisa A. Schimmenti, A. Keith Stewart, Konstantinos N. Lazaridis

    Vydáno 2020
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  15. 15
    Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability

    Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability Autor Benjamin Cogné, Sophie Ehresmann, Éliane Beauregard‐Lacroix, Justine Rousseau, Thomas Besnard, Thomas X. Garcia, Slavé Petrovski, Shiri Avni, Kirsty McWalter, Patrick R. Blackburn, Stephan Sanders, Kévin Uguen, Jacqueline Harris, Julie S. Cohen, Moira Blyth, Anna Lehman, Jonathan Berg, Mindy Li, Usha Kini, Shelagh Joss, Charlotte von der Lippe, Christopher T. Gordon, Jennifer Humberson, Laurie Robak, Daryl A. Scott, V. Reid Sutton, Cara Skraban, Jennifer J. Johnston, Annapurna Poduri, Magnus Nordenskjöld, Vandana Shashi, Erica H. Gerkes, Ernie M.H.F. Bongers, Christian Gilissen, Yuri A. Zárate, Malin Kvarnung, Kevin P. Lally, Peggy Kulch, Brina Daniels, Andrés Hernández, Nicholas Stong, Julie McGaughran, Kyle Retterer, Kristian Tveten, Jennifer A. Sullivan, Madeleine R. Geisheker, Asbjørg Stray‐Pedersen, Jennifer Tarpinian, Eric W. Klee, Julie C. Sapp, Jacob Zyskind, Øystein L. Holla, Emma Bedoukian, Francesca Filippini, Anne Guimier, Arnaud Picard, Øyvind L. Busk, Jaya Punetha, Rolph Pfundt, Anna Lindstrand, Ann Nordgren, Fayth M. Kalb, Megha Desai, Ashley H. Ebanks, Shalini N. Jhangiani, Tammie Dewan, Zeynep Coban‐Akdemir, Aida Telegrafi, Elaine H. Zackai, Amber Begtrup, Xiaofei Song, Annick Toutain, Ingrid M. Wentzensen, Sylvie Odent, Dominique Bonneau, Xénia Latypova, Wallid Deb, Sylvia Redon, Frédéric Bilan, Marine Legendre, Caitlin Troyer, Kerri Whitlock, Oana Caluseriu, Marine I. Murphree, Pavel N. Pichurin, Katherine Agre, Ralitza H. Gavrilova, Tuula Rinne, Meredith Park, Catherine Shain, Erin L. Heinzen, Rui Xiao, Jeanne Amiel, Stanislas Lyonnet, Bertrand Isidor, Leslie G. Biesecker, Dan Lowenstein, Jennifer E. Posey, Anne‐Sophie Denommé‐Pichon, Claude Férec

    Vydáno 2019
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