Zobrazeno 1 - 10
of 76
pro vyhledávání: '"Michael F, Buckley"'
Autor:
Margaux Serey-Gaut, Marisol Cortes, Periklis Makrythanasis, Mohnish Suri, Alexander M.R. Taylor, Jennifer A. Sullivan, Ayat N. Asleh, Jaba Mitra, Mohamad A. Dar, Amy McNamara, Vandana Shashi, Sarah Dugan, Xiaofei Song, Jill A. Rosenfeld, Christelle Cabrol, Justyna Iwaszkiewicz, Vincent Zoete, Davut Pehlivan, Zeynep Coban Akdemir, Elizabeth R. Roeder, Rebecca Okashah Littlejohn, Harpreet K. Dibra, Philip J. Byrd, Grant S. Stewart, Bilgen B. Geckinli, Jennifer Posey, Rachel Westman, Chelsy Jungbluth, Jacqueline Eason, Rani Sachdev, Carey-Anne Evans, Gabrielle Lemire, Grace E. VanNoy, Anne O’Donnell-Luria, Frédéric Tran Mau-Them, Aurélien Juven, Juliette Piard, Cheng Yee Nixon, Ying Zhu, Taekjip Ha, Michael F. Buckley, Christel Thauvin, George K. Essien Umanah, Lionel Van Maldergem, James R. Lupski, Tony Roscioli, Valina L. Dawson, Ted M. Dawson, Stylianos E. Antonarakis
Publikováno v:
The American Journal of Human Genetics. 110:499-515
Autor:
Amanda Thomas‐Wilson, John P. Schacht, David Chitayat, Susan Blaser, Francis Jeshira Reynoso Santos, Kimberly Glaser, Alesky Caffo, Ingrid M. Wentzensen, Lindsay B. Henderson, Futao Zhang, Ying Zhu, Ellen Di Corleto, Fabricio da Silva Costa, Rebecca Vink, Ebba Alkhunaizi, Laura Russell, Michael F. Buckley, Tony Roscioli, Elaine Maria Pereira, Mythily Ganapathi
Publikováno v:
American Journal of Medical Genetics Part A.
Autor:
Alanna Strong, Soumya Rao, Sandra von Hardenberg, Dong Li, Liza L. Cox, Paul C. Lee, Li Q. Zhang, Waheed Awotoye, Tamir Diamond, Jessica Gold, Catherine Gooch, Lord Jephthah Joojo Gowans, Hakon Hakonarson, Anne Hing, Kathleen Loomes, Nicole Martin, Mary L. Marazita, Tarja Mononen, David Piccoli, Rolph Pfundt, Salmo Raskin, Stephen W. Scherer, Nara Sobriera, Courtney Vaccaro, Xiang Wang, Deborah Watson, Rosanna Weksberg, Elizabeth Bhoj, Jeffrey C. Murray, Andrew C. Lidral, Azeez Butali, Michael F. Buckley, Tony Roscioli, David A. Koolen, Laurie H. Seaver, Cynthia A. Prows, Rolf W. Stottmann, Timothy C. Cox
Publikováno v:
American Journal of Medical Genetics. Part A, 191, 1227-1239
American Journal of Medical Genetics. Part A, 191, 5, pp. 1227-1239
American Journal of Medical Genetics. Part A, 191, 5, pp. 1227-1239
Contains fulltext : 291896.pdf (Publisher’s version ) (Closed access) AMOTL1 encodes angiomotin-like protein 1, an actin-binding protein that regulates cell polarity, adhesion, and migration. The role of AMOTL1 in human disease is equivocal. We rep
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::23284fd34032c2478d215b0eced1113d
http://hdl.handle.net/2066/291896
http://hdl.handle.net/2066/291896
Autor:
Kerith-Rae Dias, Colleen M. Carlston, Laura E.R. Blok, Lachlan De Hayr, Urwah Nawaz, Carey-Anne Evans, Pinar Bayrak-Toydemir, Stephanie Htun, Ying Zhu, Alan Ma, Sally Ann Lynch, Catherine Moorwood, Karen Stals, Sian Ellard, Matthew N. Bainbridge, Jennifer Friedman, John G. Pappas, Rachel Rabin, Catherine B. Nowak, Jessica Douglas, Theodore E. Wilson, Maria J. Guillen Sacoto, Sureni V. Mullegama, Timothy Blake Palculict, Edwin P. Kirk, Jason R. Pinner, Matthew Edwards, Francesca Montanari, Claudio Graziano, Tommaso Pippucci, Bri Dingmann, Ian Glass, Heather C. Mefford, Takeyoshi Shimoji, Toshimitsu Suzuki, Kazuhiro Yamakawa, Haley Streff, Christian P. Schaaf, Anne M. Slavotinek, Irina Voineagu, John C. Carey, Michael F. Buckley, Annette Schenck, Robert J. Harvey, Tony Roscioli
Publikováno v:
Genetics in Medicine, 24, 9, pp. 1952-1966
Genetics in Medicine, 24, 1952-1966
Genetics in Medicine, 24, 1952-1966
ZMYND8 encodes a multidomain protein that serves as a central interactive hub for coordinating critical roles in transcription regulation, chromatin remodeling, regulation of super-enhancers, DNA damage response and tumor suppression. We delineate a
Autor:
Yukiko Kuroda, Aiko Iwata-Otsubo, Kerith-Rae Dias, Suzanna E.L. Temple, Koji Nagao, Lachlan De Hayr, Ying Zhu, Shin-Ya Isobe, Gohei Nishibuchi, Sarah K. Fiordaliso, Yuki Fujita, Alyssa L. Rippert, Samuel W. Baker, Marco L. Leung, Daniel C. Koboldt, Adele Harman, Beth A. Keena, Izumi Kazama, Gopinath Musuwadi Subramanian, Kandamurugu Manickam, Betsy Schmalz, Maeson Latsko, Elaine H. Zackai, Matt Edwards, Carey-Anne Evans, Matthew C. Dulik, Michael F. Buckley, Toshihide Yamashita, W. Timothy O'Brien, Robert J. Harvey, Chikashi Obuse, Tony Roscioli, Kosuke Izumi
Publikováno v:
Genetics in Medicine. :100861
Autor:
Mohammad Al-shinnag, Caitlin Forwood, Rebecca Walsh, Sarah Josephi-Taylor, Alyssa Wilson, Futao Zhang, Ying Zhu, Ali Moghimi, Michael F. Buckley, Tony Roscioli
Publikováno v:
Pathology. 55:S41
Autor:
Adam M. Bournazos, Lisa G. Riley, Shobhana Bommireddipalli, Lesley Ades, Lauren S. Akesson, Mohammad Al-Shinnag, Stephen I. Alexander, Alison D. Archibald, Shanti Balasubramaniam, Yemima Berman, Victoria Beshay, Kirsten Boggs, Jasmina Bojadzieva, Natasha J. Brown, Samantha J. Bryen, Michael F. Buckley, Belinda Chong, Mark R. Davis, Ruebena Dawes, Martin Delatycki, Liz Donaldson, Lilian Downie, Caitlin Edwards, Matthew Edwards, Amanda Engel, Lisa J. Ewans, Fathimath Faiz, Andrew Fennell, Michael Field, Mary-Louise Freckmann, Lyndon Gallacher, Russell Gear, Himanshu Goel, Shuxiang Goh, Linda Goodwin, Bernadette Hanna, James Harraway, Megan Higgins, Gladys Ho, Bruce K. Hopper, Ari E. Horton, Matthew F. Hunter, Aamira J. Huq, Sarah Josephi-Taylor, Himanshu Joshi, Edwin Kirk, Emma Krzesinski, Kishore R. Kumar, Frances Lemckert, Richard J. Leventer, Suzanna E. Lindsey-Temple, Sebastian Lunke, Alan Ma, Steven Macaskill, Amali Mallawaarachchi, Melanie Marty, Justine E. Marum, Hugh J. McCarthy, Manoj P. Menezes, Alison McLean, Di Milnes, Shekeeb Mohammad, David Mowat, Aram Niaz, Elizabeth E. Palmer, Chirag Patel, Shilpan G. Patel, Dean Phelan, Jason R. Pinner, Sulekha Rajagopalan, Matthew Regan, Jonathan Rodgers, Miriam Rodrigues, Richard H. Roxburgh, Rani Sachdev, Tony Roscioli, Ruvishani Samarasekera, Sarah A. Sandaradura, Elena Savva, Tim Schindler, Margit Shah, Ingrid B. Sinnerbrink, Janine M. Smith, Richard J. Smith, Amanda Springer, Zornitza Stark, Samuel P. Strom, Carolyn M. Sue, Kenneth Tan, Tiong Y. Tan, Esther Tantsis, Michel C. Tchan, Bryony A. Thompson, Alison H. Trainer, Karin van Spaendonck-Zwarts, Rebecca Walsh, Linda Warwick, Stephanie White, Susan M. White, Mark G. Williams, Meredith J. Wilson, Wui Kwan Wong, Dale C. Wright, Patrick Yap, Alison Yeung, Helen Young, Kristi J. Jones, Bruce Bennetts, Sandra T. Cooper, Ghusoon Abdulrasool, Ghamdan Al Eryani, Peer Arts, Richard Bagnall, Naomi L. Baker, Christopher Barnett, Sarah Beecroft, Marina Berbic, Michael Black, Jim Blackburn, Piers Blombery, Susan Branford, Jimmy Breen, Leslie Burnett, Daffodil Canson, Pak Cheong, Edward Chew, John Christodoulou, Seo-Kyung Chung, Mike Clark, Corrina Cliffe, Melissa Cole, Felicity Collins, Alison Compton, Antony Cooper, Mark Corbett, Mark Cowley, Tracy Dudding, Stefanie Eggers, Eduardo Eyras, Miriam Fanjul Fernandez, Andrew Fellowes, Ron Fleischer, Chiara Folland, Lucy Fox, Clara Gaff, Melanie Galea, Roula Ghaoui, Ilias Gornanitis, Thuong Ha, Rippei Hayashi, Ian Hayes, Alex Henderson, Luke Hesson, Erin Heyer, Michael Hildebrand, Michael Hipwell, Cass Hoskins, Matilda Jackson, Paul James, Justin Jong-Leong Wong, Karin Kassahn, Peter Kaub, Lucy Kevin, Smitha Kumble, Sarah Kummerfeld, Nigel Laing, Chiyan Lau, Eric Lee, Sarah Leighton, Ben Lundie, Chelsea Mayoh, Julie McGaughran, Mary McPhillips, Cliff Meldrum, Edwina Middleton, Kym Mina, Amy Nisselle, Emily Oates, Alicia Oshlack, Gayathri Parasivam, Michael Parsons, Michael Quinn, John Rasko, Gina Ravenscroft, Anja Ravine, Krista Recsei, Jacqueline Rehn, Stephen Robertson, Anne Ronan, Georgina Ryland, Simon Sadedin, Andreas Schreiber, Hamish Scott, Rodney Scott, Christopher Semsarian, Cas Simons, Emma Singer, Renee Smyth, Amanda Spurdle, Patricia Sullivan, Samantha Sundercombe, David Thorburn, John Toubia, Ronald Trent, Emma Tudini, Irina Voneague, Leigh Waddell, Logan Walker, Mathew Wallis, Nick Warnock, Robert Weatheritt, Deborah White, Ingrid Winship, Lisa Worgan, Kathy Wu, Andrew Ziolowski
usc Refereed/Peer-reviewed Purpose: Genetic variants causing aberrant premessenger RNA splicing are increasingly being recognized as causal variants in genetic disorders. In this study, we devise standardized practices for polymerase chain reaction (
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e89d7bfd7ca0514671d5a9885197b140
https://hdl.handle.net/11541.2/34507
https://hdl.handle.net/11541.2/34507
Autor:
Lisa J. Ewans, Andre E. Minoche, Deborah Schofield, Rupendra Shrestha, Clare Puttick, Ying Zhu, Alexander Drew, Velimir Gayevskiy, George Elakis, Corrina Walsh, Lesley C. Adès, Alison Colley, Carolyn Ellaway, Carey-Anne Evans, Mary-Louise Freckmann, Linda Goodwin, Anna Hackett, Benjamin Kamien, Edwin P. Kirk, Michelle Lipke, David Mowat, Elizabeth Palmer, Sulekha Rajagopalan, Anne Ronan, Rani Sachdev, William Stevenson, Anne Turner, Meredith Wilson, Lisa Worgan, Marie-Christine Morel-Kopp, Michael Field, Michael F. Buckley, Mark J. Cowley, Marcel E. Dinger, Tony Roscioli
Publikováno v:
European journal of human genetics : EJHG. 30(10)
Whole genome sequencing (WGS) improves Mendelian disorder diagnosis over whole exome sequencing (WES); however, additional diagnostic yields and costs remain undefined. We investigated differences between diagnostic and cost outcomes of WGS and WES i
Autor:
Emma Wakeling, Quan Li, Laurence E. Walsh, Maria J. Guillen Sacoto, Julie Vogt, Jeff L. Waugh, James R. Lupski, Elizabeth E. Palmer, Alan F. Rope, Robert Kleyner, Amalia Mallawaarachchi, Sebastian Lunke, Jennifer E. Posey, Pankaj B. Agrawal, Sebastien Moutton, Laurence Faivre, Zornitza Stark, Prosper Lukusa, Emily Fassi, Gareth Baynam, Gabriela Soares, Antonie D. Kline, Sonja A. de Munnik, Sarah A. Sandaradura, Chunhua Weng, Lucinda Murray, Lisa Ewans, Ganka Douglas, Eyby Leon, Shehla Mohammed, Marcia C. Willing, Elaine Marchi, Nora Alexander, Paul R. Mark, Joris Vermeesch, Lauren Dreyer, Aimé Lumaka, Koenraad Devriendt, Gholson J. Lyon, Helena Ahlfors, Katelyn Payne, Piatek G. Stefan, Jullianne Diaz, Lesley C. Adès, Simona Capponi, Jean-Baptiste Rivière, Michael F. Buckley, Amber Begtrup, H. T. Marc Timmers, Tony Roscioli, Mengge Zhao, Ana R. Gonçalves, Hanyin Cheng, Lisa Worgan, Kai Wang, Jorge Oliveira
Publikováno v:
Hum Mutat
We recently described a new neurodevelopmental syndrome (TAF1/MRXS33 intellectual disability syndrome) (MIM# 300966) caused by pathogenic variants involving the X-linked gene TAF1, which participates in RNA polymerase II transcription. The initial st
Autor:
Christian Staufner, Dominic Lenz, Michael Huber, Ulrich Baumann, Lennart Opitz, Neveen A. Soliman, Raif S. Geha, Hundeep Kaur, Christian Klemann, Verena Klämbt, Sebastian Hiller, Matias Wagner, Jana Pachlopnik Schmid, Janet Chou, Andreas Klein-Franke, Danil Koovely, Chris Fraser, Karsten Häffner, Tommaso Marchetti, Michael T. Gabbett, Heike Olbrich, Christina Kessler, Matthias Griese, Tayfun Güngör, Michael F. Buckley, Veronika Haunerdinger, Craig D. Platt, George Elakis, Sabrina Weeks, Martin Schwemmle, Stefano Vavassori, Friedhelm Hildebrandt, Seraina Prader, Guido F. Laube, Megan Elkins, Laura Faletti, Abduarahman Almutairi, Patrick Frosk, Charlotte Gimpel, Luise A. Schuch, Maria Elena Maccari, Xianfei Gao, Pascal Joset, Stephan Ehl, Maria Forstner, Raimund Kottke, Tamar S. Rubin, Tony Roscioli, Simone Reu-Hofer, Raquel Planas, Thomas Kaiser, Achim Weber, Steffen Hartleif, Sandra von Hardenberg, Ying Zhu, Ekkehard Sturm, Barbara Brotschi, Julia Hoefele, Solange Moll, Heymut Omran
Publikováno v:
J Allergy Clin Immunol
BACKGROUND Recognition of viral nucleic acids is one of the primary triggers for a type I interferon-mediated antiviral immune response. Inborn errors of type I interferon immunity can be associated with increased inflammation and/or increased suscep
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d09fe2f0c0593526f54e768cea0df692
https://edoc.unibas.ch/86552/
https://edoc.unibas.ch/86552/