Výsledky hledání pro autora :: APM

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Analytical validity of nanopore sequencing for rapid SARS-CoV-2 genome analysis Autor Rowena A. Bull, Thiruni Adikari, James M. Ferguson, Jillian M. Hammond, Igor Stevanovski, Alicia G. Beukers, Zin Naing, Malinna Yeang, Andrey Verich, Hasindu Gamaarachchi, Ki Wook Kim, Fabio Luciani, Sacha Stelzer‐Braid, John‐Sebastian Eden, William D. Rawlinson, Sebastiaan J. van Hal, Ira W. Deveson

Vydáno 2020

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Respiratory viral co-infections among SARS-CoV-2 cases confirmed by virome capture sequencing Autor Ki Wook Kim, Ira W. Deveson, Chi Nam Ignatius Pang, Malinna Yeang, Zin Naing, Thiruni Adikari, Jillian M. Hammond, Igor Stevanovski, Alicia G. Beukers, Andrey Verich, Simon Yin, David McFarlane, Marc R. Wilkins, Sacha Stelzer‐Braid, Rowena A. Bull, Maria E. Craig, Sebastiaan J. van Hal, William D. Rawlinson

Vydáno 2021

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Comprehensive genetic diagnosis of tandem repeat expansion disorders with programmable targeted nanopore sequencing Autor Igor Stevanovski, Sanjog R. Chintalaphani, Hasindu Gamaarachchi, James M. Ferguson, Sandy S. Pineda, Carolin K. Scriba, Michel Tchan, Victor S.C. Fung, Karl Ng, Andrea Cortese, Henry Houlden, Carol Dobson‐Stone, Lauren Fitzpatrick, Glenda M. Halliday, Gianina Ravenscroft, Mark R. Davis, Nigel G. Laing, Avi Fellner, Marina Kennerson, Kishore R. Kumar, Ira W. Deveson

Vydáno 2022

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Targeted Long‐Read Sequencing as a Single Assay Improves the Diagnosis of Spastic‐Ataxia Disorders Autor Laura Ivete Rudaks, Igor Stevanovski, Dennis Yeow, Andre L. M. Reis, Sanjog R. Chintalaphani, Pak Leng Cheong, Hasindu Gamaarachchi, Lisa Worgan, Kate Ahmad, Mike Hayes, Andrew Hannaford, Samuel Kim, Victor S.C. Fung, G. Michael Halmágyi, Andrew J. Martin, David Manser, Michel Tchan, Kishore R. Kumar, Marina Kennerson, Ira W. Deveson, Kishore R. Kumar

Vydáno 2025

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The landscape of genomic structural variation in Indigenous Australians Autor Andre L. M. Reis, Melissa Rapadas, Jillian M. Hammond, Hasindu Gamaarachchi, Igor Stevanovski, Meutia Ayuputeri Kumaheri, Sanjog R. Chintalaphani, Duminda S. B. Dissanayake, Owen M. Siggs, Alex W. Hewitt, Bastien Llamas, Alex Brown, Gareth Baynam, Graham J. Mann, Brendan J. McMorran, Simon Easteal, Azure Hermes, Misty R. Jenkins, Glen J. Pearson, Yvette Roe, Janine Mohamed, Benjamin J. Murray, Lyndon Ormond-Parker, Erica Kneipp, K. Nugent, Graham J. Mann, Hardip R. Patel, Ira W. Deveson

Vydáno 2023

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Evaluating the analytical validity of circulating tumor DNA sequencing assays for precision oncology Autor Ira W. Deveson, Binsheng Gong, Kevin Lai, Jennifer S. LoCoco, Todd Richmond, Jeoffrey Schageman, Zhihong Zhang, Natalia Novoradovskaya, James C. Willey, Wendell Jones, Rebecca Kusko, Guangchun Chen, Bindu Swapna Madala, James Blackburn, Igor Stevanovski, Ambica Bhandari, Devin Close, Jeffrey Conroy, Michael Hubank, Narasimha Marella, Piotr A. Mieczkowski, Fujun Qiu, Robert Sebra, Daniel Stetson, Lihyun Sun, Philippe Szankasi, Haowen Tan, Lin‐Ya Tang, Hanane Arib, Hunter Best, Blake Burgher, Pierre R. Bushel, Fergal Casey, Simon Cawley, Chia-Jung Chang, Jonathan Choi, Jorge M. Dinis, Daniel Duncan, Agda Karina Eterovic, Liang Feng, Abhisek Ghosal, Kristina Giorda, Sean T. Glenn, Scott Happe, Nathan Haseley, Kyle Horvath, Li-Yuan Hung, Mirna Jarosz, Garima Kushwaha, Dan Li, Quan‐Zhen Li, Zhiguang Li, Liang-Chun Liu, Zhichao Liu, Marie‐Aline Charles, Christopher E. Mason, Dalila B. Megherbi, Tom Morrison, Carlos Pabón-Peña, Mehdi Pirooznia, Paula Proszek, Amelia Raymond, Paul M. Rindler, Rebecca Ringler, Andreas Scherer, Rita Shaknovich, Tieliu Shi, Melissa Smith, Ping Song, Maya Strahl, Venkat J. Thodima, Nikola Tom, Suman Verma, Jiashi Wang, Leihong Wu, Wenzhong Xiao, Chang Xu, Mary Qu Yang, Guangliang Zhang, Sa Zhang, Yilin Zhang, Leming Shi, Weida Tong, Donald J. Johann, Tim R. Mercer, Joshua Xu

Vydáno 2021

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A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry Autor Andrea Cortese, Sarah J. Beecroft, Stefano Facchini, Riccardo Currò, Macarena Cabrera‐Serrano, Igor Stevanovski, Sanjog R. Chintalaphani, Hasindu Gamaarachchi, Ben Weisburd, Chiara Folland, Gavin Monahan, Carolin K. Scriba, Lein Dofash, Mridul Johari, Bianca R. Grosz, Melina Ellis, Liam G. Fearnley, Rick M. Tankard, Justin Read, Ashirwad Merve, Natalia Dominik, Elisa Vegezzi, Ricardo Parolin Schnekenberg, Gorka Fernández‐Eulate, Marion Masingue, Diane Giovannini, Martin B. Delatycki, Elsdon Storey, M.D. Gardner, David J. Amor, Garth A. Nicholson, Steve Vucic, Robert D. Henderson, Thomas Robertson, Jason Dyke, Vicki Fabian, Frank Mastaglia, Mark R. Davis, Marina Kennerson, Piraye Oflazer, Nazlı Başak, Hülya Kayserili, Gözde Yeşil, Edoardo Malfatti, James B Lilleker, Matthew Wicklund, Robert D. S. Pitceathly, Stefen Brady, Bernard Brais, David Pellerin, Stephan Züchner, Matt C. Danzi, Marina Grandis, Giacomo P. Comi, Stefania Corti, Elena Abati, Antonio Toscano, Arianna Manini, Arianna Ghia, Cristina Tassorelli, Ilaria Quartesan, Roberto Simone, Alexander M. Rossor, Mary M. Reilly, Liam Carroll, Volker Straub, Bjarne Udd, Zhiyong Chen, Gisèle Bonne, Rosaline C. M. Quinlivan, Simon Hammans, Arianna Tucci, Melanie Bahlo, Catriona McLean, Nigel G. Laing, Tanya Stojkovic, Henry Houlden, Michael G. Hanna, Ira W. Deveson, Paul J. Lockhart, Phillipa J. Lamont, Michael Fahey, Enrico Bugiardini, Gianina Ravenscroft

Vydáno 2024

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Normal and pathogenic variation of <i>RFC1</i> repeat expansions: implications for clinical diagnosis Autor Natalia Dominik, Stefania Magri, Riccardo Currò, Elena Abati, Stefano Facchini, Marinella Corbetta, Hannah Macpherson, Daniela Di Bella, Elisa Sarto, Igor Stevanovski, Sanjog R. Chintalaphani, Fulya Akçimen, Arianna Manini, Elisa Vegezzi, Ilaria Quartesan, Kylie-Ann Montgomery, Valentina Pirota, Emmanuele Crespan, Cecilia Perini, Glenda Paola Grupelli, Pedro José Tomaselli, Wilson Marques, John C. Ambrose, Prabhu Arumugam, Emma L. Baple, Marta Bleda, F. Boardman-Pretty, J. M. Boissiere, C. R. Boustred, Helen Brittain, Mark J. Caulfield, Gary C.W. Chan, C.E.H. Craig, Louise C. Daugherty, Anna de Burca, A. Devereau, Greg Elgar, Rebecca E. Foulger, Tom Fowler, Pedro Furió‐Tarí, Emil K. Gustavsson, Janna M. Hackett, Dina Halai, Angela Hamblin, S Henderson, J. Holman, Tim Hubbard, Kristina Ibáñez, Robert W. Jackson, J. Louise Jones, Dalia Kasperavičiūtė, Melis Kayikci, L. Lahnstein, Keith A. Lawson, S. E. A. Leigh, I. U. S. Leong, Fernando López, F. Maleady-Crowe, James Mason, Ellen M. McDonagh, Loukas Moutsianas, Michael Mueller, Nirupa Murugaesu, Anna C. Need, Chris A. Odhams, Christine Patch, D. Perez-Gil, Dimitris Polychronopoulos, J. Pullinger, T. Rahim, Augusto Rendon, Pablo Riesgo-Ferreiro, Thomas R. Rogers, Mina Ryten, Bianca Rugginini, K Savage, K. Sawant, Richard H. Scott, Afshan Siddiq, A. Sieghart, Damian Smedley, Katherine R. Smith, Alona Sosinsky, W. Spooner, Hanna E. Stevens, Ashley Stuckey, Rukhsana Sultana, Ellen Thomas, Simon R. Thompson, Carolyn Tregidgo, Arianna Tucci, Edward E. Walsh, Scott Watters, M. J. Welland, Eleanor Williams, Kate Witkowska, Scott Wood, Magdalena Zarowiecki, Joseph Shaw, James M. Polke

Vydáno 2023

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