検索結果 - Simon Sadedin

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  1. 1
    De novo mutations in <i>HNRNPU</i> result in a neurodevelopmental syndrome

    De novo mutations in <i>HNRNPU</i> result in a neurodevelopmental syndrome 著者: T. Michael Yates, Pradeep Vasudevan, Kate Chandler, Deirdre E. Donnelly, Zornitza Stark, Simon Sadedin, Josh Willoughby, Meena Balasubramanian

    出版事項 2017
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  2. 2
    TP63‐truncating variants cause isolated premature ovarian insufficiency

    TP63‐truncating variants cause isolated premature ovarian insufficiency 著者: Elena J. Tucker, Sylvie Jaillard, Sonia Grover, Jocelyn den Bergen, Gorjana Robevska, Katrina M. Bell, Simon Sadedin, Chloe Hanna, Jérôme Dulon, Philippe Touraine, Andrew Sinclair

    出版事項 2019
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  3. 3
    STRetch: detecting and discovering pathogenic short tandem repeat expansions

    STRetch: detecting and discovering pathogenic short tandem repeat expansions 著者: Harriet Dashnow, Monkol Lek, Belinda Phipson, Andreas Halman, Simon Sadedin, Andrew Lonsdale, Mark R. Davis, Phillipa J. Lamont, Joshua S. Clayton, Nigel G. Laing, Daniel G. MacArthur, Alicia Oshlack

    出版事項 2018
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  4. 4
    Cpipe: a shared variant detection pipeline designed for diagnostic settings

    Cpipe: a shared variant detection pipeline designed for diagnostic settings 著者: Simon Sadedin, Harriet Dashnow, Paul A. James, Melanie Bahlo, Denis C. Bauer, Andrew Lonie, Sebastian Lunke, Ivan Macciocca, Jason P. Ross, Kirby Siemering, Zornitza Stark, Susan M. White, Graham R. Taylor, Clara Gaff, Alicia Oshlack, Natalie Thorne

    出版事項 2015
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  5. 5
    A head-to-head evaluation of the diagnostic efficacy and costs of trio versus singleton exome sequencing analysis

    A head-to-head evaluation of the diagnostic efficacy and costs of trio versus singleton exome sequencing analysis 著者: Tiong Yang Tan, Sebastian Lunke, Belinda Chong, Dean Phelan, Miriam Fanjul‐Fernández, Justine E. Marum, Vanessa Siva Kumar, Zornitza Stark, Alison Yeung, Natasha J. Brown, Chloe Stutterd, Martin B. Delatycki, Simon Sadedin, Melissa Martyn, Ilias Goranitis, Natalie Thorne, Clara Gaff, Susan M. White

    出版事項 2019
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  6. 6
    Bi-allelic ADARB1 Variants Associated with Microcephaly, Intellectual Disability, and Seizures

    Bi-allelic ADARB1 Variants Associated with Microcephaly, Intellectual Disability, and Seizures 著者: Tiong Yang Tan, Jiří Sedmík, Mark P. Fitzgerald, Rivka Sukenik‐Halevy, Liam P. Keegan, Ingo Helbig, Lina Basel‐Salmon, Lior Cohen, Rachel Straussberg, Wendy K. Chung, Mayada Helal, Reza Maroofian, Henry Houlden, Jane Juusola, Simon Sadedin, Lynn Pais, Katherine B. Howell, Susan M. White, John Christodoulou, Mary A. O’Connell

    出版事項 2020
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  7. 7
    Diagnostic and cost utility of whole exome sequencing in peripheral neuropathy

    Diagnostic and cost utility of whole exome sequencing in peripheral neuropathy 著者: Maie Walsh, Katrina M. Bell, Belinda Chong, Emma Creed, Gemma R. Brett, Kate Pope, Natalie Thorne, Simon Sadedin, Peter Georgeson, Dean Phelan, Timothy Day, Jessica Taylor, Adrienne Sexton, Paul J. Lockhart, Lynette Kiers, Michael Fahey, Ivan Macciocca, Clara Gaff, Alicia Oshlack, Eppie M. Yiu, Paul A. James, Zornitza Stark, Monique M. Ryan

    出版事項 2017
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  8. 8
    Prospective cohort study of genomic newborn screening: BabyScreen+ pilot study protocol

    Prospective cohort study of genomic newborn screening: BabyScreen+ pilot study protocol 著者: Sebastian Lunke, Sophie E. Bouffler, Lilian Downie, Jade Caruana, David J. Amor, Alison D. Archibald, Yvonne Bombard, John Christodoulou, Marc Clausen, Paul De Fazio, Ronda F. Greaves, Sebastian Hollizeck, Anaita Kanga‐Parabia, Nitzan Lang, Fiona Lynch, Riccarda Peters, Simon Sadedin, Erin Tutty, Stefanie Eggers, Crystle Lee, Meaghan Wall, Alison Yeung, Clara Gaff, Christopher Gyngell, Danya F. Vears, Stephanie Best, Ilias Goranitis, Zornitza Stark

    出版事項 2024
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  9. 9
    Diagnostic Impact and Cost-effectiveness of Whole-Exome Sequencing for Ambulant Children With Suspected Monogenic Conditions

    Diagnostic Impact and Cost-effectiveness of Whole-Exome Sequencing for Ambulant Children With Suspected Monogenic Conditions 著者: Tiong Yang Tan, Oliver James Dillon, Zornitza Stark, Deborah Schofield, Khurshid Alam, Rupendra Shrestha, Belinda Chong, Dean Phelan, Gemma R. Brett, Emma Creed, Anna Jarmolowicz, Patrick Yap, Maie Walsh, Lilian Downie, David J. Amor, Ravi Savarirayan, George McGillivray, Alison Yeung, Heidi Peters, Susan J. Robertson, Aaron Robinson, Ivan Macciocca, Simon Sadedin, Katrina M. Bell, Alicia Oshlack, Peter Georgeson, Natalie Thorne, Clara Gaff, Susan M. White

    出版事項 2017
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  10. 10
    A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders

    A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders 著者: Zornitza Stark, Tiong Yang Tan, Belinda Chong, Gemma R. Brett, Patrick Yap, Maie Walsh, Alison Yeung, Heidi Peters, Dylan Mordaunt, Shannon Cowie, David J. Amor, Ravi Savarirayan, George McGillivray, Lilian Downie, Paul G. Ekert, Christiane Theda, Paul A. James, Joy Yaplito‐Lee, Monique M. Ryan, Richard J. Leventer, Emma Creed, Ivan Macciocca, Katrina M. Bell, Alicia Oshlack, Simon Sadedin, Peter Georgeson, Charlotte Anderson, Natalie Thorne, Clara Gaff, Susan M. White

    出版事項 2016
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  11. 11
    SYT1-associated neurodevelopmental disorder: a case series

    SYT1-associated neurodevelopmental disorder: a case series 著者: Kate Baker, Sarah L. Gordon, Holly Melland, Fabian Bumbak, Daniel J. Scott, Tess J Jiang, David J. Owen, Bradley J. Turner, Stewart Boyd, Mari Rossi, Mohammed Al‐Raqad, Orly Elpeleg, Dawn Peck, Grazia M.S. Mancini, Martina Wilke, Marcella Zollino, Giuseppe Marangi, Heike Weigand, Ingo Borggraefe, Tobias B. Haack, Zornitza Stark, Simon Sadedin, Tiong Yang Tan, Yunyun Jiang, Richard A. Gibbs, Sara Ellingwood, Michelle D. Amaral, Whitley V. Kelley, Manju A. Kurian, Michael A. Cousin, F. Lucy Raymond

    出版事項 2018
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  12. 12
    Integrated multi-omics for rapid rare disease diagnosis on a national scale

    Integrated multi-omics for rapid rare disease diagnosis on a national scale 著者: Sebastian Lunke, Sophie E. Bouffler, Chirag Patel, Sarah A. Sandaradura, Meredith Wilson, Jason Pinner, Matthew F. Hunter, Christopher Barnett, Mathew Wallis, Benjamin Kamien, Tiong Yang Tan, Mary‐Louise Freckmann, Belinda Chong, Dean Phelan, David Francis, Karin S. Kassahn, Thuong Ha, Song Gao, Peer Arts, Matilda R. Jackson, Hamish S. Scott, Stefanie Eggers, Simone M. Rowley, Kirsten Boggs, Ana Rakonjac, Gemma R. Brett, M. De Silva, Amanda Springer, Michelle C. Ward, Kirsty Stallard, Cas Simons, Thomas Conway, Andreas Halman, Nicole J. Van Bergen, Tim Sikora, Liana N. Semcesen, David A. Stroud, Alison G. Compton, David R. Thorburn, Katrina M. Bell, Simon Sadedin, Kathryn N. North, John Christodoulou, Zornitza Stark

    出版事項 2023
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  13. 13
    Fatal Perinatal Mitochondrial Cardiac Failure Caused by Recurrent De Novo Duplications in the ATAD3 Locus

    Fatal Perinatal Mitochondrial Cardiac Failure Caused by Recurrent De Novo Duplications in the ATAD3 Locus 著者: Ann E. Frazier, Alison G. Compton, Yoshihito Kishita, Daniella H. Hock, AnneMarie E. Welch, Sumudu S. C. Amarasekera, Rocío Rius, Luke E. Formosa, Atsuko Imai‐Okazaki, David Francis, Min Wang, Nicole J. Lake, Simone Tregoning, Jafar S. Jabbari, Alexis Lucattini, Kazuhiro R. Nitta, Akira Ohtake, Kei Murayama, David J. Amor, George McGillivray, Flora Y. Wong, Marjo S. van der Knaap, R. Jeroen Vermeulen, Esko Wiltshire, Janice M. Fletcher, Barry Lewis, Gareth Baynam, Carolyn Ellaway, Shanti Balasubramaniam, Kaustuv Bhattacharya, Mary-Louise Freckmann, Susan Arbuckle, Michael Rodriguez, Ryan J. Taft, Simon Sadedin, Mark J. Cowley, André E. Minoche, Sarah E. Calvo, Vamsi K. Mootha, Michael T. Ryan, Yasushi Okazaki, David A. Stroud, Cas Simons, John Christodoulou, David R. Thorburn

    出版事項 2020
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  14. 14
    Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System

    Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System 著者: Sebastian Lunke, Stefanie Eggers, Meredith Wilson, Chirag Patel, Christopher Barnett, Jason Pinner, Sarah A. Sandaradura, Michael F. Buckley, Emma Krzesinski, M. De Silva, Gemma R. Brett, Kirsten Boggs, David Mowat, Edwin P. Kirk, Lesley C. Adès, Lauren Akesson, David J. Amor, Samantha Ayres, Anne Baxendale, Sarah Borrie, Alessandra Bray, Natasha J. Brown, Cheng Yee Chan, Belinda Chong, Corrina Cliffe, Martin B. Delatycki, Matthew Edwards, George Elakis, Michael Fahey, Andrew Fennell, Lindsay Fowles, Lyndon Gallacher, Megan Higgins, Katherine B. Howell, L. Hunt, Matthew F. Hunter, Kristi Jones, Sarah King, Smitha Kumble, Sarah Lang, Maelle Le Moing, Alan Ma, Dean Phelan, Michael C. Quinn, A. Mark Richards, Christopher M. Richmond, Jessica R. Riseley, Jonathan Rodgers, Rani Sachdev, Simon Sadedin, Luregn J. Schlapbach, Janine Smith, Amanda Springer, Natalie B. Tan, Tiong Yang Tan, Suzanna L. Temple, Christiane Theda, Anand Vasudevan, Susan M. White, Alison Yeung, Ying Zhu, Melissa Martyn, Stephanie Best, Tony Roscioli, John Christodoulou, Zornitza Stark

    出版事項 2020
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  15. 15
    Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort

    Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort 著者: Stefanie Eggers, Simon Sadedin, Jocelyn A. van den Bergen, Gorjana Robevska, Thomas Ohnesorg, Jacqueline Hewitt, Luke S. Lambeth, Aurore Bouty, Ingrid Knarston, Tiong Yang Tan, Fergus Cameron, George A. Werther, John Hutson, Michele A. O’Connell, Sonia Grover, Yves Héloury, Margaret Zacharin, Philip Bergman, Chris Kimber, Justin Brown, Nathalie Webb, Matthew F. Hunter, Shubha Srinivasan, Angela Titmuss, Charles F. Verge, David Mowat, Grahame Smith, Janine Smith, Lisa Ewans, Carolyn Shalhoub, Patricia Crock, Chris Cowell, Gary M. Leong, Makato Ono, Antony Lafferty, Tony Huynh, Uma Visser, Catherine S. Choong, F. Ellis McKenzie, Nicholas Pachter, Elizabeth M. Thompson, Jennifer Couper, Anne Baxendale, Jozef Gécz, Benjamin J. Wheeler, Craig Jefferies, Karen E. MacKenzie, Paul L. Hofman, Philippa Carter, Richard King, Csilla Krausz, Conny M.A. van Ravenswaaij‐Arts, Leendert H. J. Looijenga, S L S Drop, Stefan Riedl, Martine Cools, Angelika J. Dawson, Achmad Zulfa Juniarto, Vaman Khadilkar, Anuradha Khadilkar, Vijayalakshmi Bhatia, Vũ Chí Dũng, Irum Atta, Jamal Raza, Nguyen Thi Diem, Tran Kiem Hao, Vincent R. Harley, Peter Koopman, Garry L. Warne, Sultana MH Faradz, Alicia Oshlack, Katie L. Ayers, Andrew Sinclair

    出版事項 2016
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  16. 16
    Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7

    Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7 著者: Laura Castilla‐Vallmanya, Kaja Kristine Selmer, Clémantine Dimartino, Raquel Rabionet, Bernardo Blanco‐Sánchez, Sandra Yang, Margot R.F. Reijnders, A.J. van Essen, Myriam Oufadem, Magnus Dehli Vigeland, Barbro Stadheim, Gunnar Houge, Helen Cox, Helen Kingston, Jill Clayton‐Smith, Jeffrey W. Innis, Maria Iascone, Anna Cereda, Sara Gabbiadini, Wendy K. Chung, Victoria R. Sanders, Joel Charrow, Emily Bryant, J Gordon Millichap, Antonio Vitobello, Christel Thauvin, Frédéric Tran Mau‐Them, Laurence Faivre, Gaëtan Lesca, Audrey Labalme, Christelle Rougeot, Nicolas Chatron, Damien Sanlaville, Katherine Christensen, Amelia Kirby, Raymond Lewandowski, Rachel Gannaway, Maha Abdelgaber A. Aly, Anna Lehman, Lorne A. Clarke, Luitgard Graul‐Neumann, Christiane Zweier, Davor Lessel, Bernarda Lozić, Ingvild Aukrust, Ryan Peretz, Robert F. Stratton, Thomas Smol, Anne Dieux‐Coëslier, Joanna Góes Castro Meira, Elizabeth Wohler, Nara Sobreira, Erin Beaver, Jennifer Heeley, Lauren C. Briere, Frances A. High, David A. Sweetser, Melissa Walker, Catherine E. Keegan, Parul Jayakar, Marwan Shinawi, Wilhelmina S. Kerstjens‐Frederikse, Dawn Earl, Victoria Mok Siu, Emma Reesor, Tony Yao, Robert A. Hegele, Olena M. Vaske, Shannon Rego, Kevin A. Shapiro, Brian Wong, Michael J. Gambello, Marie McDonald, Danielle Karlowicz, Roberto Colombo, Alessandro Serretti, Lynn Pais, Anne O’Donnell‐Luria, Alison Wray, Simon Sadedin, Belinda Chong, Tiong Yang Tan, John Christodoulou, Susan M. White, Anne Slavotinek, Deborah Barbouth, Dayna Morel Swols, Mélanie Parisot, Christine Bôle‐Feysot, Patrick Nitschké, Véronique Pingault, Arnold Munnich, Megan T. Cho, Valérie Cormier‐Daire, Susana Balcells, Stanislas Lyonnet, Daniel Grinberg, Jeanne Amiel, Roser Urreizti, Christopher T. Gordon

    出版事項 2020
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  17. 17
    Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome

    Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome 著者: Sarah Stephenson, Gregory Costain, Laura E.R. Blok, Michael Silk, Thanh Nguyen, Xiaomin Dong, Dana E. Alhuzaimi, James J. Dowling, Susan Walker, Kimberly Amburgey, Robin Z. Hayeems, Lance H. Rodan, Marc A. Schwartz, Jonathan Picker, Sally Ann Lynch, Aditi Gupta, Kristen Rasmussen, Lisa A. Schimmenti, Eric W. Klee, Zhiyv Niu, Katherine Agre, Ilana Chilton, Wendy K. Chung, Anya Revah‐Politi, Ping Yee Billie Au, Christopher Griffith, Melissa Racobaldo, Annick Raas‐Rothschild, Bruria Ben Zeev, Ortal Barel, Sébastien Moutton, Fanny Morice‐Picard, Virginie Carmignac, Jenny Cornaton, Nathalie Marle, Orrin Devinsky, Chandler L. Stimach, Stephanie Burns Wechsler, Bryan E. Hainline, Katie Sapp, Marjolaine Willems, Ange‐Line Bruel, Kerith‐Rae Dias, Carey‐Anne Evans, Tony Roscioli, Rani Sachdev, Suzanna E.L. Temple, Ying Zhu, Joshua Baker, Ingrid E. Scheffer, Fiona Gardiner, Amy L. Schneider, Alison M. Muir, Heather C Mefford, Amy Crunk, Elizabeth M. Heise, Francisca Millan, Kristin G. Monaghan, Richard Person, Lindsay Rhodes, Sarah Richards, Ingrid M. Wentzensen, Benjamin Cogné, Bertrand Isidor, Mathilde Nizon, Marie Vincent, Thomas Besnard, Amélie Piton, Carlo Marcelis, Kohji Kato, Norihisa Koyama, Tomoo Ogi, Elaine Goh, Christopher M. Richmond, David J. Amor, Jessica O. Boyce, Angela Morgan, Michael S. Hildebrand, Antony Kaspi, Melanie Bahlo, Rún Friðriksdóttir, Hildigunnur Katrínardóttir, Patrick Sulem, Kāri Stefánsson, Hans T. Björnsson, Simone Mandelstam, Manuela Morleo, Milena Mariani, Marcello Scala, Andrea Accogli, Annalaura Torella, Valeria Capra, Mathew Wallis, Sandra Jansen, Quinten Waisfisz, Hugoline G. de Haan, Simon Sadedin, Sze Chern Lim, Susan M. White, David B. Ascher

    出版事項 2022
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