Showing 1–6 of 6 results
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Research |
A head-to-head evaluation of the diagnostic efficacy and costs of trio versus singleton exome sequencing analysis
- Tiong Yang Tan
- , Sebastian Lunke
- , Belinda Chong
- , Dean Phelan
- , Miriam Fanjul-Fernandez
- , 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 L. Gaff
- & Susan M. White
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Research |
Meeting the challenges of implementing rapid genomic testing in acute pediatric care
- Zornitza Stark
- , Sebastian Lunke
- , Gemma R Brett
- , Natalie B Tan
- , Rachel Stapleton
- , Smitha Kumble
- , Alison Yeung
- , Dean G Phelan
- , Belinda Chong
- , Miriam Fanjul-Fernandez
- , Justine E Marum
- , Matthew Hunter
- , Anna Jarmolowicz
- , Yael Prawer
- , Jessica R Riseley
- , Matthew Regan
- , Justine Elliott
- , Melissa Martyn
- , Stephanie Best
- , Tiong Y Tan
- , Clara L Gaff
- & Susan M White
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Research |
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Research |
A craniosynostosis massively parallel sequencing panel study in 309 Australian and New Zealand patients: findings and recommendations
- Eric Lee
- , Trang Le
- , Ying Zhu
- , George Elakis
- , Anne Turner
- , William Lo
- , Hanka Venselaar
- , Carol-Ann Verrenkamp
- , Nicole Snow
- , David Mowat
- , Edwin Philip Kirk
- , Rani Sachdev
- , Janine Smith
- , Natasha Jane Brown
- , Mathew Wallis
- , Chris Barnett
- , Fiona McKenzie
- , Mary-Louise Freckmann
- , Felicity Collins
- , Maya Chopra
- , Nerine Gregersen
- , Ian Hayes
- , Sulekha Rajagopalan
- , Tiong Yang Tan
- , Zornitza Stark
- , Ravi Savarirayan
- , Alison Yeung
- , Lesley Adès
- , Michael Gattas
- , Kate Gibson
- , Michael Gabbett
- , David John Amor
- , Wanda Lattanzi
- , Simeon Boyd
- , Eric Haan
- , Mark Gianoutsos
- , Timothy Chilton Cox
- , Michael Francis Buckley
- & Tony Roscioli
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Research |
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A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders
- Zornitza Stark
- , Tiong Y. 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