M
Maie Walsh
Researcher at Royal Melbourne Hospital
Publications - 23
Citations - 826
Maie Walsh is an academic researcher from Royal Melbourne Hospital. The author has contributed to research in topics: Genetic testing & Exome. The author has an hindex of 7, co-authored 21 publications receiving 590 citations. Previous affiliations of Maie Walsh include Royal Children's Hospital & University of Melbourne.
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Journal ArticleDOI
A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders
Zornitza Stark,Tiong Yang Tan,Belinda Chong,Gemma R Brett,Patrick Yap,Maie Walsh,Alison Yeung,Heidi Peters,Heidi Peters,Dylan A. Mordaunt,Dylan A. Mordaunt,Shannon Cowie,David J. Amor,Ravi Savarirayan,George McGillivray,Lilian Downie,Paul G Ekert,Christiane Theda,Christiane Theda,Paul A. James,Joy Yaplito-Lee,Monique M. Ryan,Monique M. Ryan,Richard J. Leventer,Richard J. Leventer,Emma Creed,Ivan Macciocca,Katrina M. Bell,Alicia Oshlack,Simon Sadedin,Peter Georgeson,Charlotte Anderson,Natalie P. Thorne,Clara Gaff,Susan M. White +34 more
TL;DR: Singleton WES outperformed standard care in terms of diagnosis rate and the benefits of a diagnosis, namely, impact on management of the child and clarification of reproductive risks for the extended family in a timely manner.
Journal ArticleDOI
Diagnostic Impact and Cost-effectiveness of Whole-Exome Sequencing for Ambulant Children With Suspected Monogenic Conditions
Tiong Yang Tan,Oliver James Dillon,Zornitza Stark,Deborah Schofield,Deborah Schofield,Khurshid Alam,Rupendra N. 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,Heidi Peters,Susan J. Robertson,Aaron J. Robinson,Ivan Macciocca,Simon Sadedin,Katrina M. Bell,Alicia Oshlack,Peter Georgeson,Natalie P. Thorne,Clara Gaff,Clara Gaff,Susan M. White +31 more
TL;DR: Singleton WES in children with suspected monogenic conditions has high diagnostic yield, and cost-effectiveness is maximized by early application in the diagnostic pathway, compared with the standard diagnostic pathway.
Journal ArticleDOI
Mutations in PMPCB Encoding the Catalytic Subunit of the Mitochondrial Presequence Protease Cause Neurodegeneration in Early Childhood
F.-Nora Vögtle,Björn Brändl,Austin Larson,Manuela Pendziwiat,Marisa W. Friederich,Susan M. White,Alice Basinger,Cansu Kücükköse,Hiltrud Muhle,Johanna A. Jähn,Oliver Keminer,Katherine L. Helbig,Carolyn F. Delto,Lisa Myketin,Dirk Mossmann,Nils Burger,Noriko Miyake,Audrey Burnett,Andreas van Baalen,Mark A. Lovell,Naomichi Matsumoto,Maie Walsh,Hung-Chun Yu,Deepali N. Shinde,Ulrich Stephani,Johan L.K. Van Hove,Franz-Josef Müller,Ingo Helbig,Ingo Helbig +28 more
TL;DR: It is concluded that biallelic mutations in PMPCB cause defects in MPP proteolytic activity leading to dysregulation of iron-sulfur cluster biogenesis and triggering a complex neurological phenotype of neurodegeneration in early childhood.
Journal ArticleDOI
Diagnostic and cost utility of whole exome sequencing in peripheral neuropathy.
Maie Walsh,Katrina M. Bell,Belinda Chong,Emma Creed,Gemma R Brett,Kate Pope,Natalie P. Thorne,Simon Sadedin,Peter Georgeson,Dean Phelan,Timothy Day,J. Taylor,Adrienne Sexton,Paul J. Lockhart,L. Kiers,Michael C Fahey,Ivan Macciocca,Clara Gaff,Alicia Oshlack,Eppie M. Yiu,Eppie M. Yiu,Paul A. James,Paul A. James,Zornitza Stark,Monique M. Ryan +24 more
TL;DR: To explore the diagnostic utility and cost effectiveness of wholeExome sequencing (WES) in a cohort of individuals with peripheral neuropathy, whole exome sequencing is used as a diagnostic tool and cost effective method.
Journal ArticleDOI
Genotype and phenotype spectrum of NRAS germline variants.
Franziska Altmüller,Christina Lissewski,Débora Romeo Bertola,Elisabetta Flex,Zornitza Stark,Stephanie Spranger,Gareth Baynam,Michelle Buscarilli,Sarah Dyack,Jane Gillis,Helger G. Yntema,Francesca Pantaleoni,Rosa L. E. van Loon,Sara MacKay,Kym Mina,Ina Schanze,Tiong Yang Tan,Maie Walsh,Susan M. White,Marena R. Niewisch,Sixto García-Miñaur,Diego Plaza,Mohammad Reza Ahmadian,Hélène Cavé,Marco Tartaglia,Martin Zenker +25 more
TL;DR: The genotype and phenotype spectrum of RASopathy-associated germline NRAS variants is expanded and evidence is provided thatNRAS variants do not spare the cancer-associated mutation hotspots.