L
Lilian Downie
Researcher at University of Melbourne
Publications - 27
Citations - 898
Lilian Downie is an academic researcher from University of Melbourne. The author has contributed to research in topics: Medicine & Exome sequencing. The author has an hindex of 7, co-authored 19 publications receiving 591 citations. Previous affiliations of Lilian Downie include Royal Melbourne Hospital & Monash Medical Centre.
Papers
More filters
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
Congenital chylothorax: associations and neonatal outcomes.
TL;DR: The study aims to describe the related associations, management and outcomes of this condition in neonates with major morbidity and mortality.
Journal ArticleDOI
Exome sequencing in infants with congenital hearing impairment: a population-based cohort study
Lilian Downie,Jane Halliday,Rachel A. Burt,Sebastian Lunke,Elly Lynch,Melissa Martyn,Zeffie Poulakis,Zeffie Poulakis,Clara Gaff,Valerie Sung,Valerie Sung,Melissa Wake,Matthew F. Hunter,Kerryn Saunders,Elizabeth Rose,Elizabeth Rose,Sharon Lewis,Anna Jarmolowicz,Dean Phelan,Heidi L. Rehm,David J. Amor +20 more
TL;DR: WES in this cohort demonstrates the range of diagnoses associated with congenital HI and confirms the genetic heterogeneity of congenital HI, and emphasises the need for genomic sequencing to become standard of care.