Concepedia

Lilian Downie

LD

23

Publications

1.4K

Citations

16

H-Index

2013

Active since

Affiliations

Murdoch Children's Research Institute(Current)

The University of Melbourne

Victorian Clinical Genetics Services

Melbourne Genomics Health Alliance

Royal Children's Hospital

Lilian Downie is an author at Murdoch Children's Research Institute specializing in medicine, genetics, and pediatrics.

Top concepts

MedicineGeneticsPediatricsGenetic EpidemiologyGenomicsPrenatal DiagnosisArtsAudiologyPathologyHearing Loss

Publications per year

2013–2024

23

Publications

23

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 et al. · Genetics in Medicine · 2016 · 399 citations · Full text

Mendelian Disorder, Genetic Disorder, Whole-exome Sequencing +12

Diagnostic Impact and Cost-effectiveness of Whole-Exome Sequencing for Ambulant Children With Suspected Monogenic Conditions

Tiong Yang Tan, Oliver James Dillon, Zornitza Stark et al. · JAMA Pediatrics · 2017 · 318 citations

Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants

Adam Bournazos, Lisa G. Riley, Shobhana Bommireddipalli et al. · Genetics in Medicine · 2021 · 99 citations

Medicine, Genetics, Rna Splicing +11

ClinGen expert clinical validity curation of 164 hearing loss gene–disease pairs

Marina T. DiStefano, Sarah E. Hemphill, Andrea M. Oza et al. · Genetics in Medicine · 2019 · 91 citations · Full text

Genetic Epidemiology, Audiology, Pathology +9

Congenital chylothorax: Associations and neonatal outcomes

Lilian Downie, Arun Sasi · Journal of Paediatrics and Child Health · 2013 · 69 citations

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