Smitha Kumble

Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System

Sebastian Lunke, Stefanie Eggers, Meredith Wilson et al. · JAMA · 2020 · 237 citations · Full text

Medicine, Child Health, Pediatrics +13

Meeting the challenges of implementing rapid genomic testing in acute pediatric care

Zornitza Stark, Sebastian Lunke, Gemma R. Brett et al. · Genetics in Medicine · 2018 · 162 citations · Full text

Medicine, Genetics, Pediatrics +17

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 · 104 citations · Full text

Life Sciences, Molecular Biology, Molecular Genetics +17

A cost-effectiveness analysis of genomic sequencing in a prospective versus historical cohort of complex pediatric patients

Alison Yeung, Natalie B. Tan, Tiong Yang Tan et al. · Genetics in Medicine · 2020 · 37 citations · Full text

Life Sciences, Genetics, Pediatrics +17

The clinical and molecular spectrum of <i>QRICH1</i> associated neurodevelopmental disorder

Smitha Kumble, Amanda M. Levy, Jaya Punetha et al. · Human Mutation · 2021 · 20 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17