Smitha Kumble

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

N. Brown, Natalie B Tan, D. Phelan, 2020, Genetics in Medicine.

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

Melbourne Genomics Health Alliance, Natalie B Tan, D. Phelan, 2018, Genetics in Medicine.

Colour and spectral reflectance of stools from normal neonatal babies

Lewis D. Griffin, D. Mylonas, A. Sutcliffe, 2015 .

The diverse pleiotropic effects of spliceosomal protein PUF60: A case series of Verheij syndrome

I. Scheffer, S. Berkovic, Z. Stark, 2022, American journal of medical genetics. Part A.

Emerging therapies for Achondroplasia: changing the rules of the game

R. Savarirayan, Smitha Kumble, 2021, Expert opinion on emerging drugs.

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

N. Brown, S. Sandaradura, T. Roscioli, 2020, JAMA.

Neonatal Bartter syndrome diagnosed by rapid genomics following low risk pre‐conception carrier screening

Z. Stark, M. Delatycki, Smitha Kumble, 2022, Journal of paediatrics and child health.

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

Robert J. Weatheritt, Stephanie L. White, N. Brown, 2021, Genetics in medicine : official journal of the American College of Medical Genetics.

The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder

Undiagnosed Diseases Network, J. Rosenfeld, N. Brown, 2021, Human mutation.

Trichohepatoenteric Syndrome Presenting with Severe Infection and Later Onset Diarrhoea

S. Choo, M. Cook, Smitha Kumble, 2017, Journal of Clinical Immunology.

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

Natalie B Tan, D. Phelan, Z. Stark, 2018, Genetics in Medicine.