Natalie B Tan

Insights into the genotype‐phenotype correlation and molecular function of SLC25A46

I. Campeanu, Alexander J Abrams, F. Fontanesi, 2018, Human mutation.

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.

Evaluating systematic reanalysis of clinical genomic data in rare disease from single center experience and literature review

N. Brown, Natalie B Tan, D. Phelan, 2020, Molecular genetics & genomic medicine.

Diagnostic and service impact of genomic testing technologies in a neonatal intensive care unit

Natalie B Tan, Z. Stark, D. Amor, 2019, Journal of paediatrics and child health.

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.

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.

Lessons learnt from multifaceted diagnostic approaches to the first 150 families in Victoria’s Undiagnosed Diseases Program

D. MacArthur, N. Brown, A. O’Donnell-Luria, 2021, Journal of Medical Genetics.

Recurrent de novo missense variants in GNB2 can cause syndromic intellectual disability

A. Pagnamenta, B. Chung, S. Guter, 2021, Journal of Medical Genetics.

Bi-allelic LoF NRROS Variants Impairing Active TGF-β1 Delivery Cause a Severe Infantile-Onset Neurodegenerative Condition with Intracranial Calcification.

I. Scheffer, M. Tartaglia, J. Christodoulou, 2020, American journal of human genetics.

Reanalysis of genomic data: An overview of the mechanisms and complexities of clinical adoption.

A. Spurdle, N. Waddell, Alan J. Robertson, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

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

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