Amanda Springer

Ethylmalonic encephalopathy masquerading as meningococcemia

S. Goergen, J. Christodoulou, D. Phelan, 2022, Cold Spring Harbor molecular case studies.

Co-design, implementation, and evaluation of plain language genomic test reports

Z. Stark, Gemma R. Brett, G. Brett, 2022, npj Genomic Medicine.

Parental experiences of ultrarapid genomic testing for their critically unwell infants and children

S. Sandaradura, Meredith Wilson, Anand Vasudevan, 2020, 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.

EED and EZH2 constitutive variants: A study to expand the Cohen‐Gibson syndrome phenotype and contrast it with Weaver syndrome

C. Pantaleoni, L. Behan, E. Roche, 2019, American Journal of Medical Genetics. Part A.

Growth disrupting mutations in epigenetic regulatory molecules are associated with abnormalities of epigenetic aging

D. Baralle, J. Mill, H. Cross, 2018, bioRxiv.

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.