E. Krzesinski

The clinical utility of exome sequencing and extended bioinformatic analyses in adolescents and adults with a broad range of neurological phenotypes: an Australian perspective

P. Kwan, Z. Ademi, S. Berkovic, 2020, Journal of the Neurological Sciences.

Early diagnosis of Pearson syndrome in neonatal intensive care following rapid mitochondrial genome sequencing in tandem with exome sequencing

N. Brown, J. Christodoulou, Z. Stark, 2019, European Journal of Human Genetics.

Comparing saliva and blood for the detection of mosaic genomic abnormalities that cause syndromic intellectual disability

I. Scheffer, Anand Vasudevan, K. Oliver, 2022, European Journal of Human Genetics.

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.

Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death

Ryan L. Collins, Jack M. Fu, Beryl B. Cummings, 2023, Nature Medicine.

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.

Rapid exome sequencing and adjunct RNA studies confirm the pathogenicity of a novel homozygous ASNS splicing variant in a critically ill neonate

J. Christodoulou, Z. Stark, K. Rose, 2020, Human mutation.

Clinical impact of genomic testing in patients with suspected monogenic kidney disease

P. Kerr, Z. Stark, A. Mallett, 2020, Genetics in medicine : official journal of the American College of Medical Genetics.

Neural tube defect diagnosis and outcomes at a tertiary South African hospital with intensive case ascertainment.

L. Geerts, E. Krzesinski, M. Urban, 2019, South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde.

Multi-omics identifies large mitoribosomal subunit instability caused by pathogenic MRPL39 variants as a cause of pediatric onset mitochondrial disease.

V. Mootha, M. Lek, S. Calvo, 2023, Human Molecular Genetics.