Emma I. 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.

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.

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.

Experience of the first adult-focussed undiagnosed disease program in Australia (AHA-UDP): solving rare and puzzling genetic disorders is ageless

S. Mullen, G. Valente, D. Eratne, 2024, Orphanet journal of rare diseases.