Hayley Salvemini

Professional regulation for Australasian genetic counselors

A. McEwen, M. Young, I. Macciocca, 2020, Journal of genetic counseling.

Pathogenic variants in glutamyl-tRNAGln amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorder

Pedro Rebelo-Guiomar, M. Minczuk, G. Pruijn, 2018, Nature Communications.

Pathogenic variants in glutamyl-tRNAGln amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorder

Pedro Rebelo-Guiomar, M. Minczuk, J. Veltman, 2018, Nature Communications.

Is there a Role for Genetic Counselors in Prenatal Paternity Testing? – an Assessment Based on Audit of 13 years of Clinical Experience in South Australia

E. Haan, Lara Fitzgerald, S. Borrie, 2017, Journal of Genetic Counseling.

Presentation of m.3243A>G (MT‐TL1; tRNALeu) variant with focal neurology in infancy

K. Kassahn, H. Scott, D. Ketteridge, 2015, American journal of medical genetics. Part A.