Sarah Righetti

The relationship between beta-ureidopropionase deficiency due to UPB1 variants and human phenotypes is uncertain.

A. V. van Kuilenburg, N. Laing, M. Delatycki, 2022, Molecular genetics and metabolism.

The Australian Reproductive Genetic Carrier Screening Project (Mackenzie’s Mission): Design and Implementation

P. Scuffham, J. Braithwaite, N. Laing, 2022, Journal of personalized medicine.

The views of people with a lived experience of deafness and the general public regarding genetic testing for deafness in the reproductive setting: A systematic review.

M. Delatycki, J. Scully, E. Kirk, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Diagnostic Yield of Whole Genome Sequencing After Nondiagnostic Exome Sequencing or Gene Panel in Developmental and Epileptic Encephalopathies

S. Mundlos, S. Kummerfeld, L. Hesson, 2021, Neurology.

Gene selection for the Australian Reproductive Genetic Carrier Screening Project (“Mackenzie’s Mission”)

N. Laing, T. Roscioli, Meredith Wilson, 2020, European Journal of Human Genetics.

Correspondence on "Screening for autosomal recessive and X-linked conditions during pregnancy and preconception: a practice resource of the American College of Medical Genetics and Genomics (ACMG)" by Gregg et al.

N. Laing, M. Delatycki, A. Archibald, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Gene selection for the Australian Reproductive Genetic Carrier Screening Project (“Mackenzie’s Mission”)

N. Laing, T. Roscioli, Meredith Wilson, 2020, European Journal of Human Genetics.

Scaling-up and future sustainability of a national reproductive genetic carrier screening program

J. Braithwaite, C. Pope, A. Archibald, 2023, NPJ genomic medicine.