Clara W T Chung

Biallelic loss-of-function variants in RABGAP1 cause a novel neurodevelopmental syndrome.

Michael D. Wilson, H. Fuchs, J. Dowling, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Early Detection of Tuberous Sclerosis Complex: An Opportunity for Improved Neurodevelopmental Outcome.

D. Mowat, O. Wargon, A. Shand, 2017, Pediatric 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.

RASA1 mosaic mutations in patients with capillary malformation-arteriovenous malformation

R. Helaers, M. Vikkula, A. Irvine, 2019, Journal of Medical Genetics.

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

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

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.

MERTK retinopathy: biomarkers assessing vision loss

P. McCluskey, Afsah Zaheer, Benjamin M. Nash, 2021, Ophthalmic genetics.

Keeping you on your toes: Smith–Lemli–Opitz Syndrome is an easily missed cause of developmental delays

C. Ellaway, Ashley Hertzog, Clara W T Chung, 2023, Clinical case reports.

Congenital subpendymal giant cell astrocytoma in children with tuberous sclerosis complex: growth patterns and neurological outcome

M. Farrar, D. Mowat, J. Lawson, 2020, Pediatric Research.