Sharon J. Chin

Challenges in Diagnosing Intermediate Maple Syrup Urine Disease by Newborn Screening and Functional Validation of Genomic Results Imperative for Reproductive Family Planning

J. Fletcher, S. Balasubramaniam, G. Ho, 2021, International journal of neonatal screening.

Prevalence of lysosomal storage disorders in Australia from 2009 to 2020

S. Chin, M. Fuller, Sharon J. Chin, 2021, The Lancet regional health. Western Pacific.

Chondroitin sulfate disaccharide is a specific and sensitive biomarker for mucopolysaccharidosis type IVA

J. Fletcher, A. Zankl, M. Fuller, 2020, JIMD reports.

Frequency of intron 8 CFTR polythymidine sequence variant in neonatal blood specimens

E. Ranieri, W. Carey, P. Nelson, 1997, The Lancet.

A common PEX1 frameshift mutation in patients with disorders of peroxisome biogenesis correlates with the severe Zellweger syndrome phenotype

D. Crane, M. A. Maxwell, P. V. Nelson, 1999, Human Genetics.