Ma, Alan

Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System

Australian Genomics Health Alliance Acute Care Flagship, Lunke, S., Eggers, S., Wilson, M., Patel, C., Barnett, C. P., Pinner, J., Sandaradura, S. A., Buckley, M. F., Krzesinski, E. I., et al. (2020) · JAMA

Genomics and Rare DiseasesMetabolism and Genetic Disorders

Cited by 239

The health care and societal costs of inherited retinal diseases in Australia: a microsimulation modelling study

Schofield, D., Kraindler, J., Tan, O., Shrestha, R. N., West, S., Hart, N., Tan, L., Ma, A., Grigg, J. R., & Jamieson, R. V. (2023) · Medical Journal of Australia

Retinal Development and DisordersHealth Systems, Economic Evaluations, Quality of Life

Cited by 22

De novo ZMYND8 variants result in an autosomal dominant neurodevelopmental disorder with cardiac malformations

Dias, K.-R., Carlston, C. M., Blok, L. E. R., De Hayr, L., Nawaz, U., Evans, C.-A., Bayrak-Toydemir, P., Htun, S., Zhu, Y., Ma, A., et al. (2022) · Genetics in Medicine

Genetics and Neurodevelopmental DisordersGenomics and Rare Diseases

Cited by 13