Alan S. Ma
Westmead, NSW, Australia
Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 51 publications
Genomics and precision medicine: The expanding role of general practitioners.
Journal: Australian journal of general practice
Published: February 08, 2026
Genomics and precision medicine: The expanding role of general practitioners.
Journal: Australian journal of general practice
Published: February 08, 2026
A Practical Guide to Chromosome Microarray Interpretation for Paediatricians.
Journal: Journal of paediatrics and child health
Published: July 20, 2025
The quality-of-life impacts and economic burden of X-linked retinitis pigmentosa caused by variants in RPGR.
Journal: Eye (London, England)
Published: July 15, 2025
Longitudinal study in autosomal recessive PROM1 inherited retinal disease.
Journal: Ophthalmic genetics
Published: June 10, 2025
A Practical Guide to Genetic Eye Conditions for Paediatricians.
Journal: Journal of paediatrics and child health
Published: April 02, 2025
Building capacity for genomics in primary care: a scoping review of practitioner attitudes, education needs, and enablers.
Journal: Frontiers in medicine
Published: February 17, 2025
Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption.
Journal: Nature genetics
Published: October 02, 2024
Dismantling barriers to research and clinical care for individuals with a vision impairment.
Journal: The Medical journal of Australia
Published: July 15, 2024
Navigating an Uninformative Genomic Test Result: A Practical Guide.
Journal: Journal of paediatrics and child health
Published: June 06, 2024
De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders.
Journal: medRxiv : the preprint server for health sciences
Published: April 22, 2024
Last Updated: 09/26/2026