Area of research
Genetics · Molecular Biology
Research interest
Research interests include Biology, Exome sequencing, Genetics, Gene, Medicine, and Limb-girdle muscular dystrophy.
The Australian Reproductive Genetic Carrier Screening Project (Mackenzie’s Mission): Design and Implementation
Gene selection for the Australian Reproductive Genetic Carrier Screening Project (“Mackenzie’s Mission”)
Mutations in ATP1A1 Cause Dominant Charcot-Marie-Tooth Type 2
Use of Whole-Exome Sequencing for Diagnosis of Limb-Girdle Muscular Dystrophy
Mutations of GPR126 Are Responsible for Severe Arthrogryposis Multiplex Congenita
Mutations in repeating structural motifs of tropomyosin cause gain of function in skeletal muscle myopathy patients