About
Dr. Janine Smith is a Lecturer in the Paediatrics & Child Health department at the University of Sydney, affiliated with the Children's Hospital, Westmead. Her research focuses on genetic diseases, musculoskeletal diseases, and reproductive, maternal, and child health. She has contributed extensively to studies in mitochondrial disorders, congenital heart disease, and genomic medicine.
Key themes in her work include Healthy Ageing, Lifespan, and clinical genetics. Her publications span high-impact journals such as New England Journal of Medicine and Nature Genetics, emphasizing genotype-phenotype correlations, epigenetic biomarkers, and genetic diagnostics. Recent articles highlight advances in long-read sequencing and whole-genome analysis for complex conditions like intellectual disability and retinal dystrophies.
Contact: janine.smith@sydney.edu.au
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