Anja Ravine

机构：The University of Melbourne, Murdoch Children's Research Institute · ORCID：0009-0007-7163-056X

发表论文 17 篇 · 总被引 314 次 · h-index 6

代表论文

• Gene selection for the Australian Reproductive Genetic Carrier Screening Project (“Mackenzie’s Mission”) (2020 · European Journal of Human Genetics · 被引 122)
• Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants (2021 · Genetics in Medicine · 被引 107)
• Shariant platform: Enabling evidence sharing across Australian clinical genetic-testing laboratories to support variant interpretation (2022 · The American Journal of Human Genetics · 被引 35)
• RLIM Is a Candidate Dosage-Sensitive Gene for Individuals with Varying Duplications of Xq13, Intellectual Disability, and Distinct Facial Features (2020 · The American Journal of Human Genetics · 被引 12)
• Newborn Screening for the Diagnosis and Treatment of Duchenne Muscular Dystrophy (2022 · Journal of Neuromuscular Diseases · 被引 11)
• Cass Review does not guide care for trans young people (2025 · The Medical Journal of Australia · 被引 9)