Richard Jacob Leventer

机构：Royal Children's Hospital, The University of Melbourne, Austin Hospital, Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Austin Health · ORCID：0000-0003-0362-5607

发表论文 256 篇 · 总被引 12565 次 · h-index 64

代表论文

• De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome (2024 · Nature · 被引 135)
• Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants (2021 · Genetics in Medicine · 被引 107)
• Australian Genomics: Outcomes of a 5-year national program to accelerate the integration of genomics in healthcare (2023 · The American Journal of Human Genetics · 被引 79)
• PURA- Related Developmental and Epileptic Encephalopathy (2021 · Neurology Genetics · 被引 55)
• Cortical Dysplasia and the mTOR Pathway: How the Study of Human Brain Tissue Has Led to Insights into Epileptogenesis (2022 · International Journal of Molecular Sciences · 被引 45)
• Exome Sequencing and the Identification of New Genes and Shared Mechanisms in Polymicrogyria (2023 · JAMA Neurology · 被引 35)