Author Information
Tony Roscioli is affiliated with NSW Health Pathology Randwick Genomics, Prince of Wales Hospital, Randwick, New South Wales, Australia. He is also associated with Neuroscience Research Australia (NeuRA) and the Centre for Clinical Genetics at Sydney Children's Hospital, both located in Randwick, New South Wales, Australia. His research primarily focuses on genetics and genomics, particularly in the context of neurodevelopmental disorders and Mendelian diseases.Research Contributions
Tony Roscioli has made significant contributions to the field of genetics, as evidenced by his recent publications. In 2022 alone, he co-authored several papers, including studies on the PIGV P.L472p mutation identified by exome sequencing, BCAS3-related neurodevelopmental disorders, germline variants in tumor suppressor FBXW7, neonatal-lethal dilated cardiomyopathy, and novel diagnostic DNA methylation episignatures. His work spans a variety of genetic disorders and employs advanced techniques such as whole genome sequencing, flow cytometry, and epigenetic analysis to better understand the genetic basis of these conditions.Aliases
Tony Roscioli is also known by the aliases T Roscioli and T. Roscioli.Publication and Citation Metrics
| Metric |
Value |
| Total Citations |
5415 |
| h-index |
37 |
| Total Papers |
183 |
