The Children's Hospital at Westmead

Top Publications

Top Publications Authored or Co-Authored in "The Children's Hospital at Westmead"

• Pan-cancer analysis of whole genomes

  Nature, Volume 578, No. 7793, Year 2020, Citations 1407
• Case definitions, diagnostic algorithms, and priorities in encephalitis: Consensus statement of the international encephalitis consortium

  Clinical Infectious Diseases, Volume 57, No. 8, Year 2013, Citations 676
• Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1

  American Journal of Medical Genetics, Part A, Volume 167, No. 2, Year 2015, Citations 449
• Comprehensive analysis of chromothripsis in 2,658 human cancers using whole-genome sequencing

  Nature Genetics, Volume 52, No. 3, Year 2020, Citations 308
• Mutations in the gene encoding immunoglobulin μ-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1

  Nature Genetics, Volume 29, No. 1, Year 2001, Citations 301