Carvill, Gemma L.

Top Publications

Top Publications Authored or Co-Authored by "Carvill, Gemma L."

• A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

  Nature Genetics, Volume 41, No. 5, Year 2009, Citations 599
• A fundamental study of the PCR amplification of GC-rich DNA templates

  Computational Biology and Chemistry, Volume 32, No. 6, Year 2008, Citations 131
• Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly

  Genetics in Medicine, Volume 20, No. 11, Year 2018, Citations 90
• Seizures Are Regulated by Ubiquitin-specific Peptidase 9 X-linked (USP9X), a De-Ubiquitinase

  PLoS Genetics, Volume 11, No. 3, Article e1005022, Year 2015, Citations 65
• Precision medicine for developmental and epileptic encephalopathies in Africa—strategies for a resource-limited setting

  Genetics in Medicine, Volume 25, No. 2, Article 100333, Year 2023, Citations 53