Turner, Gillian M.

Top Publications

Top Publications Authored or Co-Authored by "Turner, Gillian M."

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

  Nature Genetics, Volume 41, No. 5, Year 2009, Citations 599
• SLC9A6 Mutations Cause X-Linked Mental Retardation, Microcephaly, Epilepsy, and Ataxia, a Phenotype Mimicking Angelman Syndrome

  American Journal of Human Genetics, Volume 82, No. 4, Year 2008, Citations 216
• Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation

  Nature Genetics, Volume 35, No. 4, Year 2003, Citations 160
• Mutations in Cullin 4B result in a human syndrome associated with increased camptothecin-induced topoisomerase I-dependent DNA breaks

  Human Molecular Genetics, Volume 19, No. 7, Article ddq008, Year 2010, Citations 60
• Mutation screening in Börjeson-Forssman-Lehmann syndrome: Identification of a novel de novo PHF6 mutation in a female patient

  Journal of Medical Genetics, Volume 43, No. 3, Year 2006, Citations 48