Schwartz, Charles E.

Top Publications

Top Publications Authored or Co-Authored by "Schwartz, Charles E."

• 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
• Phenotype and genotype in 101 males with x-linked creatine transporter deficiency

  Journal of Medical Genetics, Volume 50, No. 7, Year 2013, Citations 121
• X linked severe mental retardation, craniofacial dysmorphology, epilepsy, ophthalmoplegia, and cerebellar atrophy in a large South African kindred is localised to Xq24-q27

  Journal of Medical Genetics, Volume 36, No. 10, Year 1999, Citations 103
• 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