Phenotypic distinctions between mosaic forms of tuberous sclerosis complex

Tuberous Sclerosis Complex Diagnostic Criteria Update: Recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference

Hope Northrup, Darcy A. Krueger, Hope Northrup et al. · Pediatric Neurology · 2013 · 1.5K citations · Full text

Medicine, Neurology, Medical Genetics +6

Mutational Analysis in a Cohort of 224 Tuberous Sclerosis Patients Indicates Increased Severity of TSC2, Compared with TSC1, Disease in Multiple Organs

Sandra L. Dabora, Sergiusz Jóźwiak, David Neal Franz et al. · The American Journal of Human Genetics · 2001 · 1K citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

Tuberous Sclerosis Complex Surveillance and Management: Recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference

Darcy A. Krueger, Hope Northrup, Hope Northrup et al. · Pediatric Neurology · 2013 · 860 citations · Full text

Medicine, Neurology, Pediatrics +11

Mutational analysis of the TSC1 and TSC2 genes in a diagnostic setting: genotype – phenotype correlations and comparison of diagnostic DNA techniques in Tuberous Sclerosis Complex

Őzgür Sancak, Mark Nellist, Miriam Goedbloed et al. · European Journal of Human Genetics · 2005 · 488 citations

Medicine, Genetics, Molecular Genetics +17

Mosaic and Intronic Mutations in TSC1/TSC2 Explain the Majority of TSC Patients with No Mutation Identified by Conventional Testing

Magdalena E. Tyburczy, Kira A. Dies, Jennifer Glass et al. · PLoS Genetics · 2015 · 300 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16