Sergiusz Jóźwiak

Identification of the Tuberous Sclerosis Gene <i>TSC1</i> on Chromosome 9q34

Marjon van Slegtenhorst, Ronald De Hoogt, Caroline Hermans et al. · Science · 1997 · 1.7K citations

Medicine, Genetics, Molecular Genetics +16

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

Efficacy and safety of everolimus for subependymal giant cell astrocytomas associated with tuberous sclerosis complex (EXIST-1): a multicentre, randomised, placebo-controlled phase 3 trial

David Neal Franz, Steven Sparagana, E. Martina Bebin et al. · The Lancet · 2012 · 784 citations

Medicine, Neurology, Oncology +10