Jolanta Kasprzyk‐Obara

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

Clinical and Genotype Studies of Cardiac Tumors in 154 Patients With Tuberous Sclerosis Complex

Sergiusz Jóźwiak, Katarzyna Kotulska, Jolanta Kasprzyk‐Obara et al. · PEDIATRICS · 2006 · 172 citations

Medicine, Genetics, Pediatrics +16

Superiority of Denaturing High Performance Liquid Chromatography over single‐stranded conformation and conformation‐sensitive gel electrophoresis for mutation detection in TSC2

Yew-Sing Choy, Sandra L. Dabora, F. Scott Hall et al. · Annals of Human Genetics · 1999 · 125 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Comprehensive mutational analysis of the TSC1 gene: observations on frequency of mutation, associated features, and nonpenetrance

J. Kwiatkowska, Sergiusz Jóźwiak, F. Scott Hall et al. · Annals of Human Genetics · 1998 · 69 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Cerebral tuber count and its impact on mental outcome of patients with tuberous sclerosis complex

Magdalena Kaczorowska, Elżbieta Jurkiewicz, Dorota Domańska‐Pakieła et al. · Epilepsia · 2011 · 67 citations · Full text

Medicine, Neurology, Neuroscience +15