Dorota Domańska‐Pakieła

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 · 991 citations · Full text

Mutational Analysis, Mendelian Disorder, Genetic Disorder +10

Antiepileptic treatment before the onset of seizures reduces epilepsy severity and risk of mental retardation in infants with tuberous sclerosis complex

Sergiusz Jóźwiak, Katarzyna Kotulska, Dorota Domańska‐Pakieła et al. · European Journal of Paediatric Neurology · 2011 · 304 citations · Full text

Prevention of Epilepsy in Infants with Tuberous Sclerosis Complex in the <scp>EPISTOP</scp> Trial

Katarzyna Kotulska, David J. Kwiatkowski, Paolo Curatolo et al. · Annals of Neurology · 2020 · 240 citations · Full text

Identification of 54 large deletions/duplications in TSC1 and TSC2 using MLPA, and genotype-phenotype correlations

Piotr Kozłowski, Penelope Roberts, Sandra L. Dabora et al. · Human Genetics · 2007 · 179 citations

Biology, Genotype-phenotype Correlations, Allelic Variant +9

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 · 170 citations