Tomasz Mazurczak
Publications by Year
Research Areas
Epilepsy research and treatment, Genetics and Neurodevelopmental Disorders, Neurological disorders and treatments, Genetic Neurodegenerative Diseases, Genomic variations and chromosomal abnormalities
Most-Cited Works
- → Recurrent Distal 7q11.23 Deletion Including HIP1 and YWHAG Identified in Patients with Intellectual Disabilities, Epilepsy, and Neurobehavioral Problems(2010)97 cited
- → The spectrum of intermediate SCN8A‐related epilepsy(2019)92 cited
- → Different‐sized duplications of Xq28, including MECP2, in three males with mental retardation, absent or delayed speech, and recurrent infections(2007)60 cited
- → Application of array comparative genomic hybridization in 102 patients with epilepsy and additional neurodevelopmental disorders(2012)56 cited
- → The Generation of Human iPSC Lines from Three Individuals with Dravet Syndrome and Characterization of Neural Differentiation Markers in iPSC-Derived Ventral Forebrain Organoid Model(2023)13 cited
- → Friedreich ataxia is not only a GAA repeats expansion disorder: implications for molecular testing and counselling(2016)12 cited
- The spectrum of PLP1 gene mutations in patients with the classical form of the Pelizaeus-Merzbacher disease.(2014)
- → Dravet Syndrome—The Polish Family’s Perspective Study(2021)10 cited
- → Pelizaeus-Merzbacher disease in patients with molecularly confirmed diagnosis(2016)6 cited
- → Genetic Risk Factors for Neurological Disorders in Children with Adverse Events Following Immunization: A Descriptive Study of a Polish Case Series(2023)3 cited