Alex R. Paciorkowski

Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairment

Nicola Brunetti‐Pierri, Alex R. Paciorkowski, Roberto Ciccone et al. · European Journal of Human Genetics · 2010 · 188 citations · Full text

Medicine, Genetics, Molecular Genetics +16

Genetics and genotype–phenotype correlations in early onset epileptic encephalopathy with burst suppression

Heather E. Olson, McKenna Kelly, Christopher M. LaCoursiere et al. · Annals of Neurology · 2017 · 144 citations

Life Sciences, Genetics, Molecular Genetics +17

De Novo Mutations in the Beta-Tubulin Gene TUBB2A Cause Simplified Gyral Patterning and Infantile-Onset Epilepsy

Thomas D. Cushion, Alex R. Paciorkowski, Daniela T. Pilz et al. · The American Journal of Human Genetics · 2014 · 123 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Novel mutations in <i>ATP1A3</i> associated with catastrophic early life epilepsy, episodic prolonged apnea, and postnatal microcephaly

Alex R. Paciorkowski, Sharon S. McDaniel, Laura A. Jansen et al. · Epilepsia · 2015 · 121 citations · Full text

Life Sciences, Neurology, Neuroscience +16

Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly–capillary malformation syndrome

Laura M. McDonell, Ghayda Mirzaa, Diana Alcantara et al. · Nature Genetics · 2013 · 116 citations · Full text

Life Sciences, Genetics, Neuroscience +12