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 · 187 citations · Full text

Developmental Biology, Mendelian Disorder, Severe Speech Impairment +10

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 · 139 citations · Full text

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 · 119 citations · Full text

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 · 119 citations · Full text

Developmental Biology, Molecular Neuroscience, Genetics +7

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

Developmental Biology, Pathogenesis, Vascular Malformation +4