| Autism spectrum disorder and epilepsy: disorders with a shared biology BH Lee, T Smith, AR Paciorkowski Epilepsy & Behavior 47, 191-201, 2015 | 204 | 2015 |
| Genetic and biologic classification of infantile spasms AR Paciorkowski, LL Thio, WB Dobyns Pediatric neurology 45 (6), 355-367, 2011 | 189 | 2011 |
| Genetics and genotype–phenotype correlations in early onset epileptic encephalopathy with burst suppression HE Olson, MK Kelly, CM LaCoursiere, R Pinsky, D Tambunan, C Shain, ... Annals of neurology 81 (3), 419-429, 2017 | 147 | 2017 |
| Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairment N Brunetti-Pierri, AR Paciorkowski, R Ciccone, ED Mina, MC Bonaglia, ... European Journal of Human Genetics 19 (1), 102-107, 2011 | 138 | 2011 |
| De novo mutations in the beta-tubulin gene TUBB2A cause simplified gyral patterning and infantile-onset epilepsy TD Cushion, AR Paciorkowski, DT Pilz, JGL Mullins, LE Seltzer, ... The American Journal of Human Genetics 94 (4), 634-641, 2014 | 127 | 2014 |
| Novel mutations in ATP1A3 associated with catastrophic early life epilepsy, episodic prolonged apnea, and postnatal microcephaly AR Paciorkowski, SS McDaniel, LA Jansen, H Tully, E Tuttle, ... Epilepsia 56 (3), 422-430, 2015 | 125 | 2015 |
| Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly–capillary malformation syndrome LM McDonell, GM Mirzaa, D Alcantara, J Schwartzentruber, MT Carter, ... Nature genetics 45 (5), 556-562, 2013 | 124 | 2013 |
| MEF2C Haploinsufficiency features consistent hyperkinesis, variable epilepsy, and has a role in dorsal and ventral neuronal developmental pathways AR Paciorkowski, RN Traylor, JA Rosenfeld, JM Hoover, CJ Harris, ... neurogenetics 14, 99-111, 2013 | 116 | 2013 |
| Mutations in CENPE define a novel kinetochore-centromeric mechanism for microcephalic primordial dwarfism GM Mirzaa, B Vitre, G Carpenter, I Abramowicz, JG Gleeson, ... Human genetics 133, 1023-1039, 2014 | 115 | 2014 |
| Early brain vulnerability in Wolfram syndrome T Hershey, HM Lugar, JS Shimony, J Rutlin, JM Koller, DC Perantie, ... PloS one 7 (7), e40604, 2012 | 114 | 2012 |
| Copy number variants and infantile spasms: evidence for abnormalities in ventral forebrain development and pathways of synaptic function AR Paciorkowski, LL Thio, JA Rosenfeld, M Gajecka, CA Gurnett, ... European Journal of Human Genetics 19 (12), 1238-1245, 2011 | 104 | 2011 |
| NMO-IgG detected in CSF in seronegative neuromyelitis optica EC Klawiter, E Alvarez III, J Xu, AR Paciorkowski, L Zhu, BJ Parks, ... Neurology 72 (12), 1101-1103, 2009 | 99 | 2009 |
| Genetic disorders associated with postnatal microcephaly LE Seltzer, AR Paciorkowski American Journal of Medical Genetics Part C: Seminars in Medical Genetics …, 2014 | 96 | 2014 |
| Deletion 16p13.11 uncovers NDE1 mutations on the non‐deleted homolog and extends the spectrum of severe microcephaly to include fetal brain disruption AR Paciorkowski, K Keppler‐Noreuil, L Robinson, C Sullivan, S Sajan, ... American journal of medical genetics Part A 161 (7), 1523-1530, 2013 | 87 | 2013 |
| Epilepsy and outcome in FOXG1‐related disorders LE Seltzer, M Ma, S Ahmed, M Bertrand, WB Dobyns, J Wheless, ... Epilepsia 55 (8), 1292-1300, 2014 | 84 | 2014 |
| Comparison of insertion/deletion calling algorithms on human next-generation sequencing data DH Ghoneim, JR Myers, E Tuttle, AR Paciorkowski BMC research notes 7, 1-10, 2014 | 74 | 2014 |
| CDKL5 and ARX mutations in males with early-onset epilepsy GM Mirzaa, AR Paciorkowski, ED Marsh, EM Berry-Kravis, L Medne, ... Pediatric neurology 48 (5), 367-377, 2013 | 74 | 2013 |
| De novo mutations in SIK1 cause a spectrum of developmental epilepsies J Hansen, C Snow, E Tuttle, DH Ghoneim, CS Yang, A Spencer, ... The American Journal of Human Genetics 96 (4), 682-690, 2015 | 69 | 2015 |
| Genotype–phenotype correlation in interstitial 6q deletions: a report of 12 new cases JA Rosenfeld, D Amrom, E Andermann, F Andermann, M Veilleux, ... Neurogenetics 13, 31-47, 2012 | 66 | 2012 |
| Bi-allelic loss-of-function CACNA1B mutations in progressive epilepsy-dyskinesia KM Gorman, E Meyer, D Grozeva, E Spinelli, A McTague, A Sanchis-Juan, ... The American Journal of Human Genetics 104 (5), 948-956, 2019 | 62 | 2019 |
