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Alex R Paciorkowski
Alex R Paciorkowski
Assistant Professor of Neurology, Pediatrics & Biomedical Genetics, University of Rochester Medical
Verified email at urmc.rochester.edu - Homepage
Title
Cited by
Cited by
Year
Autism spectrum disorder and epilepsy: disorders with a shared biology
BH Lee, T Smith, AR Paciorkowski
Epilepsy & Behavior 47, 191-201, 2015
1982015
Genetic and biologic classification of infantile spasms
AR Paciorkowski, LL Thio, WB Dobyns
Pediatric neurology 45 (6), 355-367, 2011
1882011
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
1372017
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
1352011
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
1232015
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
1222014
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
1202013
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
1102014
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
1082013
Early brain vulnerability in Wolfram syndrome
T Hershey, HM Lugar, JS Shimony, J Rutlin, JM Koller, DC Perantie, ...
PloS one 7 (7), e40604, 2012
1082012
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
1032011
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
992009
Genetic disorders associated with postnatal microcephaly
LE Seltzer, AR Paciorkowski
American Journal of Medical Genetics Part C: Seminars in Medical Genetics …, 2014
952014
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
842013
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
812014
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
742014
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
712013
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
652012
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
632015
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
602019
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