Alex R. Paciorkowski, M.D.

Alex R. Paciorkowski, M.D.

Contact Information

University of Rochester Medical Center
School of Medicine and Dentistry
601 Elmwood Ave, Box 631
Rochester, NY 14642

Journal Articles

Showing all 40 journal articles available.

2015 Jun
Lee BH, Smith T, Paciorkowski AR. "Autism spectrum disorder and epilepsy: Disorders with a shared biology." Epilepsy & behavior : E&B. 2015 Jun; 47:191-201. Epub 2015 Apr 19.
2015 Apr 2
Hansen J, Snow C, Tuttle E, Ghoneim DH, Yang CS, Spencer A, Gunter SA, Smyser CD, Gurnett CA, Shinawi M, Dobyns WB, Wheless J, Halterman MW, Jansen LA, Paschal BM, Paciorkowski AR. "De novo mutations in SIK1 cause a spectrum of developmental epilepsies." American journal of human genetics. 2015 Apr 2; 96(4):682-90.
2015 Mar 31
Selioutski O, Seltzer LE, Burchfiel J, Paciorkowski AR, Erba G. "Characteristic features of the interictal EEG background in two patients with Malignant Migrating Partial Epilepsy in Infancy (MMPEI)." Journal of clinical neurophysiology : official publication of the American Electroencephalographic Society. 2015 Mar 31; Epub 2015 Mar 31.
2015 Mar
Paciorkowski AR, McDaniel SS, Jansen LA, Tully H, Tuttle E, Ghoneim DH, Tupal S, Gunter SA, Vasta V, Zhang Q, Tran T, Liu YB, Ozelius LJ, Brashear A, Sweadner KJ, Dobyns WB, Hahn S. "Novel mutations in ATP1A3 associated with catastrophic early life epilepsy, episodic prolonged apnea, and postnatal microcephaly." Epilepsia. 2015 Mar; 56(3):422-30. Epub 2015 Feb 05.
Bischoff AN, Reiersen AM, Buttlaire A, Al-Lozi A, Doty T, Marshall BA, Hershey T, . "Selective cognitive and psychiatric manifestations in Wolfram Syndrome." Orphanet journal of rare diseases. 2015 10:66. Epub 2015 May 30.
2014 Oct
Hoekel J, Chisholm SA, Al-Lozi A, Hershey T, Tychsen L, . "Ophthalmologic correlates of disease severity in children and adolescents with Wolfram syndrome." Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus. 2014 Oct; 18(5):461-465.e1. Epub 2014 Oct 21.
2014 Aug
Mirzaa GM, Vitre B, Carpenter G, Abramowicz I, Gleeson JG, Paciorkowski AR, Cleveland DW, Dobyns WB, O'Driscoll M. "Mutations in CENPE define a novel kinetochore-centromeric mechanism for microcephalic primordial dwarfism." Human genetics. 2014 Aug; 133(8):1023-39. Epub 2014 Apr 20.
2014 Aug
Seltzer LE, Ma M, Ahmed S, Bertrand M, Dobyns WB, Wheless J, Paciorkowski AR. "Epilepsy and outcome in FOXG1-related disorders." Epilepsia. 2014 Aug; 55(8):1292-300. Epub 2014 May 16.
2014 Jun
Mirzaa GM, Millen KJ, Barkovich AJ, Dobyns WB, Paciorkowski AR. "The Developmental Brain Disorders Database (DBDB): a curated neurogenetics knowledge base with clinical and research applications." American journal of medical genetics. Part A. 2014 Jun; 164A(6):1503-11. Epub 2014 Apr 03.
2014 Jun
Seltzer LE, Paciorkowski AR. "Genetic disorders associated with postnatal microcephaly." American journal of medical genetics. Part C, Seminars in medical genetics. 2014 Jun; 166C(2):140-55. Epub 2014 May 16.
2014 Jun
Mirzaa GM, Paciorkowski AR. "Introduction: Brain malformations." American journal of medical genetics. Part C, Seminars in medical genetics. 2014 Jun; 166C(2):117-23. Epub 2014 May 22.
2014 May
Paciorkowski AR, Weisenberg J, Kelley JB, Spencer A, Tuttle E, Ghoneim D, Thio LL, Christian SL, Dobyns WB, Paschal BM. "Autosomal recessive mutations in nuclear transport factor KPNA7 are associated with infantile spasms and cerebellar malformation." European journal of human genetics : EJHG. 2014 May; 22(5):587-93. Epub 2013 Sep 18.
2014 Apr 3
Cushion TD, Paciorkowski AR, Pilz DT, Mullins JG, Seltzer LE, Marion RW, Tuttle E, Ghoneim D, Christian SL, Chung SK, Rees MI, Dobyns WB. "De novo mutations in the beta-tubulin gene TUBB2A cause simplified gyral patterning and infantile-onset epilepsy." American journal of human genetics. 2014 Apr 3; 94(4):634-41.
Ghoneim DH, Myers JR, Tuttle E, Paciorkowski AR. "Comparison of insertion/deletion calling algorithms on human next-generation sequencing data." BMC research notes. 2014 7:864. Epub 2014 Dec 01.
Dubchak I, Balasubramanian S, Wang S, Meyden C, Sulakhe D, Poliakov A, Börnigen D, Xie B, Taylor A, Ma J, Paciorkowski AR, Mirzaa GM, Dave P, Agam G, Xu J, Al-Gazali L, Mason CE, Ross ME, Maltsev N, Gilliam TC. "An integrative computational approach for prioritization of genomic variants." PloS one. 2014 9(12):e114903. Epub 2014 Dec 15.
2013 Jul
Paciorkowski AR, Keppler-Noreuil K, Robinson L, Sullivan C, Sajan S, Christian SL, Bukshpun P, Gabriel SB, Gleeson JG, Sherr EH, Dobyns WB. "Deletion 16p13.11 uncovers NDE1 mutations on the non-deleted homolog and extends the spectrum of severe microcephaly to include fetal brain disruption." American journal of medical genetics. Part A. 2013 Jul; 161A(7):1523-30. Epub 2013 May 23.
2013 May
Paciorkowski AR, Traylor RN, Rosenfeld JA, Hoover JM, Harris CJ, Winter S, Lacassie Y, Bialer M, Lamb AN, Schultz RA, Berry-Kravis E, Porter BE, Falk M, Venkat A, Vanzo RJ, Cohen JS, Fatemi A, Dobyns WB, Shaffer LG, Ballif BC, Marsh ED. "MEF2C Haploinsufficiency features consistent hyperkinesis, variable epilepsy, and has a role in dorsal and ventral neuronal developmental pathways." Neurogenetics. 2013 May; 14(2):99-111. Epub 2013 Feb 07.
2013 May
McDonell LM, Mirzaa GM, Alcantara D, Schwartzentruber J, Carter MT, Lee LJ, Clericuzio CL, Graham JM, Morris-Rosendahl DJ, Polster T, Acsadi G, Townshend S, Williams S, Halbert A, Isidor B, David A, Smyser CD, Paciorkowski AR, Willing M, Woulfe J, Das S, Beaulieu CL, Marcadier J, , Geraghty MT, Frey BJ, Majewski J, Bulman DE, Dobyns WB, O'Driscoll M, Boycott KM. "Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly-capillary malformation syndrome." Nature genetics. 2013 May; 45(5):556-62. Epub 2013 Mar 31.
2013 May
Mirzaa GM, Paciorkowski AR, Marsh ED, Berry-Kravis EM, Medne L, Grix A, Wirrell EC, Powell BR, Nickels KC, Burton B, Paras A, Kim K, Chung W, Dobyns WB, Das S. "CDKL5 and ARX mutations in males with early-onset epilepsy." Pediatric neurology. 2013 May; 48(5):367-77.
2013 Jan 29
Paciorkowski AR, Darras BT. "Making sense of genetic heterogeneity: Emergence of pathways in developmental brain disorders." Neurology. 2013 Jan 29; 80(5):426-7. Epub 2013 Jan 02.
Marshall BA, Permutt MA, Paciorkowski AR, Hoekel J, Karzon R, Wasson J, Viehover A, White NH, Shimony JS, Manwaring L, Austin P, Hullar TE, Hershey T, The Washington University Wolfram Study Group W. "Phenotypic characteristics of early Wolfram syndrome." Orphanet journal of rare diseases. 2013 8:64. Epub 2013 Apr 27.
Sajan SA, Fernandez L, Nieh SE, Rider E, Bukshpun P, Wakahiro M, Christian SL, Rivière JB, Sullivan CT, Sudi J, Herriges MJ, Paciorkowski AR, Barkovich AJ, Glessner JT, Millen KJ, Hakonarson H, Dobyns WB, Sherr EH. "Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria." PLoS genetics. 2013 9(10):e1003823. Epub 2013 Oct 03.
2012 Jul
Pickett KA, Duncan RP, Paciorkowski AR, Permutt MA, Marshall B, Hershey T, Earhart GM, . "Balance impairment in individuals with Wolfram syndrome." Gait & posture. 2012 Jul; 36(3):619-24. Epub 2012 Jul 06.
2012 Feb
Rosenfeld JA, Amrom D, Andermann E, Andermann F, Veilleux M, Curry C, Fisher J, Deputy S, Aylsworth AS, Powell CM, Manickam K, Heese B, Maisenbacher M, Stevens C, Ellison JW, Upton S, Moeschler J, Torres-Martinez W, Stevens A, Marion R, Pereira EM, Babcock M, Morrow B, Sahoo T, Lamb AN, Ballif BC, Paciorkowski AR, Shaffer LG. "Genotype-phenotype correlation in interstitial 6q deletions: a report of 12 new cases." Neurogenetics. 2012 Feb; 13(1):31-47. Epub 2012 Jan 05.
2012 Jan
Stankiewicz P, Kulkarni S, Dharmadhikari AV, Sampath S, Bhatt SS, Shaikh TH, Xia Z, Pursley AN, Cooper ML, Shinawi M, Paciorkowski AR, Grange DK, Noetzel MJ, Saunders S, Simons P, Summar M, Lee B, Scaglia F, Fellmann F, Martinet D, Beckmann JS, Asamoah A, Platky K, Sparks S, Martin AS, Madan-Khetarpal S, Hoover J, Medne L, Bonnemann CG, Moeschler JB, Vallee SE, Parikh S, Irwin P, Dalzell VP, Smith WE, Banks VC, Flannery DB, Lovell CM, Bellus GA, Golden-Grant K, Gorski JL, Kussmann JL, McGregor TL, Hamid R, Pfotenhauer J, Ballif BC, Shaw CA, Kang SH, Bacino CA, Patel A, Rosenfeld JA, Cheung SW, Shaffer LG. "Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats." Human mutation. 2012 Jan; 33(1):165-79. Epub 2011 Nov 02.
Hucthagowder V, Liu TC, Paciorkowski AR, Thio LL, Keller MS, Anderson CD, Herman T, Dehner LP, Grange DK, Kulkarni S. "Chromosome 2p15p16.1 microdeletion syndrome: 2.5 Mb deletion in a patient with renal anomalies, intractable seizures and a choledochal cyst." European journal of medical genetics. 2012 55(8-9):485-9. Epub 2012 Apr 22.
Hershey T, Lugar HM, Shimony JS, Rutlin J, Koller JM, Perantie DC, Paciorkowski AR, Eisenstein SA, Permutt MA, . "Early brain vulnerability in Wolfram syndrome." PloS one. 2012 7(7):e40604. Epub 2012 Jul 11.
Nguyen C, Foster ER, Paciorkowski AR, Viehoever A, Considine C, Bondurant A, Marshall BA, Hershey T. "Reliability and validity of the Wolfram Unified Rating Scale (WURS)." Orphanet journal of rare diseases. 2012 7:89. Epub 2012 Nov 14.
2011 Sep 15
Lukashin I, Novichkov P, Boffelli D, Paciorkowski AR, Minovitsky S, Yang S, Dubchak I. "VISTA Region Viewer (RViewer)--a computational system for prioritizing genomic intervals for biomedical studies." Bioinformatics. 2011 Sep 15; 27(18):2595-7. Epub 2011 Jul 26.
2011 Sep 13
Paciorkowski AR, Shafrir Y, Hrivnak J, Patterson MC, Tennison MB, Clark HB, Gomez CM. "Massive expansion of SCA2 with autonomic dysfunction, retinitis pigmentosa, and infantile spasms." Neurology. 2011 Sep 13; 77(11):1055-60. Epub 2011 Aug 31.
2011 Sep
Mirzaa GM, Paciorkowski AR, Smyser CD, Willing MC, Lind AC, Dobyns WB. "The microcephaly-capillary malformation syndrome." American journal of medical genetics. Part A. 2011 Sep; 155A(9):2080-7. Epub 2011 Aug 03.
2011 Jan
Brunetti-Pierri N, Paciorkowski AR, Ciccone R, Della Mina E, Bonaglia MC, Borgatti R, Schaaf CP, Sutton VR, Xia Z, Jelluma N, Ruivenkamp C, Bertrand M, de Ravel TJ, Jayakar P, Belli S, Rocchetti K, Pantaleoni C, D'Arrigo S, Hughes J, Cheung SW, Zuffardi O, Stankiewicz P. "Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairment." European journal of human genetics : EJHG. 2011 Jan; 19(1):102-7. Epub 2010 Aug 25.
Paciorkowski AR, Thio LL, Rosenfeld JA, Gajecka M, Gurnett CA, Kulkarni S, Chung WK, Marsh ED, Gentile M, Reggin JD, Wheless JW, Balasubramanian S, Kumar R, Christian SL, Marini C, Guerrini R, Maltsev N, Shaffer LG, Dobyns WB. "Copy number variants and infantile spasms: evidence for abnormalities in ventral forebrain development and pathways of synaptic function." European journal of human genetics : EJHG. 2011 19(12):1238-45. Epub 2011 Jun 22.
Paciorkowski AR, Thio LL, Dobyns WB. "Genetic and biologic classification of infantile spasms." Pediatric neurology. 2011 45(6):355-67.
2009 Mar 24
Klawiter EC, Alvarez E, Xu J, Paciorkowski AR, Zhu L, Parks BJ, Cross AH, Naismith RT. "NMO-IgG detected in CSF in seronegative neuromyelitis optica." Neurology. 2009 Mar 24; 72(12):1101-3.
Paciorkowski AR, Fang M. "Chromosomal microarray interpretation: what is a child neurologist to do?" Pediatric neurology. 2009 41(6):391-8.
2008 Apr
Paciorkowski AR, Sathe S, Zeng BJ, Torres P, Rosengren SS, Kolodny E. "Juvenile-onset G(M2)-gangliosidosis in an African-American child with nystagmus." Pediatric neurology. 2008 Apr; 38(4):284-6.
2008 Jan
Paciorkowski AR, Westwell M, Ounpuu S, Bell K, Kagan J, Mazzarella C, Greenstein RM. "Motion analysis of a child with Niemann-Pick disease type C treated with miglustat." Movement disorders : official journal of the Movement Disorder Society. 2008 Jan; 23(1):124-8.
2007 Jul
Paciorkowski AR, Greenstein RM. "When is enlargement of the subarachnoid spaces not benign? A genetic perspective." Pediatric neurology. 2007 Jul; 37(1):1-7.
2002 Jun
Paciorkowski AR, Lerer T, Brunquell PJ. "Structure-function correlations in patients with malformations of cortical development." Epilepsy & behavior : E&B. 2002 Jun; 3(3):266-274.