Alexander Paciorkowski
| Title | Senior Instructor |
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| Institution | School of Medicine and Dentistry |
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| Department | Neurology |
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| Title | Senior Instructor |
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| Institution | School of Medicine and Dentistry |
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| Department | Pediatrics |
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| Title | Senior Instructor |
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| Institution | School of Medicine and Dentistry |
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| Department | Biomedical Genetics |
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| Title | Senior Instructor |
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| Institution | University of Rochester Medical Center |
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| Department | Center for Pediatric Biomedical Research |
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| 2001 |
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| Outstanding Intern in Pediatrics | University of Connecticut School of Medicine | | 2004 |
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| Fellow, American Academy of Pediatrics | | 2008 |
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| Resident of the Year Award for Teaching | Washington University School of Medicine | | 2009 |
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| Resident of the Year Award for Teaching | Washington University School of Medicine | | 2009 |
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| Fellow, American College of Medical Genetics | | 2010 |
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| Berg Research Prize in Neurology | Washington University School of Medicine | | 2012 |
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| Logan Infantile Spasms Award | Child Neurology Foundation | | 2013 |
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| K08 Award | NIH / NINDS |
The Paciorkowski Lab research program is focused on the discovery of genes involved in childhood neurologic disorders, and how those genes affect brain development. Currently, the lab is working on next-generation sequencing approaches to gene discovery in severe pediatric epilepsies such as infantile spasms. We are also studying complex developmental disorders where autistic features, intellectual disability, epilepsy, and movement disorders overlap. A key part of our research program is the creation of new bioinformatics tools to analyze and integrate data.
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Paciorkowski AR, Darras BT. Making sense of genetic heterogeneity: Emergence of pathways in developmental brain disorders. Neurology. 2013 Jan 29; 80(5):426-7.
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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 J Rare Dis. 2012; 7:89.
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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.
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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.
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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. Eur J Med Genet. 2012 Aug; 55(8-9):485-9.
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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.
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Paciorkowski AR, Thio LL, Dobyns WB. Genetic and biologic classification of infantile spasms. Pediatr Neurol. 2011 Dec; 45(6):355-67.
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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. Hum Mutat. 2012 Jan; 33(1):165-79.
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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.
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Mirzaa GM, Paciorkowski AR, Smyser CD, Willing MC, Lind AC, Dobyns WB. The microcephaly-capillary malformation syndrome. Am J Med Genet A. 2011 Sep; 155A(9):2080-7.
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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.
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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. Eur J Hum Genet. 2011 Dec; 19(12):1238-45.
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Brunetti-Pierri N, Paciorkowski AR, Ciccone R, Mina ED, 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. Eur J Hum Genet. 2011 Jan; 19(1):102-7.
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Paciorkowski AR, Fang M. Chromosomal microarray interpretation: what is a child neurologist to do? Pediatr Neurol. 2009 Dec; 41(6):391-8.
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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.
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Paciorkowski AR, Sathe S, Zeng BJ, Torres P, Rosengren SS, Kolodny E. Juvenile-onset G(M2)-gangliosidosis in an African-American child with nystagmus. Pediatr Neurol. 2008 Apr; 38(4):284-6.
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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. Mov Disord. 2008 Jan; 23(1):124-8.
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Paciorkowski AR, Greenstein RM. When is enlargement of the subarachnoid spaces not benign? A genetic perspective. Pediatr Neurol. 2007 Jul; 37(1):1-7.
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Paciorkowski A, Dai WW, Cerami A, Berger BJ. Synergism of cimetidine with anti-malarial agents. J Parasitol. 1997 Oct; 83(5):960-3.
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Berger BJ, Paciorkowski A, Suskin M, Dai WW, Cerami A, Ulrich P. Antimalarial activity of novel arylene bis(methylketone) compounds. J Infect Dis. 1996 Sep; 174(3):659-62.
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