My overall career goal is to help improve the care of children with neurologic disability. Early in my training I decided to focus on neurogenetics, as many causes of neurologic disorders in childhood have a genetic basis. After completion of my pediatrics and medical genetics training at the University of Connecticut, I trained in child neurology at Washington University in St. Louis. I see patients at the University of Rochester as part of the Neurogenetics Consultation Service, the Hereditary Ataxia Program, and the Neurofibromatosis Program.

I am interested in improving access to child neurology care in settings with limited resources, and have participated in clinical and educational projects in Latin America and sub-Saharan Africa.

Certified Specialties

Clinical Genetics and Genomics (MD) - American Board of Medical Genetics

Neurology with Special Qualification in Child Neurology - American Board of Psychiatry & Neurology

Faculty Appointments

Associate Professor - Department of Neurology, Child Neurology (SMD)

Associate Professor - Department of Biomedical Genetics (SMD) - Joint

Associate Professor - Department of Neuroscience (SMD) - Joint

Associate Professor - Department of Pediatrics (SMD) - Joint

Credentials

Residency & Fellowship

Fellowship, Pediatric Neurology, St. Louis University Nephrology Fellowship Program. 2007 - 2010

Residency, Medical Genetics, University of Connecticut Health Center. 2005 - 2007

Residency, Pediatrics, University of Connecticut School of Medicine. 2001 - 2003

Internship, Pediatrics, University of Connecticut School of Medicine. 2000 - 2001

Education

MD | University of Connecticut School of Medicine. 2000

Awards

Derek Denny-Brown Young Neurological Scholar Award. 2016

Kayden R. Vinson Distinguished Scholar Award. 2014

K08 Award. 2013 - 2018

Logan Infantile Spasms Award. 2012

Berg Research Prize in Neurology. 2010

Resident of the Year Award for Teaching. 2009

Fellow, American College of Medical Genetics. 2009

Resident of the Year Award for Teaching. 2008

Fellow, American Academy of Pediatrics. 2004

Outstanding Intern in Pediatrics. 2001

Research

Our current collaborative research work studies the economic outcomes of families raising children with neurologic disabilities. I also have ongoing projects to create new bioinformatics tools analyzing and integrating massively parallel sequencing and clinical data.

Clinical Trials

Intellectual & Developmental Disabilities Research Center Contact Registry

Lead Researcher: Alexander R Paciorkowski

The University of Rochester's Intellectual & Developmental Disabilities Research Center (IDDRC) is creating a research study contact database for those with intellectual and developmental disabilities (IDDs). This will help keep people with IDDs, and...

Publications

Journal Articles

Genotype-Phenotype Correlations and Sex Differences in ZC4H2-Associated Rare Disorder.

Peters S, Sportiello K, Mandalapu S, Nguyen A, Carrier R, Dickinson C, Paciorkowski A, Bearden D

Pediatric neurology.. 2024 September 158 :100-112. Epub 06/24/2024.

Clinical and functional consequences of GRIA variants in patients with neurological diseases.

XiangWei W, Perszyk RE, Liu N, Xu Y, Bhattacharya S, Shaulsky GH, Smith-Hicks C, Fatemi A, Fry AE, Chandler K, Wang T, Vogt J, Cohen JS, Paciorkowski AR, Poduri A, Zhang Y, Wang S, Wang Y, Zhai Q, Fang F, Leng J, Garber K, Myers SJ, Jauss RT, Park KL, Benke TA, Lemke JR, Yuan H, Jiang Y, Traynelis SF

Cellular and molecular life sciences : CMLS.. 2023 November 380 (11):345. Epub 11/03/2023.

Metabolic syndrome is associated with similar long-term prognosis in those living with and without obesity: an analysis of 45 615 patients from the nationwide LIPIDOGRAM 2004-2015 studies.

Osadnik K, Osadnik T, Gierlotka M, Windak A, Tomasik T, Mastej M, Kuras A, Jó?wiak K, Penson PE, Lip GYH, Mikhailidis DP, Toth PP, Catapano AL, Ray KK, Howard G, Tomaszewski M, Charchar FJ, Sattar N, Williams B, MacDonald TM, Banach M, Jó?wiak J,

European journal of preventive cardiology.. 2023 September 630 (12):1195-1204. Epub 1900 01 01.

Baseline Clinical and Blood Biomarkers in Patients With Preataxic and Early-Stage Disease Spinocerebellar Ataxia 1 and 3.

Tezenas du Montcel S, Petit E, Olubajo T, Faber J, Lallemant-Dudek P, Bushara K, Perlman S, Subramony SH, Morgan D, Jackman B, Figueroa KP, Pulst SM, Fauret-Amsellem AL, Dufke C, Paulson HL, Öz G, Klockgether T, Durr A, Ashizawa T,

Neurology.. 2023 April 25100 (17):e1836-e1848. Epub 02/16/2023.

Mendelian etiologies identified with whole exome sequencing in cerebral palsy.

Chopra M, Gable DL, Love-Nichols J, Tsao A, Rockowitz S, Sliz P, Barkoudah E, Bastianelli L, Coulter D, Davidson E, DeGusmao C, Fogelman D, Huth K, Marshall P, Nimec D, Sanders JS, Shore BJ, Snyder B, Stone SSD, Ubeda A, Watkins C, Berde C, Bolton J, Brownstein C, Costigan M, Ebrahimi-Fakhari D, Lai A, O'Donnell-Luria A, Paciorkowski AR, Pinto A, Pugh J, Rodan L, Roe E, Swanson L, Zhang B, Kruer MC, Sahin M, Poduri A, Srivastava S

Annals of clinical and translational neurology.. 2022 February 9 (2):193-205. Epub 01/24/2022.

Socioeconomic Status and Cognitive Function in Children With HIV: Evidence From the HIV-Associated Neurocognitive Disorders in Zambia (HANDZ) Study.

Mbewe EG, Kabundula PP, Mwanza-Kabaghe S, Buda A, Adams HR, Schneider C, Potchen MJ, Mweemba M, Mathews M, Menon JA, Wang B, Baseler T, Paciorkowski A, Birbeck GL, Bearden DR

Journal of acquired immune deficiency syndromes : JAIDS.. 2022 January 189 (1):56-63. Epub 1900 01 01.

A diagnostic confidence scheme for CLN3 disease.

Masten MC, Corre C, Paciorkowski AR, Vierhile A, Adams HR, Vermilion J, Zimmerman GA, Augustine EF, Mink JW

Journal of inherited metabolic disease.. 2021 November 44 (6):1453-1462. Epub 09/07/2021.

Movement disorders in children with congenital Zika virus syndrome.

van der Linden H, Silveira-Moriyama L, van der Linden V, Pessoa A, Valente K, Mink J, Paciorkowski A

Brain & development.. 2020 November 42 (10):720-729. Epub 07/16/2020.

Congenital Zika Virus Infection: a Review with Emphasis on the Spectrum of Brain Abnormalities.

Vhp L, Aragão MM, Pinho RS, Hazin AN, Paciorkowski AR, Penalva de Oliveira AC, Masruha MR

Current neurology and neuroscience reports.. 2020 September 320 (11):49. Epub 09/03/2020.

Diagnosis of FOXG1 syndrome caused by recurrent balanced chromosomal rearrangements: case study and literature review.

Craig CP, Calamaro E, Fong CT, Iqbal AM, Paciorkowski AR, Zhang B

Molecular cytogenetics.. 2020 September 313 (1):40. Epub 09/03/2020.

Kinesigenic Triggers in Episodic Ataxia Type 1.

de Gusmao CM, Garcia LR, Jesuthasan A, Muir M, Paciorkowski A, Mink JW, Silveira-Moriyama L

Movement disorders clinical practice.. 2020 August 7 (6):723-724. Epub 07/19/2020.

Autosomal dominant mitochondrial membrane protein-associated neurodegeneration (MPAN).

Gregory A, Lotia M, Jeong SY, Fox R, Zhen D, Sanford L, Hamada J, Jahic A, Beetz C, Freed A, Kurian MA, Cullup T, van der, Nguyen V, Setthavongsack N, Garcia D, Krajbich V, Pham T, Woltjer R, George BP, Minks KQ, Paciorkowski AR, Hogarth P, Jankovic J, Hayflick SJ

Molecular genetics & genomic medicine.. 2019 July 7 (7):e00736. Epub 05/13/2019.

Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia.

Gorman KM, Meyer E, Grozeva D, Spinelli E, McTague A, Sanchis-Juan A, Carss KJ, Bryant E, Reich A, Schneider AL, Pressler RM, Simpson MA, Debelle GD, Wassmer E, Morton J, Sieciechowicz D, Jan-Kamsteeg E, Paciorkowski AR, King MD, Cross JH, Poduri A, Mefford HC, Scheffer IE, Haack TB, McCullagh G, , , , Millichap JJ, Carvill GL, Clayton-Smith J, Maher ER, Raymond FL, Kurian MA

American journal of human genetics.. 2019 May 2104 (5):948-956. Epub 04/11/2019.

BioVR: a platform for virtual reality assisted biological data integration and visualization.

Zhang JF, Paciorkowski AR, Craig PA, Cui F

BMC bioinformatics.. 2019 February 1520 (1):78. Epub 02/15/2019.

Association of Severe Hydrocephalus With Congenital Zika Syndrome.

van der Linden V, de Lima Petribu NC, Pessoa A, Faquini I, Paciorkowski AR, van der Linden H, Silveira-Moriyama L, Cordeiro MT, Hazin AN, Barkovich AJ, Raybaud C, de Brito Abath M, Ribeiro E, Barros Jucá CE, Vasco Aragão MFV, Coelho Travassos PT, Jungmann P

JAMA neurology.. 2019 February 176 (2):203-210. Epub 1900 01 01.

Mutations in MAST1 Cause Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations.

Tripathy R, Leca I, van Dijk T, Weiss J, van Bon BW, Sergaki MC, Gstrein T, Breuss M, Tian G, Bahi-Buisson N, Paciorkowski AR, Pagnamenta AT, Wenninger-Weinzierl A, Martinez-Reza MF, Landler L, Lise S, Taylor JC, Terrone G, Vitiello G, Del Giudice E, Brunetti-Pierri N, D'Amico A, Reymond A, Voisin N, Bernstein JA, Farrelly E, Kini U, Leonard TA, Valence S, Burglen L, Armstrong L, Hiatt SM, Cooper GM, Aldinger KA, Dobyns WB, Mirzaa G, Pierson TM, Baas F, Chelly J, Cowan NJ, Keays DA

Neuron.. 2018 December 19100 (6):1354-1368.e5. Epub 11/15/2018.

Nuclear transglutaminase 2 directly regulates expression of cathepsin S in rat cortical neurons.

Ji C, Tang M, Harrison J, Paciorkowski A, Johnson GV

The European journal of neuroscience.. 2018 November 48 (9):3043-3051. Epub 10/06/2018.

Phenotypes, genotypes, and the management of paroxysmal movement disorders.

Silveira-Moriyama L, Kovac S, Kurian MA, Houlden H, Lees AJ, Walker MC, Roze E, Paciorkowski AR, Mink JW, Warner TT

Developmental medicine and child neurology.. 2018 June 60 (6):559-565. Epub 03/30/2018.

Genetic Diagnostics for Neurologists.

Silveira-Moriyama L, Paciorkowski AR

Continuum : lifelong learning in neurology.. 2018 February 24 (1, Child Neurology):18-36. Epub 1900 01 01.

Ode to the humble Southern blot in the era of exomes.

Paciorkowski AR

Neurology. Clinical practice.. 2018 February 8 (1):4-5. Epub 1900 01 01.

Expanding the neurodevelopmental phenotype of PURA syndrome.

Lee BH, Reijnders MRF, Abubakare O, Tuttle E, Lape B, Minks KQ, Stodgell C, Bennetto L, Kwon J, Fong CT, Gripp KW, Marsh ED, Smith WE, Huq AM, Coury SA, Tan WH, Solis O, Mehta RI, Leventer RJ, Baralle D, Hunt D, Paciorkowski AR

American journal of medical genetics. Part A.. 2018 January 176 (1):56-67. Epub 11/17/2017.

Depletion of transglutaminase 2 in neurons alters expression of extracellular matrix and signal transduction genes and compromises cell viability.

Yunes-Medina L, Paciorkowski A, Nuzbrokh Y, Johnson GVW

Molecular and cellular neurosciences.. 2018 January 86 :72-80. Epub 11/29/2017.

Developing a novel epileptic discharge localization algorithm for electroencephalogram infantile spasms during hypsarrhythmia.

Traitruengsakul S, Seltzer LE, Paciorkowski AR, Ghoraani B

Medical & biological engineering & computing.. 2017 September 55 (9):1659-1668. Epub 02/09/2017.

Congenital Zika syndrome: an epidemic of neurologic disability.

Paciorkowski AR

Arquivos de neuro-psiquiatria.. 2017 August 75 (8):605. Epub 1900 01 01.

PLXNA1 developmental encephalopathy with syndromic features: A case report and review of the literature.

Park K, Seltzer LE, Tuttle E, Mirzaa GM, Paciorkowski AR

American journal of medical genetics. Part A.. 2017 July 173 (7):1951-1954. Epub 05/02/2017.

India Allele Finder: a web-based annotation tool for identifying common alleles in next-generation sequencing data of Indian origin.

Zhang JF, James F, Shukla A, Girisha KM, Paciorkowski AR

BMC research notes.. 2017 June 2710 (1):233. Epub 06/27/2017.

Neuroimaging findings in Mowat-Wilson syndrome: a study of 54 patients.

Garavelli L, Ivanovski I, Caraffi SG, Santodirocco D, Pollazzon M, Cordelli DM, Abdalla E, Accorsi P, Adam MP, Baldo C, Bayat A, Belligni E, Bonvicini F, Breckpot J, Callewaert B, Cocchi G, Cuturilo G, Devriendt K, Dinulos MB, Djuric O, Epifanio R, Faravelli F, Formisano D, Giordano L, Grasso M, Grønborg S, Iodice A, Iughetti L, Lacombe D, Maggi M, Malbora B, Mammi I, Moutton S, Møller R, Muschke P, Napoli M, Pantaleoni C, Pascarella R, Pellicciari A, Poch-Olive ML, Raviglione F, Rivieri F, Russo C, Savasta S, Scarano G, Selicorni A, Silengo M, Sorge G, Tarani L, Tone LG, Toutain A, Trimouille A, Valera ET, Vergano SS, Zanotta N, Zollino M, Dobyns WB, Paciorkowski AR

Genetics in medicine : official journal of the American College of Medical Genetics.. 2017 June 19 (6):691-700. Epub 11/10/2016.

Genetics and genotype-phenotype correlations in early onset epileptic encephalopathy with burst suppression.

Olson HE, Kelly M, LaCoursiere CM, Pinsky R, Tambunan D, Shain C, Ramgopal S, Takeoka M, Libenson MH, Julich K, Loddenkemper T, Marsh ED, Segal D, Koh S, Salman MS, Paciorkowski AR, Yang E, Bergin AM, Sheidley BR, Poduri A

Annals of neurology.. 2017 March 81 (3):419-429. Epub 02/14/2017.

Epilepsy-causing sequence variations in SIK1 disrupt synaptic activity response gene expression and affect neuronal morphology.

Pröschel C, Hansen JN, Ali A, Tuttle E, Lacagnina M, Buscaglia G, Halterman MW, Paciorkowski AR

European journal of human genetics : EJHG.. 2017 February 25 (2):216-221. Epub 12/14/2016.

CEDNIK: Phenotypic and Molecular Characterization of an Additional Patient and Review of the Literature.

Hsu T, Coughlin CC, Monaghan KG, Fiala E, McKinstry RC, Paciorkowski AR, Shinawi M

Child neurology open.. 2017 4 :2329048X17733214. Epub 10/08/2017.

Phenotype Differentiation of FOXG1 and MECP2 Disorders: A New Method for Characterization of Developmental Encephalopathies.

Ma M, Adams HR, Seltzer LE, Dobyns WB, Paciorkowski AR

The Journal of pediatrics.. 2016 November 178 :233-240.e10. Epub 09/15/2016.

Delineation of the movement disorders associated with FOXG1 mutations.

Papandreou A, Schneider RB, Augustine EF, Ng J, Mankad K, Meyer E, McTague A, Ngoh A, Hemingway C, Robinson R, Varadkar SM, Kinali M, Salpietro V, O'Driscoll MC, Basheer SN, Webster RI, Mohammad SS, Pula S, McGowan M, Trump N, Jenkins L, Elmslie F, Scott RH, Hurst JA, Perez-Duenas B, Paciorkowski AR, Kurian MA

Neurology.. 2016 May 1086 (19):1794-800. Epub 03/30/2016.

Neuroimaging evidence of deficient axon myelination in Wolfram syndrome.

Lugar HM, Koller JM, Rutlin J, Marshall BA, Kanekura K, Urano F, Bischoff AN, Shimony JS, Hershey T,

Scientific reports.. 2016 February 186 :21167. Epub 02/18/2016.

7q11.23 Duplication syndrome: Physical characteristics and natural history.

Morris CA, Mervis CB, Paciorkowski AP, Abdul-Rahman O, Dugan SL, Rope AF, Bader P, Hendon LG, Velleman SL, Klein-Tasman BP, Osborne LR

American journal of medical genetics. Part A.. 2015 December 167A (12):2916-35. Epub 09/03/2015.

Familial recurrences of FOXG1-related disorder: Evidence for mosaicism.

McMahon KQ, Papandreou A, Ma M, Barry BJ, Mirzaa GM, Dobyns WB, Scott RH, Trump N, Kurian MA, Paciorkowski AR

American journal of medical genetics. Part A.. 2015 December 167A (12):3096-102. Epub 09/14/2015.

Characteristic Features of the Interictal EEG Background in 2 Patients With Malignant Migrating Partial Epilepsy in Infancy.

Selioutski O, Seltzer LE, Burchfiel J, Paciorkowski AR, Erba G

Journal of clinical neurophysiology : official publication of the American Electroencephalographic Society.. 2015 August 32 (4):e23-9. Epub 1900 01 01.

Autism spectrum disorder and epilepsy: Disorders with a shared biology.

Lee BH, Smith T, Paciorkowski AR

Epilepsy & behavior : E&B.. 2015 June 47 :191-201. Epub 04/19/2015.

Selective cognitive and psychiatric manifestations in Wolfram Syndrome.

Bischoff AN, Reiersen AM, Buttlaire A, Al-Lozi A, Doty T, Marshall BA, Hershey T,

Orphanet journal of rare diseases.. 2015 May 3010 :66. Epub 05/30/2015.

De novo mutations in SIK1 cause a spectrum of developmental epilepsies.

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

American journal of human genetics.. 2015 April 296 (4):682-90. Epub 1900 01 01.

Novel mutations in ATP1A3 associated with catastrophic early life epilepsy, episodic prolonged apnea, and postnatal microcephaly.

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

Epilepsia.. 2015 March 56 (3):422-30. Epub 02/05/2015.

Automatic localization of epileptic spikes in eegs of children with infantile spasms.

Traitruengsakul S, Seltzer LE, Paciorkowski AR, Ghoraani B

Annual International Conference of the IEEE Engineering in Medicine and Biology Society.. 2015 2015 :6194-7. Epub 1900 01 01.

Comparison of insertion/deletion calling algorithms on human next-generation sequencing data.

Ghoneim DH, Myers JR, Tuttle E, Paciorkowski AR

BMC research notes.. 2014 December 17 :864. Epub 12/01/2014.

Ophthalmologic correlates of disease severity in children and adolescents with Wolfram syndrome.

Hoekel J, Chisholm SA, Al-Lozi A, Hershey T, Tychsen L,

Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus. 2014 October 18 (5):461-465.e1. Epub 10/21/2014.

Mutations in CENPE define a novel kinetochore-centromeric mechanism for microcephalic primordial dwarfism.

Mirzaa GM, Vitre B, Carpenter G, Abramowicz I, Gleeson JG, Paciorkowski AR, Cleveland DW, Dobyns WB, O'Driscoll M

Human genetics.. 2014 August 133 (8):1023-39. Epub 04/20/2014.

Epilepsy and outcome in FOXG1-related disorders.

Seltzer LE, Ma M, Ahmed S, Bertrand M, Dobyns WB, Wheless J, Paciorkowski AR

Epilepsia.. 2014 August 55 (8):1292-300. Epub 05/16/2014.

The Developmental Brain Disorders Database (DBDB): a curated neurogenetics knowledge base with clinical and research applications.

Mirzaa GM, Millen KJ, Barkovich AJ, Dobyns WB, Paciorkowski AR

American journal of medical genetics. Part A.. 2014 June 164A (6):1503-11. Epub 04/03/2014.

Genetic disorders associated with postnatal microcephaly.

Seltzer LE, Paciorkowski AR

American journal of medical genetics. Part C, Seminars in medical genetics.. 2014 June 166C (2):140-55. Epub 05/16/2014.

Introduction: Brain malformations.

Mirzaa GM, Paciorkowski AR

American journal of medical genetics. Part C, Seminars in medical genetics.. 2014 June 166C (2):117-23. Epub 05/22/2014.

Autosomal recessive mutations in nuclear transport factor KPNA7 are associated with infantile spasms and cerebellar malformation.

Paciorkowski AR, Weisenberg J, Kelley JB, Spencer A, Tuttle E, Ghoneim D, Thio LL, Christian SL, Dobyns WB, Paschal BM

European journal of human genetics : EJHG.. 2014 May 22 (5):587-93. Epub 09/18/2013.

De novo mutations in the beta-tubulin gene TUBB2A cause simplified gyral patterning and infantile-onset epilepsy.

Cushion TD, Paciorkowski AR, Pilz DT, Mullins JG, Seltzer LE, Marion RW, Tuttle E, Ghoneim D, Christian SL, Chung SK, Rees MI, Dobyns WB

American journal of human genetics.. 2014 April 394 (4):634-41. Epub 1900 01 01.

An integrative computational approach for prioritization of genomic variants.

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

PloS one.. 2014 9 (12):e114903. Epub 12/15/2014.

Deletion 16p13.11 uncovers NDE1 mutations on the non-deleted homolog and extends the spectrum of severe microcephaly to include fetal brain disruption.

Paciorkowski AR, Keppler-Noreuil K, Robinson L, Sullivan C, Sajan S, Christian SL, Bukshpun P, Gabriel SB, Gleeson JG, Sherr EH, Dobyns WB

American journal of medical genetics. Part A.. 2013 July 161A (7):1523-30. Epub 05/23/2013.

MEF2C Haploinsufficiency features consistent hyperkinesis, variable epilepsy, and has a role in dorsal and ventral neuronal developmental pathways.

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

Neurogenetics.. 2013 May 14 (2):99-111. Epub 02/07/2013.

Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly-capillary malformation syndrome.

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

Nature genetics.. 2013 May 45 (5):556-62. Epub 03/31/2013.

CDKL5 and ARX mutations in males with early-onset epilepsy.

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

Pediatric neurology.. 2013 May 48 (5):367-77. Epub 1900 01 01.

Phenotypic characteristics of early Wolfram syndrome.

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

Orphanet journal of rare diseases.. 2013 April 278 :64. Epub 04/27/2013.

Making sense of genetic heterogeneity: Emergence of pathways in developmental brain disorders.

Paciorkowski AR, Darras BT

Neurology.. 2013 January 2980 (5):426-7. Epub 01/02/2013.

Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.

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

PLoS genetics.. 2013 9 (10):e1003823. Epub 10/03/2013.

Reliability and validity of the Wolfram Unified Rating Scale (WURS).

Nguyen C, Foster ER, Paciorkowski AR, Viehoever A, Considine C, Bondurant A, Marshall BA, Hershey T

Orphanet journal of rare diseases.. 2012 November 147 :89. Epub 11/14/2012.

Balance impairment in individuals with Wolfram syndrome.

Pickett KA, Duncan RP, Paciorkowski AR, Permutt MA, Marshall B, Hershey T, Earhart GM,

Gait & posture.. 2012 July 36 (3):619-24. Epub 07/06/2012.

Genotype-phenotype correlation in interstitial 6q deletions: a report of 12 new cases.

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

Neurogenetics.. 2012 February 13 (1):31-47. Epub 01/05/2012.

Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats.

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

Human mutation.. 2012 January 33 (1):165-79. Epub 11/02/2011.

Chromosome 2p15p16.1 microdeletion syndrome: 2.5 Mb deletion in a patient with renal anomalies, intractable seizures and a choledochal cyst.

Hucthagowder V, Liu TC, Paciorkowski AR, Thio LL, Keller MS, Anderson CD, Herman T, Dehner LP, Grange DK, Kulkarni S

European journal of medical genetics.. 2012 55 (8-9):485-9. Epub 04/22/2012.

Early brain vulnerability in Wolfram syndrome.

Hershey T, Lugar HM, Shimony JS, Rutlin J, Koller JM, Perantie DC, Paciorkowski AR, Eisenstein SA, Permutt MA,

PloS one.. 2012 7 (7):e40604. Epub 07/11/2012.

Copy number variants and infantile spasms: evidence for abnormalities in ventral forebrain development and pathways of synaptic function.

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

European journal of human genetics : EJHG.. 2011 December 19 (12):1238-45. Epub 06/22/2011.

Genetic and biologic classification of infantile spasms.

Paciorkowski AR, Thio LL, Dobyns WB

Pediatric neurology.. 2011 December 45 (6):355-67. Epub 1900 01 01.

VISTA Region Viewer (RViewer)--a computational system for prioritizing genomic intervals for biomedical studies.

Lukashin I, Novichkov P, Boffelli D, Paciorkowski AR, Minovitsky S, Yang S, Dubchak I

Bioinformatics.. 2011 September 1527 (18):2595-7. Epub 07/26/2011.

Massive expansion of SCA2 with autonomic dysfunction, retinitis pigmentosa, and infantile spasms.

Paciorkowski AR, Shafrir Y, Hrivnak J, Patterson MC, Tennison MB, Clark HB, Gomez CM

Neurology.. 2011 September 1377 (11):1055-60. Epub 08/31/2011.

The microcephaly-capillary malformation syndrome.

Mirzaa GM, Paciorkowski AR, Smyser CD, Willing MC, Lind AC, Dobyns WB

American journal of medical genetics. Part A.. 2011 September 155A (9):2080-7. Epub 08/03/2011.

Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairment.

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

European journal of human genetics : EJHG.. 2011 January 19 (1):102-7. Epub 08/25/2010.

Chromosomal microarray interpretation: what is a child neurologist to do?

Paciorkowski AR, Fang M

Pediatric neurology.. 2009 December 41 (6):391-8. Epub 1900 01 01.

NMO-IgG detected in CSF in seronegative neuromyelitis optica.

Klawiter EC, Alvarez E, Xu J, Paciorkowski AR, Zhu L, Parks BJ, Cross AH, Naismith RT

Neurology.. 2009 March 2472 (12):1101-3. Epub 1900 01 01.

Juvenile-onset G(M2)-gangliosidosis in an African-American child with nystagmus.

Paciorkowski AR, Sathe S, Zeng BJ, Torres P, Rosengren SS, Kolodny E

Pediatric neurology.. 2008 April 38 (4):284-6. Epub 1900 01 01.

Motion analysis of a child with Niemann-Pick disease type C treated with miglustat.

Paciorkowski AR, Westwell M, Ounpuu S, Bell K, Kagan J, Mazzarella C, Greenstein RM

Movement disorders : official journal of the Movement Disorder Society.. 2008 January 23 (1):124-8. Epub 1900 01 01.

When is enlargement of the subarachnoid spaces not benign? A genetic perspective.

Paciorkowski AR, Greenstein RM

Pediatric neurology.. 2007 July 37 (1):1-7. Epub 1900 01 01.

Structure-function correlations in patients with malformations of cortical development.

Paciorkowski AR, Lerer T, Brunquell PJ

Epilepsy & behavior : E&B.. 2002 June 3 (3):266-274. Epub 1900 01 01.

Synergism of cimetidine with anti-malarial agents.

Paciorkowski A, Dai WW, Cerami A, Berger BJ

The Journal of parasitology.. 1997 October 83 (5):960-3. Epub 1900 01 01.

Antimalarial activity of novel arylene bis(methylketone) compounds.

Berger BJ, Paciorkowski A, Suskin M, Dai WW, Cerami A, Ulrich P

The Journal of infectious diseases.. 1996 September 174 (3):659-62. Epub 1900 01 01.

Books

Swaiman's Pediatric Neurology, Principles and Practice. 6th Edition. (2017)

Chapter: Developmental Encephalopathies.

Authors: AR Paciorkowski, LE Seltzer, JL Neul.

Publisher: Elsevier 2017

Swaiman's Pediatric Neurology, Principles and Practice. 6th Edition. (2017)

Chapter: Neurogenetics in the Genome Era.

Authors: K McMahon, AR Paciorkowski, LC Walters-Sen, JM Milunsky, A Bassuk, B Darbro, J Diaz, WB Dobyns, A Gropman.

Publisher: Elsevier 2017

Ratings & Comments

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Ratings

During this visit, did this provider spend enough time with you?

4.8

During this visit, did this provider show respect for what you had to say?

4.7

During this visit did this provider give you easy to understand information about these health questions or concerns?

4.7

During this visit, did this provider listen carefully to you?

4.7

During this visit, did this provider explain things in a way that was easy to understand?

4.7

Patient Comments

5.0

Dr. P is the kindest and most genuine person. We are incredibly grateful for his time and insight while we navigate our diagnosis.

May 10, 2024

5.0

Dr. P. is the most compassionate doctor we've met. He goes above and beyond to explain complex things in an understandable way.

Dec 30, 2022

5.0

He was very thorough, kind and answered all questions

Dec 14, 2022