Alex R Paciorkowski

Alex R Paciorkowski

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Alex R Paciorkowski

Alex R Paciorkowski

Publications by authors named "Alex R Paciorkowski"

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51Publications

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

BMC Bioinformatics 2019 Feb 15;20(1):78. Epub 2019 Feb 15.

Thomas H. Gosnell School of Life Sciences, Rochester Institute of Technology, One Lomb Memorial Drive, Rochester, NY, 14623, USA.

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http://dx.doi.org/10.1186/s12859-019-2666-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6376704PMC
February 2019

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

Dev Med Child Neurol 2018 06 30;60(6):559-565. Epub 2018 Mar 30.

Department of Molecular Neuroscience, Reta Lila Weston Institute of Neurological Studies, UCL Institute of Neurology, London, UK.

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http://dx.doi.org/10.1111/dmcn.13744DOI Listing
June 2018

Genetic Diagnostics for Neurologists.

Continuum (Minneap Minn) 2018 02;24(1, Child Neurology):18-36

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http://dx.doi.org/10.1212/CON.0000000000000556DOI Listing
February 2018

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

Neurol Clin Pract 2018 Feb;8(1):4-5

Departments of Neurology, Pediatrics, Biomedical Genetics, and Neuroscience, Neurogenetics Consultation Service, Hereditary Ataxia Program, Child Neurology, University of Rochester Medical Center, NY.

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http://dx.doi.org/10.1212/CPJ.0000000000000414DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5839687PMC
February 2018

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

Child Neurol Open 2017 Jan-Dec;4:2329048X17733214. Epub 2017 Oct 8.

Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St Louis, MO, USA.

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http://dx.doi.org/10.1177/2329048X17733214DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5638153PMC
October 2017

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

Med Biol Eng Comput 2017 Sep 9;55(9):1659-1668. Epub 2017 Feb 9.

Department of Computer and Electrical Engineering, Florida Atlantic University, 777 Glades Rd, Boca Raton, FL, 33431, USA.

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http://link.springer.com/10.1007/s11517-017-1616-z
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http://dx.doi.org/10.1007/s11517-017-1616-zDOI Listing
September 2017

Congenital Zika syndrome: an epidemic of neurologic disability.

Arq Neuropsiquiatr 2017 08;75(8):605

University of Rochester Medical Center, Neurogenetics Consultation Service, Departments of Neurology, Pediatrics, Biomedical Genetics, and Neuroscience, New York, USA.

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http://dx.doi.org/10.1590/0004-282X20170104DOI Listing
August 2017

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

Am J Med Genet A 2017 Jul 2;173(7):1951-1954. Epub 2017 May 2.

Department of Neurology, University of Rochester Medical Center, Rochester, New York.

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http://dx.doi.org/10.1002/ajmg.a.38236DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5878136PMC
July 2017

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

BMC Res Notes 2017 Jun 27;10(1):233. Epub 2017 Jun 27.

Center for Neurotherapeutics Development, University of Rochester Medical Center, Rochester, NY, USA.

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http://dx.doi.org/10.1186/s13104-017-2556-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5488357PMC
June 2017

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

J Pediatr 2016 Nov 15;178:233-240.e10. Epub 2016 Sep 15.

Department of Neurology, University of Rochester Medical Center, Rochester, NY; Departments of Pediatrics and Biomedical Genetics, University of Rochester Medical Center, Rochester, NY; Center for Neural Development and Disease, University of Rochester Medical Center, Rochester, NY. Electronic address:

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http://dx.doi.org/10.1016/j.jpeds.2016.08.032DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5873956PMC
November 2016

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

Am J Med Genet A 2015 Dec 14;167A(12):3096-102. Epub 2015 Sep 14.

Department of Neurology, University of Rochester Medical Center, Rochester, New York.

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http://dx.doi.org/10.1002/ajmg.a.37353DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4715619PMC
December 2015

An integrative computational approach for prioritization of genomic variants.

PLoS One 2014 15;9(12):e114903. Epub 2014 Dec 15.

Department of Human Genetics, University of Chicago, Chicago, Illinois, United States of America; Computation Institute, University of Chicago/Argonne National Laboratory, Chicago, Illinois, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0114903PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4266634PMC
November 2015

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

J Clin Neurophysiol 2015 Aug;32(4):e23-9

*Department of Neurology, University of Rochester Medical Center, Rochester, New York, U.S.A.; †Strong Epilepsy Center, University of Rochester Medical Center, Rochester, New York, U.S.A.; and ‡Departments of Pediatrics and Biomedical Genetics, Center for Neural Development and Disease, University of Rochester Medical Center, Rochester, New York, U.S.A.

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http://pdfs.journals.lww.com/clinicalneurophys/2015/08000/Ch
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http://content.wkhealth.com/linkback/openurl?sid=WKPTLP:land
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http://dx.doi.org/10.1097/WNP.0000000000000178DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4527937PMC
August 2015

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

Epilepsy Behav 2015 Jun 19;47:191-201. Epub 2015 Apr 19.

Department of Pediatrics, University of Rochester Medical Center, Rochester, NY, USA; Department of Neurology, University of Rochester Medical Center, Rochester, NY, USA; Department of Biomedical Genetics, University of Rochester Medical Center, Rochester, NY, USA; Center for Neural Development and Disease, University of Rochester Medical Center, Rochester, NY, USA. Electronic address:

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http://dx.doi.org/10.1016/j.yebeh.2015.03.017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4475437PMC
June 2015

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

Am J Hum Genet 2015 Apr;96(4):682-90

Center for Neural Development and Disease, University of Rochester Medical Center, Rochester, NY 14642, USA; Department of Neurology, University of Rochester Medical Center, Rochester, NY 14642, USA; Departments of Pediatrics and Biomedical Genetics, University of Rochester Medical Center, Rochester, NY 14642, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2015.02.013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4385182PMC
April 2015

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

Epilepsia 2015 Mar 5;56(3):422-30. Epub 2015 Feb 5.

Departments of Neurology, Pediatrics, and Biomedical Genetics, University of Rochester Medical Center, Rochester, New York, U.S.A; Center for Neural Development and Disease, University of Rochester Medical Center, Rochester, New York, U.S.A.

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http://dx.doi.org/10.1111/epi.12914DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4363281PMC
March 2015

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

BMC Res Notes 2014 Dec 1;7:864. Epub 2014 Dec 1.

Center for Neural Development and Disease, University of Rochester Medical Center, 601 Elmwood Avenue, Rochester, NY, USA.

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http://dx.doi.org/10.1186/1756-0500-7-864DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4265454PMC
December 2014

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

Hum Genet 2014 Aug 20;133(8):1023-39. Epub 2014 Apr 20.

Division of Genetic Medicine, Department of Pediatrics, Center for Integrative Brain Research, Seattle Children's Research Institute, University of Washington, Seattle, WA, USA.

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http://link.springer.com/10.1007/s00439-014-1443-3
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http://dx.doi.org/10.1007/s00439-014-1443-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4415612PMC
August 2014

Epilepsy and outcome in FOXG1-related disorders.

Epilepsia 2014 Aug 16;55(8):1292-300. Epub 2014 May 16.

Department of Neurology, University of Rochester Medical Center, Rochester, New York, U.S.A.

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http://dx.doi.org/10.1111/epi.12648DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4265461PMC
August 2014

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

Am J Med Genet A 2014 Jun 3;164A(6):1503-11. Epub 2014 Apr 3.

Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington.

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http://dx.doi.org/10.1002/ajmg.a.36517DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4279915PMC
June 2014

Genetic disorders associated with postnatal microcephaly.

Am J Med Genet C Semin Med Genet 2014 Jun 16;166C(2):140-55. Epub 2014 May 16.

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http://dx.doi.org/10.1002/ajmg.c.31400DOI Listing
June 2014

Introduction: Brain malformations.

Am J Med Genet C Semin Med Genet 2014 Jun 22;166C(2):117-23. Epub 2014 May 22.

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http://dx.doi.org/10.1002/ajmg.c.31404DOI Listing
June 2014

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

Eur J Hum Genet 2014 May 18;22(5):587-93. Epub 2013 Sep 18.

1] Center for Cell Signaling, University of Virginia, Charlottesville, VA, USA [2] Departments of Biochemistry and Molecular Genetics, University of Virginia, Charlottesville, VA, USA.

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http://dx.doi.org/10.1038/ejhg.2013.196DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3992559PMC
May 2014

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

Am J Hum Genet 2014 Apr;94(4):634-41

Center for Integrative Brain Research, Seattle Children's Hospital, Seattle, WA 98101, USA; Departments of Pediatrics and Neurology, University of Washington, Seattle, WA 98195, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2014.03.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3980418PMC
April 2014

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

Am J Med Genet A 2013 Jul 23;161A(7):1523-30. Epub 2013 May 23.

Departments of Neurology, Pediatrics, and Biomedical Genetics, Center for Neural Development and Disease, University of Rochester Medical Center, Rochester, NY 14642, USA.

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http://dx.doi.org/10.1002/ajmg.a.35969DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3689850PMC
July 2013

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

Pediatr Neurol 2013 May;48(5):367-77

Division of Genetic Medicine, Department of Pediatrics, University of Washington and Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington 98101, USA.

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http://dx.doi.org/10.1016/j.pediatrneurol.2012.12.030DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3742321PMC
May 2013

Early brain vulnerability in Wolfram syndrome.

PLoS One 2012 11;7(7):e40604. Epub 2012 Jul 11.

Department of Psychiatry, Washington University School of Medicine, St. Louis, Missouri, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0040604PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3394712PMC
January 2013

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-Sep;55(8-9):485-9. Epub 2012 Apr 22.

Department of Pathology and Immunology, Washington University School of Medicine, Campus Box 8118, 660 South Euclid Avenue, St. Louis, MO 63110, USA.

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http://dx.doi.org/10.1016/j.ejmg.2012.04.003DOI Listing
November 2012

Balance impairment in individuals with Wolfram syndrome.

Gait Posture 2012 Jul 6;36(3):619-24. Epub 2012 Jul 6.

Program in Physical Therapy, Washington University School of Medicine, St. Louis, MO 63108, United States.

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http://dx.doi.org/10.1016/j.gaitpost.2012.06.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3417287PMC
July 2012

Genetic and biologic classification of infantile spasms.

Pediatr Neurol 2011 Dec;45(6):355-67

Department of Neurology, University of Washington, Seattle, Washington, USA.

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http://dx.doi.org/10.1016/j.pediatrneurol.2011.08.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3397192PMC
December 2011

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

Bioinformatics 2011 Sep 26;27(18):2595-7. Epub 2011 Jul 26.

Genomics Division, Lawrence Berkeley National Laboratory, MS 84-171, Berkeley, CA 94720, USA.

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http://dx.doi.org/10.1093/bioinformatics/btr440DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3167054PMC
September 2011

The microcephaly-capillary malformation syndrome.

Am J Med Genet A 2011 Sep 3;155A(9):2080-7. Epub 2011 Aug 3.

Department of Human Genetics, University of Chicago, Chicago, Illinois 60637, USA.

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http://dx.doi.org/10.1002/ajmg.a.34118DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3428374PMC
September 2011

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

Pediatr Neurol 2009 Dec;41(6):391-8

Division of Pediatric and Developmental Neurology, Department of Neurology, Washington University School of Medicine, Campus Box 8111, 660 South Euclid Avenue, St. Louis, MO 63110-1093, USA.

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http://dx.doi.org/10.1016/j.pediatrneurol.2009.05.003DOI Listing
December 2009

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

Pediatr Neurol 2008 Apr;38(4):284-6

Division of Human Genetics, Department of Genetics and Developmental Biology, University of Connecticut Health Center, Farmington, Connecticut, USA.

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http://dx.doi.org/10.1016/j.pediatrneurol.2007.12.004DOI Listing
April 2008

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

Mov Disord 2008 Jan;23(1):124-8

Division of Human Genetics, Department of Genetics and Developmental Biology, University of Connecticut Health Center, Connecticut, USA.

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http://dx.doi.org/10.1002/mds.21779DOI Listing
January 2008

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

Pediatr Neurol 2007 Jul;37(1):1-7

Department of Genetics and Developmental Biology, Division of Human Genetics, University of Connecticut Health Center, West Hartford, Connecticut 06119, USA.

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http://dx.doi.org/10.1016/j.pediatrneurol.2007.04.001DOI Listing
July 2007

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

Epilepsy Behav 2002 Jun;3(3):266-274

Department of Pediatrics, Division of Medical Education, Connecticut Children's Medical Center, 282 Washington Street, 06106, Hartford, CT, USA

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http://dx.doi.org/10.1016/s1525-5050(02)00027-6DOI Listing
June 2002