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Jennifer Kwon

TitleAssociate Professor
InstitutionSchool of Medicine and Dentistry
DepartmentNeurology
AddressUniversity of Rochester Medical Center
School of Medicine and Dentistry
601 Elmwood Ave, Box 631
Rochester NY 14642
Other Positions
TitleAssociate Professor
InstitutionSchool of Medicine and Dentistry
DepartmentPediatrics

 
 Awards And Honors
1983     Avery Hopwood Awards, Underclassman Essay and Fiction, University of Michigan
1986 - 1987Klare Memorial Scholarship, University of Michigan School of Public Health
1989     Frank E. Robbins Award, University of Michigan Medical School
2001     Alzheimer Research Forum Award of Merit; for development of the Tau Mutation Website
 
 Overview
Dr. Kwon has three primary research interests. 1) Neonatal Seizures: She has been collaborating with Dr. Ronnie Guillet in an NICHD funded multicenter clinical trial to look at long-term phenobarbital use in neonatal seizures. 2) Batten Disease: Since 2004, she has been collaborating with several other University of Rochester clinicians to evaluate patients with Batten disease prospectively to refine the Unified Batten Disease Rating Scale (UBDRS) as a tool for use in upcoming clinical trials of Batten Disease. 3) Newborn Screening: Dr. Kwon is interested in improving the clinical care and neurologic outcomes of children identified by state newborn screening programs by advocating for rational public health polities for state programs and by developing innovative practices to follow neuro-cognitive development.

 
 Selected Publications
List All   |   Timeline
  1. Kwon JM, D'Aco KE. Clinical neurogenetics: neurologic presentations of metabolic disorders. Neurol Clin. 2013 Nov; 31(4):1031-50.
    View in: PubMed
  2. Mink JW, Augustine EF, Adams HR, Marshall FJ, Kwon JM. Classification and natural history of the neuronal ceroid lipofuscinoses. J Child Neurol. 2013 Sep; 28(9):1101-5.
    View in: PubMed
  3. de Blieck EA, Augustine EF, Marshall FJ, Adams H, Cialone J, Dure L, Kwon JM, Newhouse N, Rose K, Rothberg PG, Vierhile A, Mink JW. Methodology of clinical research in rare diseases: Development of a research program in juvenile neuronal ceroid lipofuscinosis (JNCL) via creation of a patient registry and collaboration with patient advocates. Contemp Clin Trials. 2013 Jul; 35(2):48-54.
    View in: PubMed
  4. Cialone J, Adams H, Augustine EF, Marshall FJ, Kwon JM, Newhouse N, Vierhile A, Levy E, Dure LS, Rose KR, Ramirez-Montealegre D, de Blieck EA, Mink JW. Females experience a more severe disease course in Batten disease. J Inherit Metab Dis. 2012 May; 35(3):549-55.
    View in: PubMed
  5. Kwon JM, Adams H, Rothberg PG, Augustine EF, Marshall FJ, Deblieck EA, Vierhile A, Beck CA, Newhouse NJ, Cialone J, Levy E, Ramirez-Montealegre D, Dure LS, Rose KR, Mink JW. Quantifying physical decline in juvenile neuronal ceroid lipofuscinosis (Batten disease). Neurology. 2011 Nov 15; 77(20):1801-7.
    View in: PubMed
  6. Guillet R, Kwon JM, Chen S, McDermott MP. Urine phenobarbital drug screening: potential use for compliance assessment in neonates. J Child Neurol. 2012 Feb; 27(2):200-3.
    View in: PubMed
  7. Kwon JM, Steiner RD. "I'm fine; I'm just waiting for my disease": the new and growing class of presymptomatic patients. Neurology. 2011 Aug 9; 77(6):522-3.
    View in: PubMed
  8. Cialone J, Augustine EF, Newhouse N, Adams H, Vierhile A, Marshall FJ, de Blieck EA, Kwon J, Rothberg PG, Mink JW. Parent-reported benefits of flupirtine in juvenile neuronal ceroid lipofuscinosis (Batten disease; CLN3) are not supported by quantitative data. J Inherit Metab Dis. 2011 Oct; 34(5):1075-81.
    View in: PubMed
  9. Kwon JM, Guillet R, Shankaran S, Laptook AR, McDonald SA, Ehrenkranz RA, Tyson JE, O'Shea TM, Goldberg RN, Donovan EF, Fanaroff AA, Poole WK, Higgins RD, Walsh MC. Clinical seizures in neonatal hypoxic-ischemic encephalopathy have no independent impact on neurodevelopmental outcome: secondary analyses of data from the neonatal research network hypothermia trial. J Child Neurol. 2011 Mar; 26(3):322-8.
    View in: PubMed
  10. Adams HR, Beck CA, Levy E, Jordan R, Kwon JM, Marshall FJ, Vierhile A, Augustine EF, de Blieck EA, Pearce DA, Mink JW. Genotype does not predict severity of behavioural phenotype in juvenile neuronal ceroid lipofuscinosis (Batten disease). Dev Med Child Neurol. 2010 Jul; 52(7):637-43.
    View in: PubMed
  11. Duffner PK, Caggana M, Orsini JJ, Wenger DA, Patterson MC, Crosley CJ, Kurtzberg J, Arnold GL, Escolar ML, Adams DJ, Andriola MR, Aron AM, Ciafaloni E, Djukic A, Erbe RW, Galvin-Parton P, Helton LE, Kolodny EH, Kosofsky BE, Kronn DF, Kwon JM, Levy PA, Miller-Horn J, Naidich TP, Pellegrino JE, Provenzale JM, Rothman SJ, Wasserstein MP. Newborn screening for Krabbe disease: the New York State model. Pediatr Neurol. 2009 Apr; 40(4):245-52; discussion 253-5.
    View in: PubMed
  12. Guillet R, Kwon JM. Prophylactic phenobarbital administration after resolution of neonatal seizures: survey of current practice. Pediatrics. 2008 Oct; 122(4):731-5.
    View in: PubMed
  13. Adams HR, Kwon J, Marshall FJ, de Blieck EA, Pearce DA, Mink JW. Neuropsychological symptoms of juvenile-onset batten disease: experiences from 2 studies. J Child Neurol. 2007 May; 22(5):621-7.
    View in: PubMed
  14. Guillet R, Kwon J. Seizure recurrence and developmental disabilities after neonatal seizures: outcomes are unrelated to use of phenobarbital prophylaxis. J Child Neurol. 2007 Apr; 22(4):389-95.
    View in: PubMed
  15. Luck RP, Soltani MA, Villalona JF, Lehman RK, Brown MR, Kooros K, Kwon JM. Index of suspicion. Pediatr Rev. 2007 Mar; 28(3):111-7.
    View in: PubMed
  16. Adams H, de Blieck EA, Mink JW, Marshall FJ, Kwon J, Dure L, Rothberg PG, Ramirez-Montealegre D, Pearce DA. Standardized assessment of behavior and adaptive living skills in juvenile neuronal ceroid lipofuscinosis. Dev Med Child Neurol. 2006 Apr; 48(4):259-64.
    View in: PubMed
  17. Hinrichs AL, Wang JC, Bufe B, Kwon JM, Budde J, Allen R, Bertelsen S, Evans W, Dick D, Rice J, Foroud T, Nurnberger J, Tischfield JA, Kuperman S, Crowe R, Hesselbrock V, Schuckit M, Almasy L, Porjesz B, Edenberg HJ, Begleiter H, Meyerhof W, Bierut LJ, Goate AM. Functional variant in a bitter-taste receptor (hTAS2R16) influences risk of alcohol dependence. Am J Hum Genet. 2006 Jan; 78(1):103-11.
    View in: PubMed
  18. Kwon JM, Rothberg PG, Leman AR, Weimer JM, Mink JW, Pearce DA. Novel CLN3 mutation predicted to cause complete loss of protein function does not modify the classical JNCL phenotype. Neurosci Lett. 2005 Oct 21; 387(2):111-4.
    View in: PubMed
  19. Connolly AM, Chez M, Streif EM, Keeling RM, Golumbek PT, Kwon JM, Riviello JJ, Robinson RG, Neuman RJ, Deuel RM. Brain-derived neurotrophic factor and autoantibodies to neural antigens in sera of children with autistic spectrum disorders, Landau-Kleffner syndrome, and epilepsy. Biol Psychiatry. 2006 Feb 15; 59(4):354-63.
    View in: PubMed
  20. Marshall FJ, de Blieck EA, Mink JW, Dure L, Adams H, Messing S, Rothberg PG, Levy E, McDonough T, DeYoung J, Wang M, Ramirez-Montealegre D, Kwon JM, Pearce DA. A clinical rating scale for Batten disease: reliable and relevant for clinical trials. Neurology. 2005 Jul 26; 65(2):275-9.
    View in: PubMed
  21. Jones KA, Porjesz B, Almasy L, Bierut L, Goate A, Wang JC, Dick DM, Hinrichs A, Kwon J, Rice JP, Rohrbaugh J, Stock H, Wu W, Bauer LO, Chorlian DB, Crowe RR, Edenberg HJ, Foroud T, Hesselbrock V, Kuperman S, Nurnberger Jr J, O'Connor SJ, Schuckit MA, Stimus AT, Tischfield JA, Reich T, Begleiter H. Linkage and linkage disequilibrium of evoked EEG oscillations with CHRM2 receptor gene polymorphisms: implications for human brain dynamics and cognition. Int J Psychophysiol. 2004 Jul; 53(2):75-90.
    View in: PubMed
  22. Wang JC, Hinrichs AL, Stock H, Budde J, Allen R, Bertelsen S, Kwon JM, Wu W, Dick DM, Rice J, Jones K, Nurnberger JI, Tischfield J, Porjesz B, Edenberg HJ, Hesselbrock V, Crowe R, Schuckit M, Begleiter H, Reich T, Goate AM, Bierut LJ. Evidence of common and specific genetic effects: association of the muscarinic acetylcholine receptor M2 (CHRM2) gene with alcohol dependence and major depressive syndrome. Hum Mol Genet. 2004 Sep 1; 13(17):1903-11.
    View in: PubMed
  23. Edenberg HJ, Dick DM, Xuei X, Tian H, Almasy L, Bauer LO, Crowe RR, Goate A, Hesselbrock V, Jones K, Kwon J, Li TK, Nurnberger JI, O'Connor SJ, Reich T, Rice J, Schuckit MA, Porjesz B, Foroud T, Begleiter H. Variations in GABRA2, encoding the alpha 2 subunit of the GABA(A) receptor, are associated with alcohol dependence and with brain oscillations. Am J Hum Genet. 2004 Apr; 74(4):705-14.
    View in: PubMed
  24. Verhoeven K, De Jonghe P, Coen K, Verpoorten N, Auer-Grumbach M, Kwon JM, FitzPatrick D, Schmedding E, De Vriendt E, Jacobs A, Van Gerwen V, Wagner K, Hartung HP, Timmerman V. Mutations in the small GTP-ase late endosomal protein RAB7 cause Charcot-Marie-Tooth type 2B neuropathy. Am J Hum Genet. 2003 Mar; 72(3):722-7.
    View in: PubMed
  25. Lambert JC, Araria-Goumidi L, Myllykangas L, Ellis C, Wang JC, Bullido MJ, Harris JM, Artiga MJ, Hernandez D, Kwon JM, Frigard B, Petersen RC, Cumming AM, Pasquier F, Sastre I, Tienari PJ, Frank A, Sulkava R, Morris JC, St Clair D, Mann DM, Wavrant-DeVrièze F, Ezquerra-Trabalon M, Amouyel P, Hardy J, Haltia M, Valdivieso F, Goate AM, Pérez-Tur J, Lendon CL, Chartier-Harlin MC. Contribution of APOE promoter polymorphisms to Alzheimer's disease risk. Neurology. 2002 Jul 9; 59(1):59-66.
    View in: PubMed
  26. Abraham R, Myers A, Wavrant-DeVrieze F, Hamshere ML, Thomas HV, Marshall H, Compton D, Spurlock G, Turic D, Hoogendoorn B, Kwon JM, Petersen RC, Tangalos E, Norton J, Morris JC, Bullock R, Liolitsa D, Lovestone S, Hardy J, Goate A, O'Donovan M, Williams J, Owen MJ, Jones L. Substantial linkage disequilibrium across the insulin-degrading enzyme locus but no association with late-onset Alzheimer's disease. Hum Genet. 2001 Dec; 109(6):646-52.
    View in: PubMed
  27. Nowotny P, Kwon JM, Goate AM. SNP analysis to dissect human traits. Curr Opin Neurobiol. 2001 Oct; 11(5):637-41.
    View in: PubMed
  28. Nowotny P, Kwon JM, Chakraverty S, Nowotny V, Morris JC, Goate AM. Association studies using novel polymorphisms in BACE1 and BACE2. Neuroreport. 2001 Jul 3; 12(9):1799-802.
    View in: PubMed
  29. Myers A, Holmans P, Marshall H, Kwon J, Meyer D, Ramic D, Shears S, Booth J, DeVrieze FW, Crook R, Hamshere M, Abraham R, Tunstall N, Rice F, Carty S, Lillystone S, Kehoe P, Rudrasingham V, Jones L, Lovestone S, Perez-Tur J, Williams J, Owen MJ, Hardy J, Goate AM. Susceptibility locus for Alzheimer's disease on chromosome 10. Science. 2000 Dec 22; 290(5500):2304-5.
    View in: PubMed
  30. Wang JC, Kwon JM, Shah P, Morris JC, Goate A. Effect of APOE genotype and promoter polymorphism on risk of Alzheimer's disease. Neurology. 2000 Dec 12; 55(11):1644-9.
    View in: PubMed
  31. Jiang Z, Cote J, Kwon JM, Goate AM, Wu JY. Aberrant splicing of tau pre-mRNA caused by intronic mutations associated with the inherited dementia frontotemporal dementia with parkinsonism linked to chromosome 17. Mol Cell Biol. 2000 Jun; 20(11):4036-48.
    View in: PubMed
  32. Kwon JM, Nowotny P, Shah PK, Chakraverty S, Norton J, Morris JC, Goate AM. Tau polymorphisms are not associated with Alzheimer's disease. Neurosci Lett. 2000 Apr 21; 284(1-2):77-80.
    View in: PubMed
  33. Hargrave M, James K, Nield K, Toomes C, Georgas K, Sullivan T, Verzijl HT, Oley CA, Little M, De Jonghe P, Kwon JM, Kremer H, Dixon MJ, Timmerman V, Yamada T, Koopman P. Fine mapping of the neurally expressed gene SOX14 to human 3q23, relative to three congenital diseases. Hum Genet. 2000 Apr; 106(4):432-9.
    View in: PubMed
  34. Froelich S, Houlden H, Rizzu P, Chakraverty S, Baker M, Kwon J, Nowotny P, Isaacs A, Nowotny V, Wauters E, van Baren MJ, Oostra BA, Hardy J, Lannfelt L, Goate A, Hutton M, Lendon CL, Heutink P. Construction of a detailed physical and transcript map of the FTDP-17 candidate region on chromosome 17q21. Genomics. 1999 Sep 1; 60(2):129-36.
    View in: PubMed
  35. Hutton M, Lendon CL, Rizzu P, Baker M, Froelich S, Houlden H, Pickering-Brown S, Chakraverty S, Isaacs A, Grover A, Hackett J, Adamson J, Lincoln S, Dickson D, Davies P, Petersen RC, Stevens M, de Graaff E, Wauters E, van Baren J, Hillebrand M, Joosse M, Kwon JM, Nowotny P, Che LK, Norton J, Morris JC, Reed LA, Trojanowski J, Basun H, Lannfelt L, Neystat M, Fahn S, Dark F, Tannenberg T, Dodd PR, Hayward N, Kwok JB, Schofield PR, Andreadis A, Snowden J, Craufurd D, Neary D, Owen F, Oostra BA, Hardy J, Goate A, van Swieten J, Mann D, Lynch T, Heutink P. Association of missense and 5'-splice-site mutations in tau with the inherited dementia FTDP-17. Nature. 1998 Jun 18; 393(6686):702-5.
    View in: PubMed
  36. Elliott JL, Kwon JM, Goodfellow PJ, Yee WC. Hereditary motor and sensory neuropathy IIB: clinical and electrodiagnostic characteristics. Neurology. 1997 Jan; 48(1):23-8.
    View in: PubMed
  37. Neuman RJ, Kwon JM, Jilek-Aall L, Rwiza HT, Rice JP, Goodfellow PJ. Genetic analysis of kifafa, a complex familial seizure disorder. Am J Hum Genet. 1995 Oct; 57(4):902-10.
    View in: PubMed
  38. Kwon JM, Boehnke M, Burns TL, Moll PP. Commingling and segregation analyses: comparison of results from a simulation study of a quantitative trait. Genet Epidemiol. 1990; 7(1):57-68.
    View in: PubMed

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