Jennifer M. Kwon, M.D., M.P.H.

Jennifer M. Kwon, M.D., M.P.H.

Contact Information

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

Fax: (585) 275-3683
Office: (585) 275-2808

Journal Articles

Showing all 54 journal articles available.

2017 Jan
Kemper AR, Brosco J, Comeau AM, Green NS, Grosse SD, Jones E, Kwon JM, Lam WK, Ojodu J, Prosser LA, Tanksley S. "Newborn screening for X-linked adrenoleukodystrophy: evidence summary and advisory committee recommendation." Genetics in medicine : official journal of the American College of Medical Genetics. 2017 Jan; 19(1):121-126. Epub 2016 Jun 23.
2016 Dec
Wasserstein MP, Andriola M, Arnold G, Aron A, Duffner P, Erbe RW, Escolar ML, Estrella L, Galvin-Parton P, Iglesias A, Kay DM, Kronn DF, Kurtzberg J, Kwon JM, Langan TJ, Levy PA, Naidich TP, Orsini JJ, Pellegrino JE, Provenzale JM, Wenger DA, Caggana M. "Clinical outcomes of children with abnormal newborn screening results for Krabbe disease in New York State." Genetics in medicine : official journal of the American College of Medical Genetics. 2016 Dec; 18(12):1235-1243. Epub 2016 May 12.
2016 Aug
Kwon JM, Abdel-Hamid HZ, Al-Zaidy SA, Mendell JR, Kennedy A, Kinnett K, Cwik VA, Street N, Bolen J, Day JW, Connolly AM. "Clinical Follow-Up for Duchenne Muscular Dystrophy Newborn Screening: A Proposal." Muscle & nerve. 2016 Aug; 54(2):186-91. Epub 2016 Jun 13.
2016 Mar
Orsini JJ, Kay DM, Saavedra-Matiz CA, Wenger DA, Duffner PK, Erbe RW, Biski C, Martin M, Krein LM, Nichols M, Kurtzberg J, Escolar ML, Adams DJ, Arnold GL, Iglesias A, Galvin-Parton P, Kronn DF, Kwon JM, Levy PA, Pellegrino JE, Shur N, Wasserstein MP, Caggana M. "Newborn screening for Krabbe disease in New York State: the first eight years' experience." Genetics in medicine : official journal of the American College of Medical Genetics. 2016 Mar; 18(3):239-48. Epub 2016 Jan 21.
2016 Jan
Gatheridge MA, Kwon JM, Mendell JM, Scheuerbrandt G, Moat SJ, Eyskens F, Rockman-Greenberg C, Drousiotou A, Griggs RC. "Identifying Non-Duchenne Muscular Dystrophy-Positive and False Negative Results in Prior Duchenne Muscular Dystrophy Newborn Screening Programs: A Review." JAMA neurology. 2016 Jan; 73(1):111-6.
Dees RH, Kwon JM. "Religion and Newborn Screening." The American journal of bioethics : AJOB. 2016 16(1):20-1.
2015 Feb
Scully MA, Farrell PM, Ciafaloni E, Griggs RC, Kwon JM. "Cystic fibrosis newborn screening: a model for neuromuscular disease screening?" Annals of neurology. 2015 Feb; 77(2):189-97. Epub 2014 Dec 13.
2014 Apr
Seltzer LE, Swartz M, Kwon JM, Burchfiel J, Alfieris GM, Guillet R. "Intraoperative electroencephalography predicts postoperative seizures in infants with congenital heart disease." Pediatric neurology. 2014 Apr; 50(4):313-7. Epub 2013 Dec 19.
2014 Feb
Adams HR, Rose K, Augustine EF, Kwon JM, Deblieck EA, Marshall FJ, Vierhile A, Mink JW, Nance MA. "Experience, knowledge, and opinions about childhood genetic testing in Batten disease." Molecular genetics and metabolism. 2014 Feb; 111(2):197-202. Epub 2013 Nov 04.
2013 Nov
Kwon JM, D'Aco KE. "Clinical neurogenetics: neurologic presentations of metabolic disorders." Neurologic clinics. 2013 Nov; 31(4):1031-50. Epub 2013 Aug 08.
2013 Sep
Mink JW, Augustine EF, Adams HR, Marshall FJ, Kwon JM. "Classification and natural history of the neuronal ceroid lipofuscinoses." Journal of child neurology. 2013 Sep; 28(9):1101-5. Epub 2013 Jul 09.
2013 Jul
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." Contemporary clinical trials. 2013 Jul; 35(2):48-54. Epub 2013 Apr 26.
Dees, R.; Kwon, J. M. "The ethics of Krabbe newborn screening". Public Health Ethics. 2013; 6: 114-128.
2012 May
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." Journal of inherited metabolic disease. 2012 May; 35(3):549-55. Epub 2011 Dec 14.
2012 Feb
Guillet R, Kwon JM, Chen S, McDermott MP. "Urine phenobarbital drug screening: potential use for compliance assessment in neonates." Journal of child neurology. 2012 Feb; 27(2):200-3. Epub 2011 Sep 27.
Guillet, R.; Kwon, J. M.; Chen, S.; McDermott, M. P. "Urine phenobarbital drug screening: potential use for compliance assessment in neonates". J Child Neurol. 2012; 27: 200-203.
2011 Nov 15
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. Epub 2011 Oct 19.
2011 Oct
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." Journal of inherited metabolic disease. 2011 Oct; 34(5):1075-81. Epub 2011 May 10.
2011 Mar
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." Journal of child neurology. 2011 Mar; 26(3):322-8. Epub 2010 Oct 04.
Kwon, J.M.; Adams, H.; Rothberg, P.G.; Augustine, E.F.; Marshal, F.J.; deBlieck, E.A.; Vierhile, A.; Beck, C.A.; Newhouse, N.J.; Levy, E.; Ramirez-Montealagre, D.; Dure, L.S.; Mink, J.W. "Quantifying Physical Decline in Juvenile Neuronal Ceroid Lipofuscinosis (Batten Disease)." Neurology. 2011; 77: 1801-7.
2010 Jul
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)." Developmental medicine and child neurology. 2010 Jul; 52(7):637-43. Epub 2010 Feb 19.
2009 Apr
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." Pediatric neurology. 2009 Apr; 40(4):245-52; discussion 253-5.
2008 Oct
Guillet R, Kwon JM. "Prophylactic phenobarbital administration after resolution of neonatal seizures: survey of current practice." Pediatrics. 2008 Oct; 122(4):731-5.
Kwon, J. M.; Dees, R. H. "Pediatric Screening and the Public Good". Cerebrum: The Dana Forum on Brain Science. 2008; . Link
2007 May
Adams HR, Kwon J, Marshall FJ, de Blieck EA, Pearce DA, Mink JW. "Neuropsychological symptoms of juvenile-onset batten disease: experiences from 2 studies." Journal of child neurology. 2007 May; 22(5):621-7.
2007 Apr
Guillet R, Kwon J. "Seizure recurrence and developmental disabilities after neonatal seizures: outcomes are unrelated to use of phenobarbital prophylaxis." Journal of child neurology. 2007 Apr; 22(4):389-95.
Luck RP, Soltani MA, Villalona JF, Lehman RK, Brown MR, Kooros K, Kwon JM. "Index of suspicion." Rediatr Rev. 2007; 28: 111-117.
Guillet R, Kwon JM. "Seizure Recurrence and Developmental Disabilities after Neonatal Seizures: Outcomes are Unrelated to Use of Phenobarbital Prophylaxis." J Child Neurology. 2007; 22: 389-395.
2006 Apr
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." Developmental medicine and child neurology. 2006 Apr; 48(4):259-64.
2006 Jan
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." American journal of human genetics. 2006 Jan; 78(1):103-11. Epub 2005 Nov 21.
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; 9: 354-363.
2005 Oct 21
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." Neuroscience letters. 2005 Oct 21; 387(2):111-4.
2005 Jul 26
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.
2004 Sep 1
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." Human molecular genetics. 2004 Sep 1; 13(17):1903-11. Epub 2004 Jun 30.
2004 Jul
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." International journal of psychophysiology : official journal of the International Organization of Psychophysiology. 2004 Jul; 53(2):75-90.
2004 Apr
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." American journal of human genetics. 2004 Apr; 74(4):705-14. Epub 2004 Mar 12.
2003 Mar
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." American journal of human genetics. 2003 Mar; 72(3):722-7. Epub 2003 Jan 21.
2002 Jul 9
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.
2001 Dec
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." Human genetics. 2001 Dec; 109(6):646-52. Epub 2001 Nov 01.
2001 Oct
Nowotny P, Kwon JM, Goate AM. "SNP analysis to dissect human traits." Current opinion in neurobiology. 2001 Oct; 11(5):637-41.
2001 Jul 3
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.
2000 Dec 22
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.
2000 Dec 12
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.
2000 Jun
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." Molecular and cellular biology. 2000 Jun; 20(11):4036-48.
2000 Apr 21
Kwon JM, Nowotny P, Shah PK, Chakraverty S, Norton J, Morris JC, Goate AM. "Tau polymorphisms are not associated with Alzheimer's disease." Neuroscience letters. 2000 Apr 21; 284(1-2):77-80.
2000 Apr
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." Human genetics. 2000 Apr; 106(4):432-9.
Saccone NL, Kwon JM, Corbett J, Goate A, Rochberg N, Edenberg HJ, Foroud T, Li T-K, Begleiter H, Reich T, Rice JP. "A genome screen of maximum number of drinks as an alchoholism phenotype." Am J Med Genetics. 2000; 96: 632-637.
1999 Sep 1
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.
1998 Jun 18
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.
1997 Jan
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.
1995 Oct
Neuman RJ, Kwon JM, Jilek-Aall L, Rwiza HT, Rice JP, Goodfellow PJ. "Genetic analysis of kifafa, a complex familial seizure disorder." American journal of human genetics. 1995 Oct; 57(4):902-10.
Kwon JM; Elliott JL; Yee WC; Ivanovich J; Scavarda N; Moolsintong PJ; Goodfellow PJ. "Assignment of a second Charcot-Marie-Tooth type II locus to chromosome 3q." Am J Hum Genet. 1995; 57: 858-858.
Kwon JM, Boehnke M, Burns TL, Moll PP. "Commingling and segregation analyses: comparison of results from a simulation study of a quantitative trait." Genetic epidemiology. 1990 7(1):57-68.
Lundy EF; Kuhn JE; Kwon JM; Zelenock GB; D'Alecy LG. "Infusion of five percent dextrose increases mortality and morbidity following six minutes of cardiac arrest in resuscitiated dogs." Journal of Critical Care. 1987; 2: 4-14.


Kwon, JM. "Neurodegenerative Disorders". Nelson Textbook of Pediatrics. : Elsevier Saunders, 2014.
MH Sims JM Kwon. "Developmental and Neurocutaneous Disorders". Andreoli & Carpenter's Cecil Essentials of Medicine. : Elsevier, 2014.
Kwon JM. "Neurodegenerative Disorders". Nelson Textbook of Pediatrics. Kliegman RM, Stanton BF, St. Geme JW, Schor NF, Behrman RE. Philadelphia: Elsevier Saunders, 2011. 2069-2072
Kwon JM. "Febrile seizures". Pediatric clinical advisor. Garfunkel LC, Kaczorowski J, Christy C. Philadelphia: Mosby, Inc, 2007.
Kwon JM. "Bell's Palsy". Pediatric clinical advisor. Garfunkel LC, Kaczorowski J, Christy C. Philadelphia: Mosby, Inc, 2007.
Kwon JM. "Guillain-Barre syndrome". Pediatric clinical advisor. Garfunkel LC, Kaczorowski J, Christy C. Philadelphia: Mosby, Inc, 2007.