Russell Buono

TitleAdjunct Faculty
InstitutionThomas Jefferson University
DepartmentNeurology
Address901 Walnut Street
Philadelphia PA 19107
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    R01NS040396     (BUONO, RUSSELL J)Jul 1, 2001 - Jul 31, 2007
    NIH
    Genetic Influences on human Epilepsy
    Role: Principal Investigator

    R01NS064154     (HAKONARSON, HAKON)Sep 30, 2009 - Aug 31, 2011
    NIH
    Genetic Study of Common Forms of Epilepsy
    Role: Co-Principal Investigator

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    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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    1. Kusic DM, Heil J, Zajic S, Brangan A, Dairo O, Heil S, Feigin G, Kacinko S, Buono RJ, Ferraro TN, Rafeq R, Haroz R, Baston K, Bodofsky E, Sabia M, Salzman M, Resch A, Madzo J, Scheinfeldt LB, Issa JJ, Jelinek J. Postmortem toxicology findings from the Camden Opioid Research Initiative. PLoS One. 2023; 18(11):e0292674. PMID: 37910493.
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    2. White BE, Liu Y, Hakonarson H, Buono RJ. RNA Sequencing in Hypoxia-Adapted T98G Glioblastoma Cells Provides Supportive Evidence for IRE1 as a Potential Therapeutic Target. Genes (Basel). 2023 Mar 31; 14(4). PMID: 37107600.
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    3. Perucca P, Stanley K, Harris N, McIntosh AM, Asadi-Pooya AA, Mikati MA, Andrade DM, Dugan P, Depondt C, Choi H, Heinzen EL, Cavalleri GL, Buono RJ, Devinsky O, Sperling MR, Berkovic SF, Delanty N, Goldstein DB, O'Brien TJ. Rare Genetic Variation and Outcome of Surgery for Mesial Temporal Lobe Epilepsy. Ann Neurol. 2022 Dec 19. PMID: 36534060.
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    4. Kusic D, Heil J, Zajic S, Brangan A, Dairo O, Smith G, Morales-Scheihing D, Buono RJ, Ferraro TN, Haroz R, Salzman M, Baston K, Bodofsky E, Sabia M, Resch A, Scheinfeldt LB. Patient Perceptions and Potential Utility of Pharmacogenetic Testing in Chronic Pain Management and Opioid Use Disorder in the Camden Opioid Research Initiative. Pharmaceutics. 2022 Sep 03; 14(9). PMID: 36145611.
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    5. Schwarz N, Seiffert S, Pendziwiat M, Rademacher AV, Br?nger T, Hedrich UBS, Augustijn PB, Baier H, Bayat A, Bisulli F, Buono RJ, Bruria BZ, Doyle MG, Guerrini R, Heimer G, Iacomino M, Kearney H, Klein KM, Kousiappa I, Kunz WS, Lerche H, Licchetta L, Lohmann E, Minardi R, McDonald M, Montgomery S, Mulahasanovic L, Oegema R, Ortal B, Papacostas SS, Ragona F, Granata T, Reif PS, Rosenow F, Rothschild A, Scudieri P, Striano P, Tinuper P, Tanteles GA, Vetro A, Zahnert F, Goldberg EM, Zara F, Lal D, May P, Muhle H, Helbig I, Weber Y. Spectrum of Phenotypic, Genetic, and Functional Characteristics in Patients With Epilepsy With KCNC2 Pathogenic Variants. Neurology. 2022 05 17; 98(20):e2046-e2059. PMID: 35314505.
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    6. Buono RJ, Bradfield JP, Wei Z, Sperling MR, Dlugos DJ, Privitera MD, French JA, Lo W, Cossette P, Schachter SC, Basehore H, Lohoff FW, Grant SFA, Ferraro TN, Hakonarson H. Genetic Variation in PADI6-PADI4 on 1p36.13 Is Associated with Common Forms of Human Generalized Epilepsy. Genes (Basel). 2021 Sep 18; 12(9). PMID: 34573423.
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    7. Doyle GA, Reiner BC, Crist RC, Rao AM, Ojeah NS, Arauco-Shapiro G, Levinson RN, Shah LD, Sperling MR, Ferraro TN, Buono RJ, Berrettini WH. Investigation of long interspersed element-1 retrotransposons as potential risk factors for idiopathic temporal lobe epilepsy. Epilepsia. 2021 Apr 07. PMID: 33826137.
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    8. Heil J, Zajic S, Albertson E, Brangan A, Jones I, Roberts W, Sabia M, Bodofsky E, Resch A, Rafeq R, Haroz R, Buono R, Ferraro TN, Scheinfeldt L, Salzman M, Baston K. The Genomics of Opioid Addiction Longitudinal Study (GOALS): study design for a prospective evaluation of genetic and non-genetic factors for development of and recovery from opioid use disorder. BMC Med Genomics. 2021 01 07; 14(1):16. PMID: 33413350.
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    9. Re CJ, Batterman AI, Gerstner JR, Buono RJ, Ferraro TN. The Molecular Genetic Interaction Between Circadian Rhythms and Susceptibility to Seizures and Epilepsy. Front Neurol. 2020; 11:520. PMID: 32714261.
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    10. Batterman AI, DeChiara J, Islam A, Brenner MB, Fischer BD, Buono RJ, Keck TM, Ferraro TN. Cognitive and behavioral effects of brief seizures in mice. Epilepsy Behav. 2019 09; 98(Pt A):249-257. PMID: 31398689.
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    11. Anttila V, Bulik-Sullivan B, Finucane HK, Walters RK, Bras J, Duncan L, Escott-Price V, Falcone GJ, Gormley P, Malik R, Patsopoulos NA, Ripke S, Wei Z, Yu D, Lee PH, Turley P, Grenier-Boley B, Chouraki V, Kamatani Y, Berr C, Letenneur L, Hannequin D, Amouyel P, Boland A, Deleuze JF, Duron E, Vardarajan BN, Reitz C, Goate AM, Huentelman MJ, Kamboh MI, Larson EB, Rogaeva E, St George-Hyslop P, Hakonarson H, Kukull WA, Farrer LA, Barnes LL, Beach TG, Demirci FY, Head E, Hulette CM, Jicha GA, Kauwe JSK, Kaye JA, Leverenz JB, Levey AI, Lieberman AP, Pankratz VS, Poon WW, Quinn JF, Saykin AJ, Schneider LS, Smith AG, Sonnen JA, Stern RA, Van Deerlin VM, Van Eldik LJ, Harold D, Russo G, Rubinsztein DC, Bayer A, Tsolaki M, Proitsi P, Fox NC, Hampel H, Owen MJ, Mead S, Passmore P, Morgan K, Nöthen MM, Rossor M, Lupton MK, Hoffmann P, Kornhuber J, Lawlor B, McQuillin A, Al-Chalabi A, Bis JC, Ruiz A, Boada M, Seshadri S, Beiser A, Rice K, van der Lee SJ, De Jager PL, Geschwind DH, Riemenschneider M, Riedel-Heller S, Rotter JI, Ransmayr G, Hyman BT, Cruchaga C, Alegret M, Winsvold B, Palta P, Farh KH, Cuenca-Leon E, Furlotte N, Kurth T, Ligthart L, Terwindt GM, Freilinger T, Ran C, Gordon SD, Borck G, Adams HHH, Lehtimäki T, Wedenoja J, Buring JE, Schürks M, Hrafnsdottir M, Hottenga JJ, Penninx B, Artto V, Kaunisto M, Vepsäläinen S, Martin NG, Montgomery GW, Kurki MI, Hämäläinen E, Huang H, Huang J, Sandor C, Webber C, Muller-Myhsok B, Schreiber S, Salomaa V, Loehrer E, Göbel H, Macaya A, Pozo-Rosich P, Hansen T, Werge T, Kaprio J, Metspalu A, Kubisch C, Ferrari MD, Belin AC, van den Maagdenberg AMJM, Zwart JA, Boomsma D, Eriksson N, Olesen J, Chasman DI, Nyholt DR, Avbersek A, Baum L, Berkovic S, Bradfield J, Buono R, Catarino CB, Cossette P, De Jonghe P, Depondt C, Dlugos D, Ferraro TN, French J, Hjalgrim H, Jamnadas-Khoda J, Kälviäinen R, Kunz WS, Lerche H, Leu C, Lindhout D, Lo W, Lowenstein D, McCormack M, Møller RS, Molloy A, Ng PW, Oliver K, Privitera M, Radtke R, Ruppert AK, Sander T, Schachter S, Schankin C, Scheffer I, Schoch S, Sisodiya SM, Smith P, Sperling M, Striano P, Surges R, Thomas GN, Visscher F, Whelan CD, Zara F, Heinzen EL, Marson A, Becker F, Stroink H, Zimprich F, Gasser T, Gibbs R, Heutink P, Martinez M, Morris HR, Sharma M, Ryten M, Mok KY, Pulit S, Bevan S, Holliday E, Attia J, Battey T, Boncoraglio G, Thijs V, Chen WM, Mitchell B, Rothwell P, Sharma P, Sudlow C, Vicente A, Markus H, Kourkoulis C, Pera J, Raffeld M, Silliman S, Boraska Perica V, Thornton LM, Huckins LM, William Rayner N, Lewis CM, Gratacos M, Rybakowski F, Keski-Rahkonen A, Raevuori A, Hudson JI, Reichborn-Kjennerud T, Monteleone P, Karwautz A, Mannik K, Baker JH, O'Toole JK, Trace SE, Davis OSP, Helder SG, Ehrlich S, Herpertz-Dahlmann B, Danner UN, van Elburg AA, Clementi M, Forzan M, Docampo E, Lissowska J, Hauser J, Tortorella A, Maj M, Gonidakis F, Tziouvas K, Papezova H, Yilmaz Z, Wagner G, Cohen-Woods S, Herms S, Julià A, Rabionet R, Dick DM, Ripatti S, Andreassen OA, Espeseth T, Lundervold AJ, Steen VM, Pinto D, Scherer SW, Aschauer H, Schosser A, Alfredsson L, Padyukov L, Halmi KA, Mitchell J, Strober M, Bergen AW, Kaye W, Szatkiewicz JP, Cormand B, Ramos-Quiroga JA, Sánchez-Mora C, Ribasés M, Casas M, Hervas A, Arranz MJ, Haavik J, Zayats T, Johansson S, Williams N, Dempfle A, Rothenberger A, Kuntsi J, Oades RD, Banaschewski T, Franke B, Buitelaar JK, Arias Vasquez A, Doyle AE, Reif A, Lesch KP, Freitag C, Rivero O, Palmason H, Romanos M, Langley K, Rietschel M, Witt SH, Dalsgaard S, Børglum AD, Waldman I, Wilmot B, Molly N, Bau CHD, Crosbie J, Schachar R, Loo SK, McGough JJ, Grevet EH, Medland SE, Robinson E, Weiss LA, Bacchelli E, Bailey A, Bal V, Battaglia A, Betancur C, Bolton P, Cantor R, Celestino-Soper P, Dawson G, De Rubeis S, Duque F, Green A, Klauck SM, Leboyer M, Levitt P, Maestrini E, Mane S, De-Luca DM, Parr J, Regan R, Reichenberg A, Sandin S, Vorstman J, Wassink T, Wijsman E, Cook E, Santangelo S, Delorme R, et al. Analysis of shared heritability in common disorders of the brain. Science. 2018 06 22; 360(6395). PMID: 29930110.
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    12. Gerstner JR, Smith GG, Lenz O, Perron IJ, Buono RJ, Ferraro TN. BMAL1 controls the diurnal rhythm and set point for electrical seizure threshold in mice. Front Syst Neurosci. 2014; 8:121. PMID: 25018707.
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    13. Johnson HL, Hanson LM, Chen Y, Bieber AJ, Buono RJ, Ferraro TN, Pirko I, Johnson AJ. Quantitative trait loci analysis reveals candidate genes implicated in regulating functional deficit and CNS vascular permeability in CD8 T cell-initiated blood-brain barrier disruption. BMC Genomics. 2013 Oct 03; 14:678. PMID: 24090483.
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    14. Kasperaviciute D, Catarino CB, Matarin M, Leu C, Novy J, Tostevin A, Leal B, Hessel EV, Hallmann K, Hildebrand MS, Dahl HH, Ryten M, Trabzuni D, Ramasamy A, Alhusaini S, Doherty CP, Dorn T, Hansen J, Krämer G, Steinhoff BJ, Zumsteg D, Duncan S, Kälviäinen RK, Eriksson KJ, Kantanen AM, Pandolfo M, Gruber-Sedlmayr U, Schlachter K, Reinthaler EM, Stogmann E, Zimprich F, Théâtre E, Smith C, O'Brien TJ, Meng Tan K, Petrovski S, Robbiano A, Paravidino R, Zara F, Striano P, Sperling MR, Buono RJ, Hakonarson H, Chaves J, Costa PP, Silva BM, da Silva AM, de Graan PN, Koeleman BP, Becker A, Schoch S, von Lehe M, Reif PS, Rosenow F, Becker F, Weber Y, Lerche H, Rössler K, Buchfelder M, Hamer HM, Kobow K, Coras R, Blumcke I, Scheffer IE, Berkovic SF, Weale ME. Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1A. Brain. 2013 Oct; 136(Pt 10):3140-50. PMID: 24014518.
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    15. Kasteleijn-Nolst Trenit? DG, Schmitz B, Janz D, Delgado-Escueta AV, Thomas P, Hirsch E, Lerche H, Camfield C, Baykan B, Feucht M, Mart?nez-Ju?rez IE, Duron RM, Medina MT, Rubboli G, Jerney J, Hermann B, Yacubian E, Koutroumanidis M, Stephani U, Salas-Puig J, Reed RC, Woermann F, Wandschneider B, Bureau M, Gambardella A, Koepp MJ, Gelisse P, Gurses C, Crespel A, Nguyen-Michel VH, Ferlazzo E, Grisar T, Helbig I, Koeleman BP, Striano P, Trimble M, Buono R, Cossette P, Represa A, Dravet C, Serafini A, Berglund IS, Sisodiya SM, Yamakawa K, Genton P. Consensus on diagnosis and management of JME: From founder's observations to current trends. Epilepsy Behav. 2013 Jul; 28 Suppl 1:S87-90. PMID: 23756490.
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    16. Buono RJ. Genome wide association studies (GWAS) and common forms of human epilepsy. Epilepsy Behav. 2013 Jul; 28 Suppl 1:S63-5. PMID: 23756483.
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    17. Bessa?h T, de Yebenes EG, Kirkland K, Higley MJ, Buono RJ, Ferraro TN, Contreras D. Quantitative trait locus on distal chromosome 1 regulates the occurrence of spontaneous spike-wave discharges in DBA/2 mice. Epilepsia. 2012 Aug; 53(8):1429-35. PMID: 22612065.
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    18. Doyle GA, Wang MJ, Chou AD, Oleynick JU, Arnold SE, Buono RJ, Ferraro TN, Berrettini WH. In vitro and ex vivo analysis of CHRNA3 and CHRNA5 haplotype expression. PLoS One. 2011; 6(8):e23373. PMID: 21858091.
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    19. Inyushin M, Kucheryavykh LY, Kucheryavykh YV, Nichols CG, Buono RJ, Ferraro TN, Skatchkov SN, Eaton MJ. Potassium channel activity and glutamate uptake are impaired in astrocytes of seizure-susceptible DBA/2 mice. Epilepsia. 2010 Sep; 51(9):1707-13. PMID: 20831751.
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    20. Nurmohamed L, Garcia-Bournissen F, Buono RJ, Shannon MW, Finkelstein Y. Predisposition to epilepsy--does the ABCB1 gene play a role? Epilepsia. 2010 Sep; 51(9):1882-5. PMID: 20491876.
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    21. Jeon JP, Buono RJ, Han BG, Jang EY, Kim SC, Yang CH, Hwang M. Proteomic and behavioral analysis of response to isoliquiritigenin in brains of acute cocaine treated rats. J Proteome Res. 2008 Dec; 7(12):5094-102. PMID: 19367698.
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    22. Lohoff FW, Bloch PJ, Weller AE, Nall AH, Doyle GA, Buono RJ, Ferraro TN, Kampman KM, Pettinati HM, Dackis CA, Oslin DW, O'Brien CP, Berrettini WH. Genetic variants in the cocaine- and amphetamine-regulated transcript gene (CARTPT) and cocaine dependence. Neurosci Lett. 2008 Aug 08; 440(3):280-3. PMID: 18572320.
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    23. Lohoff FW, Weller AE, Bloch PJ, Buono RJ, Doyle GA, Ferraro TN, Berrettini WH. Association between polymorphisms in the vesicular monoamine transporter 1 gene (VMAT1/SLC18A1) on chromosome 8p and schizophrenia. Neuropsychobiology. 2008; 57(1-2):55-60. PMID: 18451639.
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    24. Jang EY, Choe ES, Hwang M, Kim SC, Lee JR, Kim SG, Jeon JP, Buono RJ, Yang CH. Isoliquiritigenin suppresses cocaine-induced extracellular dopamine release in rat brain through GABA(B) receptor. Eur J Pharmacol. 2008 Jun 10; 587(1-3):124-8. PMID: 18495107.
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    25. Doyle GA, Furlong PJ, Schwebel CL, Smith GG, Lohoff FW, Buono RJ, Berrettini WH, Ferraro TN. Fine mapping of a major QTL influencing morphine preference in C57BL/6 and DBA/2 mice using congenic strains. Neuropsychopharmacology. 2008 Nov; 33(12):2801-9. PMID: 18288093.
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    26. Dlugos DJ, Ferraro TN, Buono RJ. Novel de novo mutation of a conserved SCN1A amino-acid residue (R1596). Pediatr Neurol. 2007 Oct; 37(4):303-5. PMID: 17903680.
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    27. Ferraro TN, Smith GG, Schwebel CL, Lohoff FW, Furlong P, Berrettini WH, Buono RJ. Quantitative trait locus for seizure susceptibility on mouse chromosome 5 confirmed with reciprocal congenic strains. Physiol Genomics. 2007 Nov 14; 31(3):458-62. PMID: 17698926.
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    28. Ferraro TN, Golden GT, Dahl JP, Smith GG, Schwebel CL, MacDonald R, Lohoff FW, Berrettini WH, Buono RJ. Analysis of a quantitative trait locus for seizure susceptibility in mice using bacterial artificial chromosome-mediated gene transfer. Epilepsia. 2007 Sep; 48(9):1667-1677. PMID: 17521350.
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    29. Doyle GA, Sheng XR, Lin SS, Press DM, Grice DE, Buono RJ, Ferraro TN, Berrettini WH. Identification of five mouse mu-opioid receptor (MOR) gene (Oprm1) splice variants containing a newly identified alternatively spliced exon. Gene. 2007 Jun 15; 395(1-2):98-107. PMID: 17398041.
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    30. Ferraro TN, Dlugos DJ, Buono RJ. Role of genetics in the diagnosis and treatment of epilepsy. Expert Rev Neurother. 2006 Dec; 6(12):1789-800. PMID: 17181426.
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    31. Doyle GA, Rebecca Sheng X, Lin SS, Press DM, Grice DE, Buono RJ, Ferraro TN, Berrettini WH. Identification of three mouse mu-opioid receptor (MOR) gene (Oprm1) splice variants containing a newly identified alternatively spliced exon. Gene. 2007 Feb 15; 388(1-2):135-47. PMID: 17156941.
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    32. Doyle GA, Sheng XR, Schwebel CL, Ferraro TN, Berrettini WH, Buono RJ. Identification and functional significance of polymorphisms in the mu-opioid receptor gene (Oprm) promoter of C57BL/6 and DBA/2 mice. Neurosci Res. 2006 Jul; 55(3):244-54. PMID: 16644048.
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    33. Ferraro TN, Buono RJ. Polygenic epilepsy. Adv Neurol. 2006; 97:389-98. PMID: 16383150.
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    34. Ferraro TN, Dlugos DJ, Buono RJ. Challenges and opportunities in the application of pharmacogenetics to antiepileptic drug therapy. Pharmacogenomics. 2006 Jan; 7(1):89-103. PMID: 16354127.
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    35. Ray R, Doyle GA, Crowley JJ, Buono RJ, Oslin DW, Patkar AA, Mannelli P, DeMaria PA, O'Brien CP, Berrettini WH. A functional prodynorphin promoter polymorphism and opioid dependence. Psychiatr Genet. 2005 Dec; 15(4):295-8. PMID: 16314761.
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    36. McNabb LD, Moore KW, Scena JE, Buono RJ, Berrettini WH. Association analysis of CHMP1.5 genetic variation and bipolar disorder. Psychiatr Genet. 2005 Sep; 15(3):211-4. PMID: 16094257.
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    37. Ferraro TN, Buono RJ. The relationship between the pharmacology of antiepileptic drugs and human gene variation: an overview. Epilepsy Behav. 2005 Aug; 7(1):18-36. PMID: 15979945.
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    38. Lohoff FW, Ferraro TN, Dahl JP, Hildebrandt MA, Scattergood TM, O'Connor MJ, Sperling MR, Dlugos DJ, Berrettini WH, Buono RJ. Lack of association between variations in the brain-derived neurotrophic factor (BDNF) gene and temporal lobe epilepsy. Epilepsy Res. 2005 Aug-Sep; 66(1-3):59-62. PMID: 16105728.
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    39. Lohoff FW, Ferraro TN, Sander T, Zhao H, Dahl JP, Berrettini WH, Buono RJ. No association between common variations in the human alpha 2 subunit gene (ATP1A2) of the sodium-potassium-transporting ATPase and idiopathic generalized epilepsy. Neurosci Lett. 2005 Jul 1-8; 382(1-2):33-8. PMID: 15911117.
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    40. Lohoff FW, Ferraro TN, McNabb L, Schwebel C, Dahl JP, Doyle GA, Buono RJ, Berrettini WH. No association between common variations in the neuronal nicotinic acetylcholine receptor alpha2 subunit gene (CHRNA2) and bipolar I disorder. Psychiatry Res. 2005 Jun 30; 135(3):171-7. PMID: 15996750.
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    41. Dlugos DJ, Scattergood TM, Ferraro TN, Berrettinni WH, Buono RJ. Recruitment rates and fear of phlebotomy in pediatric patients in a genetic study of epilepsy. Epilepsy Behav. 2005 May; 6(3):444-6. PMID: 15820358.
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    42. Ferraro TN, Golden GT, Smith GG, Martin JF, Schwebel CL, Doyle GA, Buono RJ, Berrettini WH. Confirmation of a major QTL influencing oral morphine intake in C57 and DBA mice using reciprocal congenic strains. Neuropsychopharmacology. 2005 Apr; 30(4):742-6. PMID: 15508023.
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    43. Dahl JP, Doyle GA, Oslin DW, Buono RJ, Ferraro TN, Lohoff FW, Berrettini WH. Lack of association between single nucleotide polymorphisms in the corticotropin releasing hormone receptor 1 (CRHR1) gene and alcohol dependence. J Psychiatr Res. 2005 Sep; 39(5):475-9. PMID: 15992556.
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    44. Dlugos DJ, Buono RJ. Predicting outcome of initial treatment with carbamazepine in childhood focal epilepsy. Pediatr Neurol. 2004 May; 30(5):311-5. PMID: 15165631.
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    45. Ferraro TN, Golden GT, Smith GG, Martin JF, Lohoff FW, Gieringer TA, Zamboni D, Schwebel CL, Press DM, Kratzer SO, Zhao H, Berrettini WH, Buono RJ. Fine mapping of a seizure susceptibility locus on mouse Chromosome 1: nomination of Kcnj10 as a causative gene. Mamm Genome. 2004 Apr; 15(4):239-51. PMID: 15112102.
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    46. Ferraro TN, Golden GT, Smith GG, DeMuth D, Buono RJ, Berrettini WH. Mouse strain variation in maximal electroshock seizure threshold. Brain Res. 2002 May 17; 936(1-2):82-6. PMID: 11988233.
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