Ornit Chiba-Falek | Scholars@Duke

Ornit Chiba-Falek
Associate Professor of Neurology

Functional genomics
Non-coding regulatory variants in the human genome
Genetics of complex neurological diseases

Current Appointments & Affiliations

Associate Professor of Neurology, Neurology, Behavioral Neurology, Neurology 2014
Professor in Neurology, Neurology, Behavioral Neurology, Neurology 2019
Associate of the Duke Initiative for Science & Society, Duke Science & Society, Initiatives 2018

Contact Information

311 Research Drive, Bryan Research Building, Room 201A, Durham, NC 27710
Duke Box 2900, Durham, NC 27710
o.chibafalek@duke.edu (919) 681-8001

Background
Education, Training, & Certifications
- Ph.D., Hebrew University 1999
Duke Appointment History
- Assistant Professor in Neurology, Neurology, Behavioral Neurology, Neurology 2013 - 2014
- Assistant Professor in Medicine, Neurology, Clinical Science Departments 2007 - 2013
- Instructor, Temporary in the Department of Medicine, Neurology, Clinical Science Departments 2007
Research
Selected Grants
- Summer Scholars Program in Genome Sciences and Medicine awarded by National Institutes of Health 2017 - 2022
- Deciphering the regulation of gene expression in the etiology of LOAD awarded by National Institutes of Health 2017 - 2022
- ApoE, Alzheimers and Aging: discover the tripleA in iPSC-derived models awarded by Alzheimer's Association 2018 - 2021
- Shared genetic, epigenetic, and transcriptomic profiles between AD and PTSD: molecular insights into the heterogeneity of neuropsychiatric symptoms in Alzheimers Disease awarded by National Institutes of Health 2018 - 2019
- Lewy body neuropathologies and SNCA gene: variants expression and splicing awarded by National Institutes of Health 2013 - 2019
- Role of the TOMM40 poly-T variant in the pathogenesis of Alzheimer's disease awarded by National Institutes of Health 2013 - 2019
- Immunosuppression in humans with AD awarded by National Institutes of Health 2016 - 2018
Publications & Artistic Works
Selected Publications
- Academic Articles
  - Tagliafierro, L, Zamora, ME, and Chiba-Falek, O. "Multiplication of the SNCA locus exacerbates neuronal nuclear aging." Human Molecular Genetics 28, no. 3 (February 2019): 407-421. Full Text
  - Kantor, B, Tagliafierro, L, Gu, J, Zamora, ME, Ilich, E, Grenier, C, Huang, ZY, Murphy, S, and Chiba-Falek, O. "Downregulation of SNCA Expression by Targeted Editing of DNA Methylation: A Potential Strategy for Precision Therapy in PD." Molecular Therapy : the Journal of the American Society of Gene Therapy 26, no. 11 (November 2018): 2638-2649. Full Text
  - Lam, M, Trampush, JW, Yu, J, Knowles, E, Djurovic, S, Melle, I, Sundet, K, Christoforou, A, Reinvang, I, DeRosse, P, Lundervold, AJ, Steen, VM, Espeseth, T, Räikkönen, K, Widen, E, Palotie, A, Eriksson, JG, Giegling, I, Konte, B, Roussos, P, Giakoumaki, S, Burdick, KE, Payton, A, Ollier, W, Chiba-Falek, O, Attix, DK, Need, AC, Cirulli, ET, Voineskos, AN, Stefanis, NC, Avramopoulos, D, Hatzimanolis, A, Arking, DE, Smyrnis, N, Bilder, RM, Freimer, NA, Cannon, TD, London, E, Poldrack, RA, Sabb, FW, Congdon, E, Conley, ED, Scult, MA, Dickinson, D, Straub, RE, Donohoe, G, Morris, D, Corvin, A, Gill, M, Hariri, AR, Weinberger, DR, Pendleton, N, Bitsios, P, Rujescu, D, Lahti, J, Hellard, SL, Keller, MC, Andreassen, OA, Glahn, DC, Malhotra, AK, and Lencz, T. "Multi-Trait Analysis of GWAS and Biological Insights Into Cognition: A Response to Hill (2018)." Twin Research and Human Genetics : the Official Journal of the International Society for Twin Studies 21, no. 5 (October 2018): 394-397. Full Text
  - Afek, A, Tagliafierro, L, Glenn, OC, Lukatsky, DB, Gordan, R, and Chiba-Falek, O. "Toward deciphering the mechanistic role of variations in the Rep1 repeat site in the transcription regulation of SNCA gene." Neurogenetics 19, no. 3 (August 2018): 135-144. Full Text
  - Savage, JE, Jansen, PR, Stringer, S, Watanabe, K, Bryois, J, de Leeuw, CA, Nagel, M, Awasthi, S, Barr, PB, Coleman, JRI, Grasby, KL, Hammerschlag, AR, Kaminski, JA, Karlsson, R, Krapohl, E, Lam, M, Nygaard, M, Reynolds, CA, Trampush, JW, Young, H, Zabaneh, D, Hägg, S, Hansell, NK, Karlsson, IK, Linnarsson, S, Montgomery, GW, Muñoz-Manchado, AB, Quinlan, EB, Schumann, G, Skene, NG, Webb, BT, White, T, Arking, DE, Avramopoulos, D, Bilder, RM, Bitsios, P, Burdick, KE, Cannon, TD, Chiba-Falek, O, Christoforou, A, Cirulli, ET, Congdon, E, Corvin, A, Davies, G, Deary, IJ, DeRosse, P, Dickinson, D, Djurovic, S, Donohoe, G, Conley, ED, Eriksson, JG, Espeseth, T, Freimer, NA, Giakoumaki, S, Giegling, I, Gill, M, Glahn, DC, Hariri, AR, Hatzimanolis, A, Keller, MC, Knowles, E, Koltai, D, Konte, B, Lahti, J, Le Hellard, S, Lencz, T, Liewald, DC, London, E, Lundervold, AJ, Malhotra, AK, Melle, I, Morris, D, Need, AC, Ollier, W, Palotie, A, Payton, A, Pendleton, N, Poldrack, RA, Räikkönen, K, Reinvang, I, Roussos, P, Rujescu, D, Sabb, FW, Scult, MA, Smeland, OB, Smyrnis, N, Starr, JM, Steen, VM, Stefanis, NC, Straub, RE, Sundet, K, Tiemeier, H, Voineskos, AN, Weinberger, DR, Widen, E, Yu, J, Abecasis, G, Andreassen, OA, Breen, G, Christiansen, L, Debrabant, B, Dick, DM, Heinz, A, Hjerling-Leffler, J, Ikram, MA, Kendler, KS, Martin, NG, Medland, SE, Pedersen, NL, Plomin, R, Polderman, TJC, Ripke, S, van der Sluis, S, Sullivan, PF, Vrieze, SI, Wright, MJ, and Posthuma, D. "Genome-wide association meta-analysis in 269,867 individuals identifies new genetic and functional links to intelligence." Nature Genetics 50, no. 7 (July 2018): 912-919. Full Text
  - Davies, G, Lam, M, Harris, SE, Trampush, JW, Luciano, M, Hill, WD, Hagenaars, SP, Ritchie, SJ, Marioni, RE, Fawns-Ritchie, C, Liewald, DCM, Okely, JA, Ahola-Olli, AV, Barnes, CLK, Bertram, L, Bis, JC, Burdick, KE, Christoforou, A, DeRosse, P, Djurovic, S, Espeseth, T, Giakoumaki, S, Giddaluru, S, Gustavson, DE, Hayward, C, Hofer, E, Ikram, MA, Karlsson, R, Knowles, E, Lahti, J, Leber, M, Li, S, Mather, KA, Melle, I, Morris, D, Oldmeadow, C, Palviainen, T, Payton, A, Pazoki, R, Petrovic, K, Reynolds, CA, Sargurupremraj, M, Scholz, M, Smith, JA, Smith, AV, Terzikhan, N, Thalamuthu, A, Trompet, S, van der Lee, SJ, Ware, EB, Windham, BG, Wright, MJ, Yang, J, Yu, J, Ames, D, Amin, N, Amouyel, P, Andreassen, OA, Armstrong, NJ, Assareh, AA, Attia, JR, Attix, D, Avramopoulos, D, Bennett, DA, Böhmer, AC, Boyle, PA, Brodaty, H, Campbell, H, Cannon, TD, Cirulli, ET, Congdon, E, Conley, ED, Corley, J, Cox, SR, Dale, AM, Dehghan, A, Dick, D, Dickinson, D, Eriksson, JG, Evangelou, E, Faul, JD, Ford, I, Freimer, NA, Gao, H, Giegling, I, Gillespie, NA, Gordon, SD, Gottesman, RF, Griswold, ME, Gudnason, V, Harris, TB, Hartmann, AM, Hatzimanolis, A, Heiss, G, Holliday, EG, Joshi, PK, Kähönen, M, Kardia, SLR, Karlsson, I, Kleineidam, L, Knopman, DS, Kochan, NA, Konte, B, Kwok, JB, Le Hellard, S, Lee, T, Lehtimäki, T, Li, S-C, Liu, T, Koini, M, London, E, Longstreth, WT, Lopez, OL, Loukola, A, Luck, T, Lundervold, AJ, Lundquist, A, Lyytikäinen, L-P, Martin, NG, Montgomery, GW, Murray, AD, Need, AC, Noordam, R, Nyberg, L, Ollier, W, Papenberg, G, Pattie, A, Polasek, O, Poldrack, RA, Psaty, BM, Reppermund, S, Riedel-Heller, SG, Rose, RJ, Rotter, JI, Roussos, P, Rovio, SP, Saba, Y, Sabb, FW, Sachdev, PS, Satizabal, CL, Schmid, M, Scott, RJ, Scult, MA, Simino, J, Slagboom, PE, Smyrnis, N, Soumaré, A, Stefanis, NC, Stott, DJ, Straub, RE, Sundet, K, Taylor, AM, Taylor, KD, Tzoulaki, I, Tzourio, C, Uitterlinden, A, Vitart, V, Voineskos, AN, Kaprio, J, Wagner, M, Wagner, H, Weinhold, L, Wen, KH, Widen, E, Yang, Q, Zhao, W, Adams, HHH, Arking, DE, Bilder, RM, Bitsios, P, Boerwinkle, E, Chiba-Falek, O, Corvin, A, De Jager, PL, Debette, S, Donohoe, G, Elliott, P, Fitzpatrick, AL, Gill, M, Glahn, DC, Hägg, S, Hansell, NK, Hariri, AR, Ikram, MK, Jukema, JW, Vuoksimaa, E, Keller, MC, Kremen, WS, Launer, L, Lindenberger, U, Palotie, A, Pedersen, NL, Pendleton, N, Porteous, DJ, Räikkönen, K, Raitakari, OT, Ramirez, A, Reinvang, I, Rudan, I, Dan Rujescu, , Schmidt, R, Schmidt, H, Schofield, PW, Schofield, PR, Starr, JM, Steen, VM, Trollor, JN, Turner, ST, Van Duijn, CM, Villringer, A, Weinberger, DR, Weir, DR, Wilson, JF, Malhotra, A, McIntosh, AM, Gale, CR, Seshadri, S, Mosley, TH, Bressler, J, Lencz, T, and Deary, IJ. "Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function." Nature Communications 9, no. 1 (May 29, 2018): 2098-null. Full Text
  - Chiba-Falek, O, Gottschalk, WK, and Lutz, MW. "The effects of the TOMM40 poly-T alleles on Alzheimer's disease phenotypes." Alzheimer'S & Dementia : the Journal of the Alzheimer'S Association 14, no. 5 (May 2018): 692-698. Full Text
  - Barrera, J, Subramanian, S, and Chiba-Falek, O. "Probing the role of PPARγ in the regulation of late-onset Alzheimer's disease-associated genes." Plos One 13, no. 5 (January 2018): e0196943-null. Full Text
  - Lam, M, Trampush, JW, Yu, J, Knowles, E, Davies, G, Liewald, DC, Starr, JM, Djurovic, S, Melle, I, Sundet, K, Christoforou, A, Reinvang, I, DeRosse, P, Lundervold, AJ, Steen, VM, Espeseth, T, Räikkönen, K, Widen, E, Palotie, A, Eriksson, JG, Giegling, I, Konte, B, Roussos, P, Giakoumaki, S, Burdick, KE, Payton, A, Ollier, W, Chiba-Falek, O, Attix, DK, Need, AC, Cirulli, ET, Voineskos, AN, Stefanis, NC, Avramopoulos, D, Hatzimanolis, A, Arking, DE, Smyrnis, N, Bilder, RM, Freimer, NA, Cannon, TD, London, E, Poldrack, RA, Sabb, FW, Congdon, E, Conley, ED, Scult, MA, Dickinson, D, Straub, RE, Donohoe, G, Morris, D, Corvin, A, Gill, M, Hariri, AR, Weinberger, DR, Pendleton, N, Bitsios, P, Rujescu, D, Lahti, J, Le Hellard, S, Keller, MC, Andreassen, OA, Deary, IJ, Glahn, DC, Malhotra, AK, and Lencz, T. "Large-Scale Cognitive GWAS Meta-Analysis Reveals Tissue-Specific Neural Expression and Potential Nootropic Drug Targets." Cell Reports 21, no. 9 (November 2017): 2597-2613. Full Text
  - Tagliafierro, L, Glenn, O-C, Zamora, ME, Beach, TG, Woltjer, RL, Lutz, MW, and Chiba-Falek, O. "Genetic analysis of α-synuclein 3' untranslated region and its corresponding microRNAs in relation to Parkinson's disease compared to dementia with Lewy bodies." Alzheimer'S & Dementia : the Journal of the Alzheimer'S Association 13, no. 11 (November 2017): 1237-1250. Full Text
  - Trampush, JW, Yang, MLZ, Yu, J, Knowles, E, Davies, G, Liewald, DC, Starr, JM, Djurovic, S, Melle, I, Sundet, K, Christoforou, A, Reinvang, I, DeRosse, P, Lundervold, AJ, Steen, VM, Espeseth, T, Räikkönen, K, Widen, E, Palotie, A, Eriksson, JG, Giegling, I, Konte, B, Roussos, P, Giakoumaki, S, Burdick, KE, Payton, A, Ollier, W, Horan, M, Chiba-Falek, O, Attix, DK, Need, AC, Cirulli, ET, Voineskos, AN, Stefanis, NC, Avramopoulos, D, Hatzimanolis, A, Arking, DE, Smyrnis, N, and Bilder, RM et al. "GWAS meta-analysis reveals novel loci and genetic correlates for general cognitive function: a report from the COGENT consortium." Molecular psychiatry 22, no. 11 (November 2017): 1651-1652. Full Text
  - Chiba-Falek, O. "Structural variants in SNCA gene and the implication to synucleinopathies." Current opinion in genetics & development 44 (June 2017): 110-116. (Review) Full Text
  - Subramanian, S, Gottschalk, WK, Kim, SY, Roses, AD, and Chiba-Falek, O. "The effects of PPARγ on the regulation of the TOMM40-APOE-C1 genes cluster." Biochimica Et Biophysica Acta. Molecular Basis of Disease 1863, no. 3 (March 2017): 810-816. Full Text
  - Trampush, JW, Yang, MLZ, Yu, J, Knowles, E, Davies, G, Liewald, DC, Starr, JM, Djurovic, S, Melle, I, Sundet, K, Christoforou, A, Reinvang, I, DeRosse, P, Lundervold, AJ, Steen, VM, Espeseth, T, Räikkönen, K, Widen, E, Palotie, A, Eriksson, JG, Giegling, I, Konte, B, Roussos, P, Giakoumaki, S, Burdick, KE, Payton, A, Ollier, W, Horan, M, Chiba-Falek, O, Attix, DK, Need, AC, Cirulli, ET, Voineskos, AN, Stefanis, NC, Avramopoulos, D, Hatzimanolis, A, Arking, DE, Smyrnis, N, Bilder, RM, Freimer, NA, Cannon, TD, London, E, Poldrack, RA, Sabb, FW, Congdon, E, Conley, ED, Scult, MA, Dickinson, D, Straub, RE, Donohoe, G, Morris, D, Corvin, A, Gill, M, Hariri, AR, Weinberger, DR, Pendleton, N, Bitsios, P, Rujescu, D, Lahti, J, Le Hellard, S, Keller, MC, Andreassen, OA, Deary, IJ, Glahn, DC, Malhotra, AK, and Lencz, T. "GWAS meta-analysis reveals novel loci and genetic correlates for general cognitive function: a report from the COGENT consortium." Molecular Psychiatry 22, no. 3 (March 2017): 336-345. Full Text
  - Chiba-Falek, O, and Lutz, MW. "Towards precision medicine in Alzheimer's disease: deciphering genetic data to establish informative biomarkers." Expert Review of Precision Medicine and Drug Development 2, no. 1 (January 2017): 47-55. Full Text
  - Glenn, O-C, Tagliafierro, L, Beach, TG, Woltjer, RL, and Chiba-Falek, O. "Interpreting Gene Expression Effects of Disease-Associated Variants: A Lesson from SNCA rs356168." Frontiers in Genetics 8 (January 2017): 133-null. Full Text
  - Saul, R, Lutz, MW, Burns, DK, Roses, AD, and Chiba-Falek, O. "The SSV Evaluation System: A Tool to Prioritize Short Structural Variants for Studies of Possible Regulatory and Causal Variants." Human Mutation 37, no. 9 (September 2016): 877-883. Full Text
  - Tagliafierro, L, Bonawitz, K, Glenn, OC, and Chiba-Falek, O. "Gene Expression Analysis of Neurons and Astrocytes Isolated by Laser Capture Microdissection from Frozen Human Brain Tissues." FRONTIERS IN MOLECULAR NEUROSCIENCE 9 (August 18, 2016). Full Text Link to Item
  - Tagliafierro, L, and Chiba-Falek, O. "Up-regulation of SNCA gene expression: implications to synucleinopathies." Neurogenetics 17, no. 3 (July 2016): 145-157. (Review) Full Text
  - Gottschalk, WK, Mihovilovic, M, Roses, AD, and Chiba-Falek, O. "The Role of Upregulated APOE in Alzheimer's Disease Etiology." Journal of Alzheimer's disease & Parkinsonism 6, no. 1 (March 2016). Full Text
  - Roses, AD, Akkari, PA, Chiba-Falek, O, Lutz, MW, Gottschalk, WK, Saunders, AM, Saul, B, Sundseth, S, and Burns, D. "Structural variants can be more informative for disease diagnostics, prognostics and translation than current SNP mapping and exon sequencing." Expert opinion on drug metabolism & toxicology 12, no. 2 (January 4, 2016): 135-147. (Review) Full Text
  - Tagliafierro, L, Bonawitz, K, Glenn, OC, and Chiba-Falek, O. "Gene Expression Analysis of Neurons and Astrocytes Isolated by Laser Capture Microdissection from Frozen Human Brain Tissues." Frontiers in molecular neuroscience 9 (January 2016): 72-. Full Text
  - Lutz, MW, Saul, R, Linnertz, C, Glenn, O-C, Roses, AD, and Chiba-Falek, O. "A cytosine-thymine (CT)-rich haplotype in intron 4 of SNCA confers risk for Lewy body pathology in Alzheimer's disease and affects SNCA expression." Alzheimer's & dementia : the journal of the Alzheimer's Association 11, no. 10 (October 2015): 1133-1143. Full Text
  - Gottschalk, WK, Lutz, MW, He, YT, Saunders, AM, Burns, DK, Roses, AD, and Chiba-Falek, O. "The Broad Impact of TOM40 on Neurodegenerative Diseases in Aging." Journal of Parkinson'S Disease and Alzheimer'S Disease 1, no. 1 (November 2014). Full Text
  - Roses, AD, Lutz, MW, Saunders, AM, Goldgaber, D, Saul, R, Sundseth, SS, Akkari, PA, Roses, SM, Gottschalk, WK, Whitfield, KE, Vostrov, AA, Hauser, MA, Allingham, RR, Burns, DK, Chiba-Falek, O, and Welsh-Bohmer, KA. "African-American TOMM40'523-APOE haplotypes are admixture of West African and Caucasian alleles." Alzheimer's & dementia : the journal of the Alzheimer's Association 10, no. 6 (November 2014): 592-601.e2. Full Text
  - Linnertz, C, Anderson, L, Gottschalk, W, Crenshaw, D, Lutz, MW, Allen, J, Saith, S, Mihovilovic, M, Burke, JR, Welsh-Bohmer, KA, Roses, AD, and Chiba-Falek, O. "The cis-regulatory effect of an Alzheimer's disease-associated poly-T locus on expression of TOMM40 and apolipoprotein E genes." Alzheimer'S & Dementia : the Journal of the Alzheimer'S Association 10, no. 5 (September 2014): 541-551. Full Text
  - Linnertz, C, Lutz, MW, Ervin, JF, Allen, J, Miller, NR, Welsh-Bohmer, KA, Roses, AD, and Chiba-Falek, O. "The genetic contributions of SNCA and LRRK2 genes to Lewy Body pathology in Alzheimer's disease." Human Molecular Genetics 23, no. 18 (September 2014): 4814-4821. Full Text
  - Chen, J, Li, W, Zhang, T, Wang, Y-J, Jiang, X-J, and Xu, Z-Q. "Glucocerebrosidase gene mutations associated with Parkinson's disease: a meta-analysis in a Chinese population." Plos One 9, no. 12 (January 2014): e115747-null. Full Text
  - Davies, G, Harris, SE, Reynolds, CA, Payton, A, Knight, HM, Liewald, DC, Lopez, LM, Luciano, M, Gow, AJ, Corley, J, Henderson, R, Murray, C, Pattie, A, Fox, HC, Redmond, P, Lutz, MW, Chiba-Falek, O, Linnertz, C, Saith, S, Haggarty, P, McNeill, G, Ke, X, Ollier, W, Horan, M, Roses, AD, Ponting, CP, Porteous, DJ, Tenesa, A, Pickles, A, Starr, JM, Whalley, LJ, Pedersen, NL, Pendleton, N, Visscher, PM, and Deary, IJ. "A genome-wide association study implicates the APOE locus in nonpathological cognitive ageing." Molecular Psychiatry 19, no. 1 (January 1, 2014): 76-87. Full Text
  - Davies, G, Harris, SE, Reynolds, CA, Payton, A, Knight, HM, Liewald, DC, Lopez, LM, Luciano, M, Gow, AJ, Corley, J, Henderson, R, Murray, C, Pattie, A, Fox, HC, Redmond, P, Lutz, MW, Chiba-Falek, O, Linnertz, C, Saith, S, Haggarty, P, McNeill, G, Ke, X, Ollier, W, Horan, M, Roses, AD, Ponting, CP, Porteous, DJ, Tenesa, A, Pickles, A, Starr, JM, Whalley, LJ, Pedersen, NL, Pendleton, N, Visscher, PM, and Deary, IJ. "A genome-wide association study implicates the APOE locus in nonpathological cognitive ageing." Molecular Psychiatry 19, no. 1 (January 2014): 76-87. Full Text
  - Browndyke, JN, Giovanello, K, Petrella, J, Hayden, K, Chiba-Falek, O, Tucker, KA, Burke, JR, and Welsh-Bohmer, KA. "Phenotypic regional functional imaging patterns during memory encoding in mild cognitive impairment and Alzheimer's disease." Alzheimers Dement 9, no. 3 (May 2013): 284-294. Full Text Open Access Copy Link to Item
  - Browndyke, JN, Giovanello, K, Petrella, J, Hayden, K, Chiba-Falek, O, Tucker, KA, Burke, JR, and Welsh-Bohmer, KA. "Phenotypic regional functional imaging patterns during memory encoding in mild cognitive impairment and Alzheimer's disease." Alzheimer's and Dementia 9, no. 3 (2013): 284-294. Full Text
  - Smith, PJ, Need, AC, Cirulli, ET, Chiba-Falek, O, and Attix, DK. "A comparison of the Cambridge Automated Neuropsychological Test Battery (CANTAB) with "traditional" neuropsychological testing instruments." J Clin Exp Neuropsychol 35, no. 3 (2013): 319-328. Full Text Link to Item
  - Smith, PJ, Need, AC, Cirulli, ET, Chiba-Falek, O, and Attix, DK. "A comparison of the Cambridge Automated Neuropsychological Test Battery (CANTAB) with "traditional" neuropsychological testing instruments." Journal of Clinical and Experimental Neuropsychology 35, no. 3 (2013): 319-328. Full Text
  - Chiba-Falek, O, Linnertz, C, Guyton, J, Gardner, SD, Roses, AD, McCarthy, JJ, and Patel, K. "Pleiotropy and allelic heterogeneity in the TOMM40-APOE genomic region related to clinical and metabolic features of hepatitis C infection." Hum Genet 131, no. 12 (December 2012): 1911-1920. Full Text Link to Item
  - Hayden, KM, McEvoy, JM, Linnertz, C, Attix, D, Kuchibhatla, M, Saunders, AM, Lutz, MW, Welsh-Bohmer, KA, Roses, AD, and Chiba-Falek, O. "A homopolymer polymorphism in the TOMM40 gene contributes to cognitive performance in aging." Alzheimers Dement 8, no. 5 (September 2012): 381-388. Full Text Link to Item
  - McCarthy, JJ, Saith, S, Linnertz, C, Burke, JR, Hulette, CM, Welsh-Bohmer, KA, and Chiba-Falek, O. "The Alzheimer's associated 5' region of the SORL1 gene cis regulates SORL1 transcripts expression." Neurobiol Aging 33, no. 7 (July 2012): 1485.e1-1485.e8. Full Text Link to Item
  - Linnertz, C, Saunders, AM, Lutz, MW, Crenshaw, DM, Grossman, I, Burns, DK, Whitfield, KE, Hauser, MA, McCarthy, JJ, Ulmer, M, Allingham, R, Welsh-Bohmer, KA, Roses, AD, and Chiba-Falek, O. "Characterization of the poly-T variant in the TOMM40 gene in diverse populations." PLoS One 7, no. 2 (2012): e30994-. Full Text Link to Item
  - Cirulli, ET, Attix, DK, Smith, PJ, Chiba-Falek, O, Pennuto, TO, Linney, KN, and Goldstein, DB. "Contribution of pastimes and testing strategies to the performance of healthy volunteers on cognitive tests." Clin Neuropsychol 25, no. 5 (July 2011): 778-798. Full Text Link to Item
  - McCarthy, JJ, Linnertz, C, Saucier, L, Burke, JR, Hulette, CM, Welsh-Bohmer, KA, and Chiba-Falek, O. "The effect of SNCA 3' region on the levels of SNCA-112 splicing variant." Neurogenetics 12, no. 1 (February 2011): 59-64. Full Text Link to Item
  - Chiba-Falek, O, Nichols, M, Suchindran, S, Guyton, J, Ginsburg, GS, Barrett-Connor, E, and McCarthy, JJ. "Impact of gene variants on sex-specific regulation of human Scavenger receptor class B type 1 (SR-BI) expression in liver and association with lipid levels in a population-based study. (Published online)" BMC Med Genet 11 (January 19, 2010): 9-. Full Text Open Access Copy Link to Item
  - Chiba Falek, O, Nichols, M, Suchindran, S, Guyton, JR, Ginsburg, GS, Barrett Connor, E, and McCarthy, JJ. "Sex-specific effects of scavenger receptor class B type 1 (SR-BI) gene variants on serum lipid levels and hepatic gene expression." BMC medical genetics 11, no. 1 (January 2010): 9-. (Academic Article)
  - Heinzen, EL, Need, AC, Hayden, KM, Chiba-Falek, O, Roses, AD, Strittmatter, WJ, Burke, JR, Hulette, CM, Welsh-Bohmer, KA, and Goldstein, DB. "Genome-wide scan of copy number variation in late-onset Alzheimer's disease." J Alzheimers Dis 19, no. 1 (2010): 69-77. Full Text Open Access Copy Link to Item
  - Linnertz, C, Saucier, L, Ge, D, Cronin, KD, Burke, JR, Browndyke, JN, Hulette, CM, Welsh-Bohmer, KA, and Chiba-Falek, O. "Genetic regulation of alpha-synuclein mRNA expression in various human brain tissues." Plos One 4, no. 10 (October 16, 2009): e7480-null. Full Text
  - Cronin, KD, Ge, D, Manninger, P, Linnertz, C, Rossoshek, A, Orrison, BM, Bernard, DJ, El-Agnaf, OMA, Schlossmacher, MG, Nussbaum, RL, and Chiba-Falek, O. "Expansion of the Parkinson disease-associated SNCA-Rep1 allele upregulates human alpha-synuclein in transgenic mouse brain." Hum Mol Genet 18, no. 17 (September 1, 2009): 3274-3285. Full Text Link to Item
  - Chiba-Falek, O, Lopez, GJ, and Nussbaum, RL. "Reply: Expression of α-synuclein mRNA in Parkinson's disease [3]." Movement Disorders 22, no. 7 (May 15, 2007): 1057-null. (Letter) Full Text
  - Chiba-Falek, O, Lopez, GJ, and Nussbaum, RL. "Levels of alpha-synuclein mRNA in sporadic Parkinson disease patients." Movement Disorders : Official Journal of the Movement Disorder Society 21, no. 10 (October 2006): 1703-1708. Full Text
  - Chiba-Falek, O, Kowalak, JA, Smulson, ME, and Nussbaum, RL. "Regulation of alpha-synuclein expression by poly (ADP ribose) polymerase-1 (PARP-1) binding to the NACP-Rep1 polymorphic site upstream of the SNCA gene." Am J Hum Genet 76, no. 3 (March 2005): 478-492. Full Text Link to Item
  - Nissim-Rafinia, M, Aviram, M, Randell, SH, Shushi, L, Ozeri, E, Chiba-Falek, O, Eidelman, O, Pollard, HB, Yankaskas, JR, and Kerem, B. "Restoration of the cystic fibrosis transmembrane conductance regulator function by splicing modulation." Embo Reports 5, no. 11 (November 2004): 1071-1077. Full Text
  - Chiba-Falek, O, Touchman, JW, and Nussbaum, RL. "Functional analysis of intra-allelic variation at NACP-Rep1 in the alpha-synuclein gene." Hum Genet 113, no. 5 (October 2003): 426-431. Full Text Link to Item
  - Chiba-Falek, O, and Nussbaum, RL. "Regulation of alpha-synuclein expression: implications for Parkinson's disease." Cold Spring Harb Symp Quant Biol 68 (2003): 409-415. (Review) Link to Item
  - Chiba-Falek, O, and Nussbaum, RL. "Effect of allelic variation at the NACP-Rep1 repeat upstream of the alpha-synuclein gene (SNCA) on transcription in a cell culture luciferase reporter system." Human Molecular Genetics 10, no. 26 (December 2001): 3101-3109. Full Text
  - Touchman, JW, Dehejia, A, Chiba-Falek, O, Cabin, DE, Schwartz, JR, Orrison, BM, Polymeropoulos, MH, and Nussbaum, RL. "Human and mouse alpha-synuclein genes: comparative genomic sequence analysis and identification of a novel gene regulatory element." Genome Research 11, no. 1 (January 2001): 78-86. Full Text
  - Chiba-Falek, O, Orrison, BM, Touchman, JW, Dehejia, A, Polymeropoulos, MH, and Nussbaum, RL. "Analysis of the human alpha-synuclein promoter." AMERICAN JOURNAL OF HUMAN GENETICS 67, no. 4 (October 2000): 194-194. Link to Item
  - Nissim-Rafinia, M, Chiba-Falek, O, and Kerem, B. "Modification of the CFTR splicing pattern by cellular and viral splicing factors in CFTR expressing cells." AMERICAN JOURNAL OF HUMAN GENETICS 67, no. 4 (October 2000): 38-38. Link to Item
  - Nissim-Rafinia, M, Chiba-Falek, O, Sharon, G, Boss, A, and Kerem, B. "Cellular and viral splicing factors can modify the splicing pattern of CFTR transcripts carrying splicing mutations." Hum Mol Genet 9, no. 12 (July 22, 2000): 1771-1778. Link to Item
  - Chiba-Falek, O, Kerem, E, Nissim-Raffinia, M, Tai, A, Aviram, M, Augarten, A, and Kerem, B. "Association between changes with time in the level of aberrantly spliced CFTR mRNA, and CF lung disease severity." AMERICAN JOURNAL OF HUMAN GENETICS 65, no. 4 (October 1999): A288-A288. Link to Item
  - Nissim-Rafinia, M, Chiba-Falek, O, Kerem, E, and Kerem, B. "In vivo modulation of the splicing pattern of CFTR exon 9 by cellular and viral splicing factors." AMERICAN JOURNAL OF HUMAN GENETICS 65, no. 4 (October 1999): A502-A502. Link to Item
  - Chiba-Falek, O, Parad, RB, Kerem, E, and Kerem, B. "Variable levels of normal RNA in different fetal organs carrying a cystic fibrosis transmembrane conductance regulator splicing mutation." Am J Respir Crit Care Med 159, no. 6 (June 1999): 1998-2002. Full Text Link to Item
  - Chiba-Falek, O, Kerem, E, Shoshani, T, Aviram, M, Augarten, A, Bentur, L, Tal, A, Tullis, E, Rahat, A, and Kerem, B. "The molecular basis of disease variability among cystic fibrosis patients carrying the 3849+10 kb C-->T mutation." Genomics 53, no. 3 (November 1, 1998): 276-283. Full Text Link to Item
  - Chiba-Falek, O, Nissim-Rafinia, M, Argaman, Z, Genem, A, Moran, I, Kerem, E, and Kerem, B. "Screening of CFTR mutations in an isolated population: identification of carriers and patients." Eur J Hum Genet 6, no. 2 (March 1998): 181-184. Full Text Link to Item
  - Kerem, E, Rave-Harel, N, Augarten, A, Madgar, I, Nissim-Rafinia, M, Yahav, Y, Goshen, R, Bentur, L, Rivlin, J, Aviram, M, Genem, A, Chiba-Falek, O, Kraemer, MR, Simon, A, Branski, D, and Kerem, B. "A cystic fibrosis transmembrane conductance regulator splice variant with partial penetrance associated with variable cystic fibrosis presentations." Am J Respir Crit Care Med 155, no. 6 (June 1997): 1914-1920. Full Text Link to Item
  - Kerem, B, Chiba-Falek, O, and Kerem, E. "Cystic fibrosis in Jews: frequency and mutation distribution." Genetic Testing 1, no. 1 (January 1997): 35-39. (Review) Full Text
  - Rave-Harel, N, Madgar, I, Goshen, R, Nissim-Rafinia, M, Ziadni, A, Rahat, A, Chiba, O, Kalman, YM, Brautbar, C, and Levinson, D. "CFTR haplotype analysis reveals genetic heterogeneity in the etiology of congenital bilateral aplasia of the vas deferens." Am J Hum Genet 56, no. 6 (June 1995): 1359-1366. Link to Item
- Conference Papers
  - Savage, JE, Jansen, PR, Stringer, S, Watanabe, K, Bryois, J, de Leeuw, CA, Nagel, M, Awasthi, S, Barr, PB, Coleman, JRI, Grasby, KL, Hammerschlag, AR, Kaminski, J, Karlsson, R, Krapohl, E, Lam, M, Nygaard, M, Reynolds, CA, Trampush, JW, Young, H, Zabaneh, D, Hagg, S, Hansell, NK, Karlsson, IK, Linnarsson, S, Montgomery, GW, Munoz-Manchado, AB, Quinlan, EB, Schumann, G, Skene, N, Webb, BT, White, T, Arking, DE, Attix, DK, Avramopoulos, D, Bilder, RM, Bitsios, P, Burdick, KE, Cannon, TD, Chiba-Falek, O, Christoforou, A, Cirulli, ET, Congdon, E, Corvin, A, Davies, G, Deary, IJ, DeRosse, P, Dickinson, D, Djurovic, S, Donohoe, G, Conley, ED, Eriksson, JG, Espeseth, T, Freimer, NA, Giakoumaki, S, Giegling, I, Gill, M, Glahn, DC, Hariri, AR, Hatzimanolis, A, Keller, MC, Knowles, E, Konte, B, Lahti, J, Le Hellard, S, Lencz, T, Liewald, DC, London, E, Lundervold, AJ, Malhotra, AK, Melle, I, Morris, D, Need, AC, Ollier, W, Palotie, A, Payton, A, Pendleton, N, Poldrack, RA, Raikkonen, K, Reinvang, I, Roussos, P, Rujescu, D, Sabb, FW, Scult, MA, Smeland, OB, Smyrnis, N, Starr, JM, Steen, VM, Stefanis, NC, Straub, RE, Sundet, K, Voineskos, AN, Weinberger, DR, Widen, E, Yu, J, Abecasis, G, Andreassen, OA, Breen, G, Christiansen, L, Debrabant, B, Dick, DM, Heinz, A, Hjerling-Leffler, J, Ikram, MA, Kendler, KS, Martin, NG, Medland, SE, Pedersen, NL, Plomin, R, Polderman, TJC, Ripke, S, van der Sluis, S, Sullivan, PF, Tiemeier, H, Vrieze, SI, Wright, MJ, and Posthuma, D. "GWAS meta-analysis (N=279,930) identifies new genes and functional links to general cognitive ability." : BIOMED CENTRAL LTD, March 9, 2018. Link to Item
  - Davies, G, Harris, S, Reynolds, C, Payton, A, Liewald, D, Lopez, L, Luciano, M, Gow, A, Corley, J, Henderson, R, Murray, C, Pattie, A, Fox, H, Redmond, P, Lutz, M, Chiba-Falek, O, Linnertz, C, Saith, S, Knight, H, Haggarty, P, McNeill, G, Ollier, W, Horan, M, Roses, A, Ponting, C, Porteous, D, Tenesa, A, Pickles, A, Starr, J, Whalley, L, Pedersen, N, Pendleton, N, Visscher, P, and Deary, I. "A Genome-wide association study of non-pathological cognitive ageing." November 2012. Link to Item
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