Ornit Chiba-Falek | Scholars@Duke

Ornit Chiba-Falek
Professor in Neurology

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

Current Appointments & Affiliations

Professor in Neurology, Neurology, Behavioral Neurology, Neurology 2021
Professor in Pathology, Pathology, Clinical Science Departments 2020
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 (Israel) 1999
Duke Appointment History
- Professor in Neurology, Neurology, Behavioral Neurology, Neurology 2019 - 2020
- Associate Professor of Neurology, Neurology, Behavioral Neurology, Neurology 2014 - 2019
- 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
- Mechanisms of mitochondrial genome integrity in familial and idiopathic Parkinson's disease awarded by National Institutes of Health 2020 - 2025
- Lewy body neuropathologies and SNCA gene: variants expression and splicing awarded by National Institutes of Health 2020 - 2025
- Duke Creating ADRD Researchers for the Next Generation - Stimulating Access to Research in Residency Program (CARiNG-StARR)" awarded by National Institutes of Health 2020 - 2023
- Developing Novel Medicines to Treat Dystonia awarded by Department of Defense 2019 - 2022
- Proteomic Determination of APOE4-induced Neuroinflammation in the Pathogenesis of Alzheimer's Disease awarded by Ruth K. Broad Biomedical Research Foundation 2020 - 2022
- Preparing Genetic Counselors for Genomic Medicine Research 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
- 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 - 2020
- Hepara sulfate proteoglycan in Alzheimer's disease awarded by University of South Florida 2019 - 2020
- Role of the TOMM40 poly-T variant in the pathogenesis of Alzheimer's disease awarded by National Institutes of Health 2013 - 2020
- Lewy body neuropathologies and SNCA gene: variants expression and splicing awarded by National Institutes of Health 2013 - 2020
- ApoE, Alzheimers and Aging: discover the tripleA in iPSC-derived models awarded by Alzheimer's Association 2018 - 2019
- Immunosuppression in humans with AD awarded by National Institutes of Health 2016 - 2018
External Relationships
- Seelos Therapeutics
Publications & Artistic Works
Selected Publications
- Academic Articles
  - MacDougall, Gabriella, Logan Y. Brown, Boris Kantor, and Ornit Chiba-Falek. “The Path to Progress Preclinical Studies of Age-Related Neurodegenerative Diseases: A Perspective on Rodent and hiPSC-Derived Models.” Mol Ther 29, no. 3 (March 3, 2021): 949–72. https://doi.org/10.1016/j.ymthe.2021.01.001.
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  - Yang, Anna, Boris Kantor, and Ornit Chiba-Falek. “APOE: The New Frontier in the Development of a Therapeutic Target towards Precision Medicine in Late-Onset Alzheimer's.” Int J Mol Sci 22, no. 3 (January 27, 2021). https://doi.org/10.3390/ijms22031244.
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  - Chen, Vivian, Malik Moncalvo, Dominic Tringali, Lidia Tagliafierro, Ahila Shriskanda, Ekaterina Ilich, Wendy Dong, Boris Kantor, and Ornit Chiba-Falek. “The mechanistic role of alpha-synuclein in the nucleus: impaired nuclear function caused by familial Parkinson's disease SNCA mutations.” Hum Mol Genet 29, no. 18 (November 4, 2020): 3107–21. https://doi.org/10.1093/hmg/ddaa183.
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  - Angrist, Misha, Anna Yang, Boris Kantor, and Ornit Chiba-Falek. “Good problems to have? Policy and societal implications of a disease-modifying therapy for presymptomatic late-onset Alzheimer's disease.” Life Sci Soc Policy 16, no. 1 (October 12, 2020): 11. https://doi.org/10.1186/s40504-020-00106-2.
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  - Lutz, Michael W., Sheng Luo, Douglas E. Williamson, and Ornit Chiba-Falek. “Shared genetic etiology underlying late-onset Alzheimer's disease and posttraumatic stress syndrome.” Alzheimers Dement 16, no. 9 (September 2020): 1280–92. https://doi.org/10.1002/alz.12128.
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  - Gamache, Julia, Young Yun, and Ornit Chiba-Falek. “Sex-dependent effect of APOE on Alzheimer's disease and other age-related neurodegenerative disorders.” Dis Model Mech 13, no. 8 (August 27, 2020). https://doi.org/10.1242/dmm.045211.
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  - Lutz, Michael W., Daniel Sprague, Julio Barrera, and Ornit Chiba-Falek. “Shared genetic etiology underlying Alzheimer's disease and major depressive disorder.” Transl Psychiatry 10, no. 1 (March 9, 2020): 88. https://doi.org/10.1038/s41398-020-0769-y.
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  - Rittiner, Joseph Edward, Malik Moncalvo, Ornit Chiba-Falek, and Boris Kantor. “Gene-Editing Technologies Paired With Viral Vectors for Translational Research Into Neurodegenerative Diseases.” Front Mol Neurosci 13 (2020): 148. https://doi.org/10.3389/fnmol.2020.00148.
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  - Lam, Max, W David Hill, Joey W. Trampush, Jin Yu, Emma Knowles, Gail Davies, Eli Stahl, et al. “Pleiotropic Meta-Analysis of Cognition, Education, and Schizophrenia Differentiates Roles of Early Neurodevelopmental and Adult Synaptic Pathways.” Am J Hum Genet 105, no. 2 (August 1, 2019): 334–50. https://doi.org/10.1016/j.ajhg.2019.06.012.
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  - Lutz, Michael W., Daniel Sprague, and Ornit Chiba-Falek. “Bioinformatics strategy to advance the interpretation of Alzheimer's disease GWAS discoveries: The roads from association to causation.” Alzheimers Dement 15, no. 8 (August 2019): 1048–58. https://doi.org/10.1016/j.jalz.2019.04.014.
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  - Davies, Gail, Max Lam, Sarah E. Harris, Joey W. Trampush, Michelle Luciano, W David Hill, Saskia P. Hagenaars, et al. “Author Correction: Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function.” Nat Commun 10, no. 1 (May 1, 2019): 2068. https://doi.org/10.1038/s41467-019-10160-w.
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  - Tagliafierro, Lidia, Ekaterina Ilich, Malik Moncalvo, Jeffrey Gu, Ahila Sriskanda, Carole Grenier, Susan K. Murphy, Ornit Chiba-Falek, and Boris Kantor. “Lentiviral Vector Platform for the Efficient Delivery of Epigenome-editing Tools into Human Induced Pluripotent Stem Cell-derived Disease Models.” J Vis Exp, no. 145 (March 29, 2019). https://doi.org/10.3791/59241.
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  - Tagliafierro, Lidia, Madison Elena Zamora, and Ornit Chiba-Falek. “Multiplication of the SNCA locus exacerbates neuronal nuclear aging.” Hum Mol Genet 28, no. 3 (February 1, 2019): 407–21. https://doi.org/10.1093/hmg/ddy355.
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  - Kantor, Boris, Lidia Tagliafierro, Jeffrey Gu, Madison E. Zamora, Ekaterina Ilich, Carole Grenier, Zhiqing Y. Huang, Susan Murphy, and Ornit Chiba-Falek. “Downregulation of SNCA Expression by Targeted Editing of DNA Methylation: A Potential Strategy for Precision Therapy in PD.” Mol Ther 26, no. 11 (November 7, 2018): 2638–49. https://doi.org/10.1016/j.ymthe.2018.08.019.
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  - Lam, Max, Joey W. Trampush, Jin Yu, Emma Knowles, Srdjan Djurovic, Ingrid Melle, Kjetil Sundet, et al. “Multi-Trait Analysis of GWAS and Biological Insights Into Cognition: A Response to Hill (2018).” Twin Res Hum Genet 21, no. 5 (October 2018): 394–97. https://doi.org/10.1017/thg.2018.46.
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  - Afek, A., L. Tagliafierro, O. C. Glenn, D. B. Lukatsky, R. Gordan, and O. Chiba-Falek. “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): 135–44. https://doi.org/10.1007/s10048-018-0546-8.
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  - Savage, Jeanne E., Philip R. Jansen, Sven Stringer, Kyoko Watanabe, Julien Bryois, Christiaan A. de Leeuw, Mats Nagel, et al. “Genome-wide association meta-analysis in 269,867 individuals identifies new genetic and functional links to intelligence.” Nat Genet 50, no. 7 (July 2018): 912–19. https://doi.org/10.1038/s41588-018-0152-6.
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  - Davies, Gail, Max Lam, Sarah E. Harris, Joey W. Trampush, Michelle Luciano, W David Hill, Saskia P. Hagenaars, et al. “Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function.” Nat Commun 9, no. 1 (May 29, 2018): 2098. https://doi.org/10.1038/s41467-018-04362-x.
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  - Chiba-Falek, Ornit, William K. Gottschalk, and Michael W. Lutz. “The effects of the TOMM40 poly-T alleles on Alzheimer's disease phenotypes.” Alzheimers Dement 14, no. 5 (May 2018): 692–98. https://doi.org/10.1016/j.jalz.2018.01.015.
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  - Barrera, Julio, Shobana Subramanian, and Ornit Chiba-Falek. “Probing the role of PPARγ in the regulation of late-onset Alzheimer's disease-associated genes.” Plos One 13, no. 5 (2018): e0196943. https://doi.org/10.1371/journal.pone.0196943.
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  - Lam, Max, Joey W. Trampush, Jin Yu, Emma Knowles, Gail Davies, David C. Liewald, John M. Starr, et al. “Large-Scale Cognitive GWAS Meta-Analysis Reveals Tissue-Specific Neural Expression and Potential Nootropic Drug Targets.” Cell Rep 21, no. 9 (November 28, 2017): 2597–2613. https://doi.org/10.1016/j.celrep.2017.11.028.
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  - Tagliafierro, Lidia, Omolara-Chinue Glenn, Madison E. Zamora, Thomas G. Beach, Randy L. Woltjer, Michael W. Lutz, and Ornit Chiba-Falek. “Genetic analysis of α-synuclein 3' untranslated region and its corresponding microRNAs in relation to Parkinson's disease compared to dementia with Lewy bodies.” Alzheimers Dement 13, no. 11 (November 2017): 1237–50. https://doi.org/10.1016/j.jalz.2017.03.001.
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  - Trampush, J. W., M. L. Z. Yang, J. Yu, E. Knowles, G. Davies, D. C. Liewald, J. M. Starr, et al. “GWAS meta-analysis reveals novel loci and genetic correlates for general cognitive function: a report from the COGENT consortium.” Mol Psychiatry 22, no. 11 (November 2017): 1651–52. https://doi.org/10.1038/mp.2017.197.
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  - Chiba-Falek, Ornit. “Structural variants in SNCA gene and the implication to synucleinopathies.” Curr Opin Genet Dev 44 (June 2017): 110–16. https://doi.org/10.1016/j.gde.2017.01.014.
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  - Subramanian, Shobana, William K. Gottschalk, So Young Kim, Allen D. Roses, and Ornit Chiba-Falek. “The effects of PPARγ on the regulation of the TOMM40-APOE-C1 genes cluster.” Biochim Biophys Acta Mol Basis Dis 1863, no. 3 (March 2017): 810–16. https://doi.org/10.1016/j.bbadis.2017.01.004.
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  - Trampush, J. W., M. L. Z. Yang, J. Yu, E. Knowles, G. Davies, D. C. Liewald, J. M. Starr, et al. “GWAS meta-analysis reveals novel loci and genetic correlates for general cognitive function: a report from the COGENT consortium.” Mol Psychiatry 22, no. 3 (March 2017): 336–45. https://doi.org/10.1038/mp.2016.244.
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  - Chiba-Falek, Ornit, and Michael W. Lutz. “Towards precision medicine in Alzheimer's disease: deciphering genetic data to establish informative biomarkers.” Expert Rev Precis Med Drug Dev 2, no. 1 (2017): 47–55. https://doi.org/10.1080/23808993.2017.1286227.
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  - Glenn, Omolara-Chinue, Lidia Tagliafierro, Thomas G. Beach, Randy L. Woltjer, and Ornit Chiba-Falek. “Interpreting Gene Expression Effects of Disease-Associated Variants: A Lesson from SNCA rs356168.” Front Genet 8 (2017): 133. https://doi.org/10.3389/fgene.2017.00133.
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  - Saul, Robert, Michael W. Lutz, Daniel K. Burns, Allen D. Roses, and Ornit Chiba-Falek. “The SSV Evaluation System: A Tool to Prioritize Short Structural Variants for Studies of Possible Regulatory and Causal Variants.” Hum Mutat 37, no. 9 (September 2016): 877–83. https://doi.org/10.1002/humu.23023.
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  - Tagliafierro, Lidia, Kirsten Bonawitz, Omolara C. Glenn, and Omit Chiba-Falek. “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). https://doi.org/10.3382/fnmol.2016.00072.
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  - Tagliafierro, L., and O. Chiba-Falek. “Up-regulation of SNCA gene expression: implications to synucleinopathies.” Neurogenetics 17, no. 3 (July 2016): 145–57. https://doi.org/10.1007/s10048-016-0478-0.
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  - Gottschalk, William K., Mirta Mihovilovic, Allen D. Roses, and Ornit Chiba-Falek. “The Role of Upregulated APOE in Alzheimer's Disease Etiology.” J Alzheimers Dis Parkinsonism 6, no. 1 (March 2016). https://doi.org/10.4172/2161-0460.1000209.
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  - Roses, Allen D., P Anthony Akkari, Ornit Chiba-Falek, Michael W. Lutz, William Kirby Gottschalk, Ann Marie Saunders, Bob Saul, Scott Sundseth, and Daniel Burns. “Structural variants can be more informative for disease diagnostics, prognostics and translation than current SNP mapping and exon sequencing.” Expert Opin Drug Metab Toxicol 12, no. 2 (2016): 135–47. https://doi.org/10.1517/17425255.2016.1133586.
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  - Tagliafierro, Lidia, Kirsten Bonawitz, Omolara C. Glenn, and Ornit Chiba-Falek. “Gene Expression Analysis of Neurons and Astrocytes Isolated by Laser Capture Microdissection from Frozen Human Brain Tissues.” Front Mol Neurosci 9 (2016): 72. https://doi.org/10.3389/fnmol.2016.00072.
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  - Lutz, Michael W., Robert Saul, Colton Linnertz, Omolara-Chinue Glenn, Allen D. Roses, and Ornit Chiba-Falek. “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.” Alzheimers Dement 11, no. 10 (October 2015): 1133–43. https://doi.org/10.1016/j.jalz.2015.05.011.
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  - Gottschalk, William K., Michael W. Lutz, Yu Ting He, Ann M. Saunders, Daniel K. Burns, Allen D. Roses, and Ornit Chiba-Falek. “The Broad Impact of TOM40 on Neurodegenerative Diseases in Aging.” J Parkinsons Dis Alzheimers Dis 1, no. 1 (November 2014). https://doi.org/10.13188/2376-922X.1000003.
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  - Roses, Allen D., Michael W. Lutz, Ann M. Saunders, Dmitry Goldgaber, Robert Saul, Scott S. Sundseth, P Anthony Akkari, et al. “African-American TOMM40'523-APOE haplotypes are admixture of West African and Caucasian alleles.” Alzheimers Dement 10, no. 6 (November 2014): 592-601.e2. https://doi.org/10.1016/j.jalz.2014.06.009.
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  - Linnertz, Colton, Michael W. Lutz, John F. Ervin, Jawara Allen, Natalie R. Miller, Kathleen A. Welsh-Bohmer, Allen D. Roses, and Ornit Chiba-Falek. “The genetic contributions of SNCA and LRRK2 genes to Lewy Body pathology in Alzheimer's disease.” Hum Mol Genet 23, no. 18 (September 15, 2014): 4814–21. https://doi.org/10.1093/hmg/ddu196.
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  - Linnertz, Colton, Lauren Anderson, William Gottschalk, Donna Crenshaw, Michael W. Lutz, Jawara Allen, Sunita Saith, et al. “The cis-regulatory effect of an Alzheimer's disease-associated poly-T locus on expression of TOMM40 and apolipoprotein E genes.” Alzheimers Dement 10, no. 5 (September 2014): 541–51. https://doi.org/10.1016/j.jalz.2013.08.280.
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  - Chen, Jia, Wei Li, Tao Zhang, Yan-jiang Wang, Xiao-jiang Jiang, and Zhi-qiang Xu. “Glucocerebrosidase gene mutations associated with Parkinson's disease: a meta-analysis in a Chinese population.” Plos One 9, no. 12 (2014): e115747. https://doi.org/10.1371/journal.pone.0115747.
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  - Davies, G., S. E. Harris, C. A. Reynolds, A. Payton, H. M. Knight, D. C. Liewald, L. M. Lopez, et al. “A genome-wide association study implicates the APOE locus in nonpathological cognitive ageing.” Mol Psychiatry 19, no. 1 (January 2014): 76–87. https://doi.org/10.1038/mp.2012.159.
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  - Browndyke, Jeffrey N., Kelly Giovanello, Jeffrey Petrella, Kathleen Hayden, Ornit Chiba-Falek, Karen A. Tucker, James R. Burke, and Kathleen A. Welsh-Bohmer. “Phenotypic regional functional imaging patterns during memory encoding in mild cognitive impairment and Alzheimer's disease.” Alzheimers Dement 9, no. 3 (May 2013): 284–94. https://doi.org/10.1016/j.jalz.2011.12.006.
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  - Smith, Patrick J., Anna C. Need, Elizabeth T. Cirulli, Ornit Chiba-Falek, and Deborah K. Attix. “A comparison of the Cambridge Automated Neuropsychological Test Battery (CANTAB) with "traditional" neuropsychological testing instruments.” J Clin Exp Neuropsychol 35, no. 3 (2013): 319–28. https://doi.org/10.1080/13803395.2013.771618.
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  - Chiba-Falek, Ornit, Colton Linnertz, John Guyton, Stephen D. Gardner, Allen D. Roses, Jeanette J. McCarthy, and Keyur Patel. “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): 1911–20. https://doi.org/10.1007/s00439-012-1220-0.
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  - Hayden, Kathleen M., Jill M. McEvoy, Colton Linnertz, Deborah Attix, Maragatha Kuchibhatla, Ann M. Saunders, Michael W. Lutz, Kathleen A. Welsh-Bohmer, Allen D. Roses, and Ornit Chiba-Falek. “A homopolymer polymorphism in the TOMM40 gene contributes to cognitive performance in aging.” Alzheimers Dement 8, no. 5 (September 2012): 381–88. https://doi.org/10.1016/j.jalz.2011.10.005.
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  - McCarthy, Jeanette J., Sunita Saith, Colton Linnertz, James R. Burke, Christine M. Hulette, Kathleen A. Welsh-Bohmer, and Ornit Chiba-Falek. “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. https://doi.org/10.1016/j.neurobiolaging.2010.10.004.
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  - Linnertz, Colton, Ann M. Saunders, Michael W. Lutz, Donna M. Crenshaw, Iris Grossman, Daniel K. Burns, Keith E. Whitfield, et al. “Characterization of the poly-T variant in the TOMM40 gene in diverse populations.” Plos One 7, no. 2 (2012): e30994. https://doi.org/10.1371/journal.pone.0030994.
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  - Cirulli, Elizabeth T., Deborah K. Attix, Patrick J. Smith, Ornit Chiba-Falek, Tracy O’Connor Pennuto, Kristen N. Linney, and David B. Goldstein. “Contribution of pastimes and testing strategies to the performance of healthy volunteers on cognitive tests.” Clin Neuropsychol 25, no. 5 (July 2011): 778–98. https://doi.org/10.1080/13854046.2011.578587.
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  - McCarthy, Jeanette J., Colton Linnertz, Laura Saucier, James R. Burke, Christine M. Hulette, Kathleen A. Welsh-Bohmer, and Ornit Chiba-Falek. “The effect of SNCA 3' region on the levels of SNCA-112 splicing variant.” Neurogenetics 12, no. 1 (February 2011): 59–64. https://doi.org/10.1007/s10048-010-0263-4.
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  - Chiba-Falek, Ornit, Marshall Nichols, Sunil Suchindran, John Guyton, Geoffrey S. Ginsburg, Elizabeth Barrett-Connor, and Jeanette J. McCarthy. “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.” Bmc Med Genet 11 (January 19, 2010): 9. https://doi.org/10.1186/1471-2350-11-9.
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  - Chiba Falek, O., M. Nichols, S. Suchindran, J. R. Guyton, G. S. Ginsburg, E. Barrett Connor, and J. J. McCarthy. “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.
  - Heinzen, Erin L., Anna C. Need, Kathleen M. Hayden, Ornit Chiba-Falek, Allen D. Roses, Warren J. Strittmatter, James R. Burke, Christine M. Hulette, Kathleen A. Welsh-Bohmer, and David B. Goldstein. “Genome-wide scan of copy number variation in late-onset Alzheimer's disease.” J Alzheimers Dis 19, no. 1 (2010): 69–77. https://doi.org/10.3233/JAD-2010-1212.
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  - Linnertz, Colton, Laura Saucier, Dongliang Ge, Kenneth D. Cronin, James R. Burke, Jeffrey N. Browndyke, Christine M. Hulette, Kathleen A. Welsh-Bohmer, and Ornit Chiba-Falek. “Genetic regulation of alpha-synuclein mRNA expression in various human brain tissues.” Plos One 4, no. 10 (October 16, 2009): e7480. https://doi.org/10.1371/journal.pone.0007480.
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  - Cronin, Kenneth D., Dongliang Ge, Paul Manninger, Colton Linnertz, Anna Rossoshek, Bonnie M. Orrison, David J. Bernard, et al. “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): 3274–85. https://doi.org/10.1093/hmg/ddp265.
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  - Chiba-Falek, O., G. J. Lopez, and R. L. Nussbaum. “Reply: Expression of α-synuclein mRNA in Parkinson's disease [3].” Movement Disorders 22, no. 7 (May 15, 2007): 1057. https://doi.org/10.1002/mds.21498.
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  - Chiba-Falek, Ornit, Grisel J. Lopez, and Robert L. Nussbaum. “Levels of alpha-synuclein mRNA in sporadic Parkinson disease patients.” Mov Disord 21, no. 10 (October 2006): 1703–8. https://doi.org/10.1002/mds.21007.
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  - Chiba-Falek, Ornit, Jeffrey A. Kowalak, Mark E. Smulson, and Robert L. Nussbaum. “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): 478–92. https://doi.org/10.1086/428655.
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  - Nissim-Rafinia, Malka, Micha Aviram, Scott H. Randell, Liat Shushi, Efrat Ozeri, Ornit Chiba-Falek, Ofer Eidelman, Harvey B. Pollard, James R. Yankaskas, and Batsheva Kerem. “Restoration of the cystic fibrosis transmembrane conductance regulator function by splicing modulation.” Embo Rep 5, no. 11 (November 2004): 1071–77. https://doi.org/10.1038/sj.embor.7400273.
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  - Chiba-Falek, Ornit, Jeffrey W. Touchman, and Robert L. Nussbaum. “Functional analysis of intra-allelic variation at NACP-Rep1 in the alpha-synuclein gene.” Hum Genet 113, no. 5 (October 2003): 426–31. https://doi.org/10.1007/s00439-003-1002-9.
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  - Chiba-Falek, O., and R. L. Nussbaum. “Regulation of alpha-synuclein expression: implications for Parkinson's disease.” Cold Spring Harb Symp Quant Biol 68 (2003): 409–15. https://doi.org/10.1101/sqb.2003.68.409.
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  - Chiba-Falek, O., and R. L. Nussbaum. “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.” Hum Mol Genet 10, no. 26 (December 15, 2001): 3101–9. https://doi.org/10.1093/hmg/10.26.3101.
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  - Touchman, J. W., A. Dehejia, O. Chiba-Falek, D. E. Cabin, J. R. Schwartz, B. M. Orrison, M. H. Polymeropoulos, and R. L. Nussbaum. “Human and mouse alpha-synuclein genes: comparative genomic sequence analysis and identification of a novel gene regulatory element.” Genome Res 11, no. 1 (January 2001): 78–86. https://doi.org/10.1101/gr.165801.
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  - Chiba-Falek, O., B. M. Orrison, J. W. Touchman, A. Dehejia, M. H. Polymeropoulos, and R. L. Nussbaum. “Analysis of the human alpha-synuclein promoter.” American Journal of Human Genetics 67, no. 4 (October 1, 2000): 194–194.
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  - Nissim-Rafinia, M., O. Chiba-Falek, and B. Kerem. “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 1, 2000): 38–38.
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  - Nissim-Rafinia, M., O. Chiba-Falek, G. Sharon, A. Boss, and B. Kerem. “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): 1771–78. https://doi.org/10.1093/hmg/9.12.1771.
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  - Chiba-Falek, O., E. Kerem, M. Nissim-Raffinia, A. Tai, M. Aviram, A. Augarten, and B. Kerem. “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 1, 1999): A288–A288.
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  - Nissim-Rafinia, M., O. Chiba-Falek, E. Kerem, and B. Kerem. “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 1, 1999): A502–A502.
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  - Chiba-Falek, O., R. B. Parad, E. Kerem, and B. Kerem. “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. https://doi.org/10.1164/ajrccm.159.6.9808012.
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  - Chiba-Falek, O., E. Kerem, T. Shoshani, M. Aviram, A. Augarten, L. Bentur, A. Tal, E. Tullis, A. Rahat, and B. Kerem. “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): 276–83. https://doi.org/10.1006/geno.1998.5517.
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  - Chiba-Falek, O., M. Nissim-Rafinia, Z. Argaman, A. Genem, I. Moran, E. Kerem, and B. Kerem. “Screening of CFTR mutations in an isolated population: identification of carriers and patients.” Eur J Hum Genet 6, no. 2 (March 1998): 181–84. https://doi.org/10.1038/sj.ejhg.5200174.
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  - Kerem, E., N. Rave-Harel, A. Augarten, I. Madgar, M. Nissim-Rafinia, Y. Yahav, R. Goshen, et al. “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): 1914–20. https://doi.org/10.1164/ajrccm.155.6.9196095.
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  - Kerem, B., O. Chiba-Falek, and E. Kerem. “Cystic fibrosis in Jews: frequency and mutation distribution.” Genet Test 1, no. 1 (1997): 35–39. https://doi.org/10.1089/gte.1997.1.35.
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  - Rave-Harel, N., I. Madgar, R. Goshen, M. Nissim-Rafinia, A. Ziadni, A. Rahat, O. Chiba, Y. M. Kalman, C. Brautbar, and D. Levinson. “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): 1359–66.
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- Conference Papers
  - Chiba-Falek, Ornit, Lidia Tagliafierro, Ekaterina Ilich, Ahila Sriskanda, and Boris Kantor. “The New Epigenome-Editing Approach for Targeting Dysregulated SNCA Expression: Novel Target Validation for Next-Generation Drug Discovery.” In Molecular Therapy, 27:35–35. CELL PRESS, 2019.
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  - Kantor, Boris, Ekaterina Ilich, Lidia Tagliafierro, and Ornit Chiba-Falek. “Integrase-Deficient Lentiviral Vector for Efficient CRISPR/Cas9-Mediated Gene and Epigenome-Editing Applications.” In Molecular Therapy, 27:101–101. CELL PRESS, 2019.
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  - Savage, Jeanne E., Philip R. Jansen, Sven Stringer, Kyoko Watanabe, Julien Bryois, Christiaan A. de Leeuw, Mats Nagel, et al. “GWAS meta-analysis (N=279,930) identifies new genes and functional links to general cognitive ability.” In Human Genomics, Vol. 12. BIOMED CENTRAL LTD, 2018.
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  - Davies, Gail, Sarah Harris, Chandra Reynolds, Antony Payton, David Liewald, Lorna Lopez, Michelle Luciano, et al. “A Genome-wide association study of non-pathological cognitive ageing.” In Behavior Genetics, 42:927–927. SPRINGER, 2012.
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