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Marcelo A. Nobrega

InstitutionUniversity of Chicago
DepartmentHuman Genetics
AddressChicago IL 60637
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    We are interested in mechanistically deciphering how genetic variation increase the risk of human diseases. We are particularly interested in understanding how noncoding genetic variants, most uncovered by Genome-wide Association Studies are associated with disease etiology. The underlying assumption is that a majority of these variants impart their effects by altering the quantitative, temporal, and/or spatial properties of long-range cis-regulatory enhancers. Several challenges hinder the mechanistically follow-up of these GWAS, including 1) identification of the causal variant(s) associated with the disease trait, 2) characterization of the spatial and temporal properties of the enhancer(s) harboring the causal variant(s), 3) establishing differential regulatory properties of the allelic variants of the enhancer(s), 4) identification of the causal gene(s) connected with the enhancer(s) of interest, and 5) characterization of the molecular, cellular, and systems-level phenotypes associated with mis-regulation of the target gene(s). Our lab has been developing pipelines to tackle all these challenges, resulting in integrated experimental and computational strategies to uncover the mechanisms linking regulatory variants to human disease.

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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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    PMC Citations indicate the number of times the publication was cited by articles in PubMed Central, and the Altmetric score represents citations in news articles and social media. (Note that publications are often cited in additional ways that are not shown here.) Fields are based on how the National Library of Medicine (NLM) classifies the publication's journal and might not represent the specific topic of the publication. Translation tags are based on the publication type and the MeSH terms NLM assigns to the publication. Some publications (especially newer ones and publications not in PubMed) might not yet be assigned Field or Translation tags.) Click a Field or Translation tag to filter the publications.
    1. Crean AJ, Senior AM, Freire T, Clark TD, Mackay F, Austin G, Pulpitel TJ, Nobrega MA, Barrès R, Simpson SJ. Paternal dietary macronutrient balance and energy intake drive metabolic and behavioral differences among offspring. Nat Commun. 2024 Apr 06; 15(1):2982. PMID: 38582785; PMCID: PMC10998877.
    2. Farris KM, Senior AM, Sobreira DR, Mitchell RM, Weber ZT, Ingerslev LR, Barrès R, Simpson SJ, Crean AJ, Nobrega MA. Dietary macronutrient composition impacts gene regulation in adipose tissue. Commun Biol. 2024 Feb 16; 7(1):194. PMID: 38365885; PMCID: PMC10873408.
    3. Li J, Zhu J, Gray O, Sobreira DR, Wu D, Huang RT, Miao B, Sakabe NJ, Krause MD, Kaikkonen MU, Romanoski CE, Nobrega MA, Fang Y. Mechanosensitive super-enhancers regulate genes linked to atherosclerosis in endothelial cells. J Cell Biol. 2024 03 04; 223(3). PMID: 38231044; PMCID: PMC10794123.
      Citations:    Fields:    Translation:HumansCells
    4. Nobrega M, Farris K, Andersen E, Donkin I, Versteyhe S, Kristiansen VB, Simpson S, Barres R. Splicing across adipocyte differentiation is highly dynamic and impacted by metabolic phenotype. Res Sq. 2023 Oct 31. PMID: 37961160; PMCID: PMC10635361.
    5. Glunk V, Laber S, Sinnott-Armstrong N, Sobreira DR, Strobel SM, Batista TM, Kubitz P, Moud BN, Ebert H, Huang Y, Brandl B, Garbo G, Honecker J, Stirling DR, Abdennur N, Calabuig-Navarro V, Skurk T, Ocvirk S, Stemmer K, Cimini BA, Carpenter AE, Dankel SN, Lindgren CM, Hauner H, Nobrega MA, Claussnitzer M. A non-coding variant linked to metabolic obesity with normal weight affects actin remodelling in subcutaneous adipocytes. Nat Metab. 2023 05; 5(5):861-879. PMID: 37253881.
      Citations: 2     Fields:    Translation:HumansAnimalsCells
    6. Liu X, Aneas I, Sakabe N, Anderson RL, Billstrand C, Paz C, Kaur H, Furner B, Choi S, Prichina AY, Enninga EAL, Dong H, Murtha A, Crawford GE, Kessler JA, Grobman W, Nobrega MA, Rana S, Ober C. Single cell profiling at the maternal-fetal interface reveals a deficiency of PD-L1+?non-immune cells in human spontaneous preterm labor. Sci Rep. 2023 05 16; 13(1):7903. PMID: 37193763; PMCID: PMC10188528.
      Citations:    Fields:    Translation:HumansCells
    7. Yang R, Feng X, Arias-Cavieres A, Mitchell RM, Polo A, Hu K, Zhong R, Qi C, Zhang RS, Westneat N, Portillo CA, Nobrega MA, Hansel C, Garcia Iii AJ, Zhang X. Upregulation of SYNGAP1 expression in mice and human neurons by redirecting alternative splicing. Neuron. 2023 05 17; 111(10):1637-1650.e5. PMID: 36917980; PMCID: PMC10198817.
      Citations: 7     Fields:    Translation:HumansAnimalsCells
    8. Washington C, Dapas M, Biddanda A, Magnaye KM, Aneas I, Helling BA, Szczesny B, Boorgula MP, Taub MA, Kenny E, Mathias RA, Barnes KC, CAAPA, Khurana Hershey GK, Kercsmar CM, Gereige JD, Makhija M, Gruchalla RS, Gill MA, Liu AH, Rastogi D, Busse W, Gergen PJ, Visness CM, Gold DR, Hartert T, Johnson CC, Lemanske RF, Martinez FD, Miller RL, Ownby D, Seroogy CM, Wright AL, Zoratti EM, Bacharier LB, Kattan M, O'Connor GT, Wood RA, Nobrega MA, Altman MC, Jackson DJ, Gern JE, McKennan CG, Ober C. African-specific alleles modify risk for asthma at the 17q12-q21 locus in African Americans. Genome Med. 2022 09 29; 14(1):112. PMID: 36175932; PMCID: PMC9520885.
      Citations: 2     Fields:    Translation:Humans
    9. Chung J, Das A, Sun X, Leung YY, Igartua C, Mozaffari S, Chou YF, Thiagalingam S, Mez J, Zhang X, Jun GR, Stein TD, Kunkle BW, Martin ER, Pericak-Vance MA, Mayeux R, Haines JL, Schellenberg GD, Nobrega MA, Lunetta KL, Pinto JM, Wang LS, Ober C, Farrer LA, Sobreira DR. Genome-wide association and multi-omics studies identify MGMT as a novel risk gene for Alzheimer's disease among women. Alzheimers Dement. 2022 Jun 30. PMID: 35770850; PMCID: PMC9800643.
      Citations: 11     Fields:    
    10. Tadros R, Bosada FM, Tessadori F, van Weerd JH, Woudstra OI, Tjong FVY, Lahrouchi N, Bajolle F, Cordell HJ, Agopian AJ, Blue GM, Barge-Schaapveld DQCM, Gewillig M, Lodder EM, Barnett P, Ilgun A, Beekman L, van Duijvenboden K, Bokenkamp R, KORA-Study Group, Vliegen HW, Konings TC, van Melle JP, van Dijk APJ, van Kimmenade RRJ, Roos-Hesselink JW, Sieswerda GT, Meijboom F, Abdul-Khaliq H, Dittrich S, Moosmann J, Riede FT, Schubert S, Galan P, Al-Chalabi A, Shaw CE, Shaw PJ, Morrison KE, Veldink JH, van den Berg LH, Evans S, Nobrega MA, Aneas I, Radivojkov-Blagojevic M, Meitinger T, Oechslin E, Mondal T, Bergin L, Smythe JF, Altamirano-Diaz L, Lougheed J, Bouma BJ, Kline J, Bassett AS, van der Palen RLF, Clur SB, Breckpot J, Kerstjens-Frederikse WS, Winlaw DS, Bauer UMM, Mital S, Goldmuntz E, Keavney B, Mulder BJ, Tanck MWT, Bakkers J, Christoffels VM, Boogerd CJ, Postma AV, Bezzina CR, Škoric-Milosavljevic D, Preuss C, Müller-Nurasyid M, Berger F, Hitz MP, Lathrop M, Munter HM, Chaix MA, Andelfinger G, Bouvagnet P, Bonnet D. Common Genetic Variants Contribute to Risk of Transposition of the Great Arteries. Circ Res. 2022 01 21; 130(2):166-180. PMID: 34886679; PMCID: PMC8768504.
      Citations: 8     Fields:    Translation:HumansAnimalsCells
    11. Bai T, Peng CY, Aneas I, Sakabe N, Requena DF, Billstrand C, Nobrega M, Ober C, Parast M, Kessler JA. Establishment of human induced trophoblast stem-like cells from term villous cytotrophoblasts. Stem Cell Res. 2021 10; 56:102507. PMID: 34454392; PMCID: PMC8551050.
      Citations: 11     Fields:    Translation:HumansCells
    12. Joslin AC, Zhang Q, Williamson I, Hansen GT, Farris KM, Sakabe NJ, Sinnott-Armstrong N, Bozek G, Jensen-Cody SO, Flippo KH, Ober C, Bickmore WA, Potthoff M, Chen M, Claussnitzer M, Aneas I, Sobreira DR, Nóbrega MA. Extensive pleiotropism and allelic heterogeneity mediate metabolic effects of IRX3 and IRX5. Science. 2021 06 04; 372(6546):1085-1091. PMID: 34083488; PMCID: PMC8386003.
      Citations: 40     Fields:    Translation:HumansAnimalsCells
    13. Cheung VC, Peng CY, Marinic M, Sakabe NJ, Aneas I, Lynch VJ, Ober C, Nobrega MA, Kessler JA. Pluripotent stem cell-derived endometrial stromal fibroblasts in a cyclic, hormone-responsive, coculture model of human decidua. Cell Rep. 2021 05 18; 35(7):109138. PMID: 34010658.
      Citations: 19     Fields:    Translation:HumansCells
    14. Gacita AM, Fullenkamp DE, Ohiri J, Pottinger T, Puckelwartz MJ, Nobrega MA, McNally EM. Genetic Variation in Enhancers Modifies Cardiomyopathy Gene Expression and Progression. Circulation. 2021 03 30; 143(13):1302-1316. PMID: 33478249; PMCID: PMC8009836.
      Citations: 20     Fields:    Translation:HumansCells
    15. Helling BA, Hansen GT, Sakabe NJ, Luo K, Billstrand C, Laxman B, Nicolae RI, Nicolae DL, Bochkov YA, Gern JE, Nobrega MA, White SR, Ober C, Sobreira DR. Altered transcriptional and chromatin responses to rhinovirus in bronchial epithelial cells from adults with asthma. Commun Biol. 2020 11 13; 3(1):678. PMID: 33188283; PMCID: PMC7666152.
      Citations: 11     Translation:HumansCells
    16. Gacita AM, Dellefave-Castillo L, Page PGT, Barefield DY, Wasserstrom JA, Puckelwartz MJ, Nobrega MA, McNally EM. Altered Enhancer and Promoter Usage Leads to Differential Gene Expression in the Normal and Failed Human Heart. Circ Heart Fail. 2020 10; 13(10):e006926. PMID: 32993371; PMCID: PMC7577963.
      Citations: 9     Fields:    Translation:HumansCells
    17. Sadovsky Y, Mesiano S, Burton GJ, Lampl M, Murray JC, Freathy RM, Mahadevan-Jansen A, Moffett A, Price ND, Wise PH, Wildman DE, Snyderman R, Paneth N, Capra JA, Nobrega MA, Barak Y, Muglia LJ, Burroughs Wellcome Fund Pregnancy Think Tank Working Group. Advancing human health in the decade ahead: pregnancy as a key window for discovery: A Burroughs Wellcome Fund Pregnancy Think Tank. Am J Obstet Gynecol. 2020 09; 223(3):312-321. PMID: 32565236; PMCID: PMC7303037.
      Citations: 6     Fields:    Translation:Humans
    18. Burnicka-Turek O, Broman MT, Steimle JD, Boukens BJ, Petrenko NB, Ikegami K, Nadadur RD, Qiao Y, Arnolds DE, Yang XH, Patel VV, Nobrega MA, Efimov IR, Moskowitz IP. Transcriptional Patterning of the Ventricular Cardiac Conduction System. Circ Res. 2020 07 17; 127(3):e94-e106. PMID: 32290757; PMCID: PMC8328577.
      Citations: 14     Fields:    Translation:HumansAnimalsCells
    19. van Ouwerkerk AF, Bosada FM, van Duijvenboden K, Hill MC, Montefiori LE, Scholman KT, Liu J, de Vries AAF, Boukens BJ, Ellinor PT, Efimov IR, Nobrega MA, Barnett P, Martin JF, Christoffels VM, Goumans MJTH. Identification of atrial fibrillation associated genes and functional non-coding variants. Nat Commun. 2019 10 18; 10(1):4755. PMID: 31628324; PMCID: PMC6802215.
      Citations: 38     Fields:    Translation:HumansAnimalsCells
    20. Srivastava R, Rolyan H, Xie Y, Li N, Bhat N, Hong L, Esteghamat F, Adeniran A, Geirsson A, Zhang J, Ge G, Nobrega M, Martin KA, Mani A. TCF7L2 (Transcription Factor 7-Like 2) Regulation of GATA6 (GATA-Binding Protein 6)-Dependent and -Independent Vascular Smooth Muscle Cell Plasticity and Intimal Hyperplasia. Arterioscler Thromb Vasc Biol. 2019 02; 39(2):250-262. PMID: 30567484; PMCID: PMC6365015.
      Citations: 13     Fields:    Translation:AnimalsCells
    21. Montefiori LE, Nobrega MA. Gene therapy for pathologic gene expression. Science. 2019 01 18; 363(6424):231-232. PMID: 30655431.
      Citations:    Fields:    Translation:HumansCells
    22. Boogerd CJ, Zhu X, Aneas I, Sakabe N, Zhang L, Sobreira DR, Montefiori L, Bogomolovas J, Joslin AC, Zhou B, Chen J, Nobrega MA, Evans SM. Tbx20 Is Required in Mid-Gestation Cardiomyocytes and Plays a Central Role in Atrial Development. Circ Res. 2018 08 03; 123(4):428-442. PMID: 29903739; PMCID: PMC6092109.
      Citations: 26     Fields:    Translation:AnimalsCells
    23. Montefiori LE, Sobreira DR, Sakabe NJ, Aneas I, Joslin AC, Hansen GT, Bozek G, Moskowitz IP, McNally EM, Nóbrega MA. A promoter interaction map for cardiovascular disease genetics. Elife. 2018 07 10; 7. PMID: 29988018; PMCID: PMC6053306.
      Citations: 78     Fields:    Translation:HumansCells
    24. Montefiori L, Hernandez L, Zhang Z, Gilad Y, Ober C, Crawford G, Nobrega M, Jo Sakabe N. Reducing mitochondrial reads in ATAC-seq using CRISPR/Cas9. Sci Rep. 2017 05 26; 7(1):2451. PMID: 28550296; PMCID: PMC5446398.
      Citations: 29     Fields:    Translation:HumansCells
    25. Nicodemus-Johnson J, Myers RA, Sakabe NJ, Sobreira DR, Hogarth DK, Naureckas ET, Sperling AI, Solway J, White SR, Nobrega MA, Nicolae DL, Gilad Y, Ober C. DNA methylation in lung cells is associated with asthma endotypes and genetic risk. JCI Insight. 2016 12 08; 1(20):e90151. PMID: 27942592; PMCID: PMC5139904.
      Citations: 73     Fields:    Translation:HumansCells
    26. Nóbrega MA, Gómez-Skarmeta JL. Editorial. Semin Cell Dev Biol. 2016 09; 57:1. PMID: 27499506.
      Citations:    Fields:    Translation:HumansCells
    27. Boogerd CJ, Aneas I, Sakabe N, Dirschinger RJ, Cheng QJ, Zhou B, Chen J, Nobrega MA, Evans SM. Probing chromatin landscape reveals roles of endocardial TBX20 in septation. J Clin Invest. 2016 08 01; 126(8):3023-35. PMID: 27348591; PMCID: PMC4966318.
      Citations: 19     Fields:    Translation:HumansAnimalsCells
    28. Aneas I, Vielmas E, Nobrega MA, Gómez-Marín C, Tena JJ, Acemel RD, López-Mayorga M, Naranjo S, de la Calle-Mustienes E, Maeso I, Beccari L, Bovolenta P, Carvajal J, Gómez-Skarmeta JL. Evolutionary comparison reveals that diverging CTCF sites are signatures of ancestral topological associating domains borders. Proc Natl Acad Sci U S A. 2015 Jun 16; 112(24):7542-7. PMID: 26034287; PMCID: PMC4475986.
      Citations: 81     Fields:    Translation:HumansAnimalsCells
    29. Stowe J, Aneas I, Sakabe N, Cattaneo P, Henderson L, Kilberg MS, Johnson RS, Chen J, McCulloch AD, Nobrega MA, Evans SM, Zambon AC, Guimarães-Camboa N. HIF1a Represses Cell Stress Pathways to Allow Proliferation of Hypoxic Fetal Cardiomyocytes. Dev Cell. 2015 Jun 08; 33(5):507-21. PMID: 26028220; PMCID: PMC4509618.
      Citations: 75     Fields:    Translation:AnimalsCells
    30. Janissen R, Murillo DM, Niza B, Sahoo PK, Nobrega MM, Cesar CL, Temperini ML, Carvalho HF, de Souza AA, Cotta MA. Spatiotemporal distribution of different extracellular polymeric substances and filamentation mediate Xylella fastidiosa adhesion and biofilm formation. Sci Rep. 2015 Apr 20; 5:9856. PMID: 25891045; PMCID: PMC4402645.
      Citations: 22     Fields:    Translation:Cells
    31. Chapman KM, Medrano GA, Jaichander P, Chaudhary J, Waits AE, Nobrega MA, Hotaling JM, Ober C, Hamra FK. Targeted Germline Modifications in Rats Using CRISPR/Cas9 and Spermatogonial Stem Cells. Cell Rep. 2015 Mar 24; 10(11):1828-35. PMID: 25772367; PMCID: PMC4376630.
      Citations: 48     Fields:    Translation:AnimalsCells
    32. Mutskov V, Khalyfa A, Wang Y, Carreras A, Nobrega MA, Gozal D. Early-life physical activity reverses metabolic and Foxo1 epigenetic misregulation induced by gestational sleep disturbance. Am J Physiol Regul Integr Comp Physiol. 2015 Mar 01; 308(5):R419-30. PMID: 25568076; PMCID: PMC4346758.
      Citations: 6     Fields:    Translation:Animals
    33. Ferrara AM, Pappa T, Fu J, Brown CD, Peterson A, Moeller LC, Wyne K, White KP, Pluzhnikov A, Trubetskoy V, Nobrega M, Weiss RE, Dumitrescu AM, Refetoff S. A novel mechanism of inherited TBG deficiency: mutation in a liver-specific enhancer. J Clin Endocrinol Metab. 2015 Jan; 100(1):E173-81. PMID: 25361180; PMCID: PMC4283011.
      Citations: 5     Fields:    Translation:HumansCells
    34. Bailey KA, Savic D, Zielinski M, Park SY, Wang LJ, Witkowski P, Brady M, Hara M, Bell GI, Nobrega MA. Evidence of non-pancreatic beta cell-dependent roles of Tcf7l2 in the regulation of glucose metabolism in mice. Hum Mol Genet. 2015 Mar 15; 24(6):1646-54. PMID: 25398947; PMCID: PMC4381752.
      Citations: 19     Fields:    Translation:HumansAnimalsCells
    35. Park SY, Su J, Bailey K, Rung J, Nobrega M, Zhou Y, Ottosson-Laakso E, Shcherbina L, Oskolkov N, Zhang E, Thevenin T, Fadista J, Bennet H, Vikman P, Wierup N, Fex M, Wollheim C, Renström E, Groop L, Hansson O. TCF7L2 is a master regulator of insulin production and processing. Hum Mol Genet. 2014 Dec 15; 23(24):6419-31. PMID: 25015099; PMCID: PMC4240194.
      Citations: 78     Fields:    Translation:HumansAnimalsCells
    36. van den Boogaard M, Smemo S, Burnicka-Turek O, Arnolds DE, van de Werken HJ, Klous P, McKean D, Muehlschlegel JD, Moosmann J, Toka O, Yang XH, Koopmann TT, Adriaens ME, Bezzina CR, de Laat W, Seidman C, Seidman JG, Christoffels VM, Nobrega MA, Barnett P, Moskowitz IP. A common genetic variant within SCN10A modulates cardiac SCN5A expression. J Clin Invest. 2014 Apr; 124(4):1844-52. PMID: 24642470; PMCID: PMC3973109.
      Citations: 96     Fields:    Translation:HumansAnimalsCells
    37. Zhou J, Wu J, Li B, Liu D, Yu J, Yan X, Zheng S, Wang J, Zhang L, Zhang L, He F, Li Q, Chen A, Zhang Y, Zhao X, Guan Y, Zhao X, Yan J, Ni J, Nobrega MA, Delwel R, Valk PJ, Kumar A, Xie L, Tenen DG, Huang G, Wang QF, Löwenberg B. PU.1 is essential for MLL leukemia partially via crosstalk with the MEIS/HOX pathway. Leukemia. 2014 Jul; 28(7):1436-48. PMID: 24445817; PMCID: PMC4410691.
      Citations: 28     Fields:    Translation:HumansAnimalsCells
    38. Sakabe NJ, Nobrega MA. Beyond the ENCODE project: using genomics and epigenomics strategies to study enhancer evolution. Philos Trans R Soc Lond B Biol Sci. 2013 Dec 19; 368(1632):20130022. PMID: 24218635; PMCID: PMC3826496.
      Citations: 12     Fields:    Translation:Cells
    39. Wang QF, Li YJ, Dong JF, Li B, Kaberlein JJ, Zhang L, Arimura FE, Luo RT, Ni J, He F, Wu J, Mattison R, Zhou J, Wang CZ, Prabhakar S, Nobrega MA, Thirman MJ. Regulation of MEIS1 by distal enhancer elements in acute leukemia. Leukemia. 2014 Jan; 28(1):138-46. PMID: 24022755; PMCID: PMC5774621.
      Citations: 13     Fields:    Translation:HumansAnimalsCells
    40. Pennacchio LA, Bickmore W, Dean A, Nobrega MA, Bejerano G. Enhancers: five essential questions. Nat Rev Genet. 2013 04; 14(4):288-95. PMID: 23503198; PMCID: PMC4445073.
      Citations: 249     Fields:    Translation:HumansCells
    41. Nobrega MA. TCF7L2 and glucose metabolism: time to look beyond the pancreas. Diabetes. 2013 Mar; 62(3):706-8. PMID: 23431017; PMCID: PMC3581232.
      Citations: 16     Fields:    Translation:AnimalsCells
    42. Fu Y, Jia G, Pang X, Wang RN, Wang X, Li CJ, Smemo S, Dai Q, Bailey KA, Nobrega MA, Han KL, Cui Q, He C. FTO-mediated formation of N6-hydroxymethyladenosine and N6-formyladenosine in mammalian RNA. Nat Commun. 2013; 4:1798. PMID: 23653210; PMCID: PMC3658177.
      Citations: 194     Fields:    Translation:HumansAnimalsCells
    43. Savic D, Park SY, Bailey KA, Bell GI, Nobrega MA. In vitro scan for enhancers at the TCF7L2 locus. Diabetologia. 2013 Jan; 56(1):121-5. PMID: 23011354; PMCID: PMC3525810.
      Citations: 11     Fields:    Translation:HumansAnimalsCells
    44. Arnolds DE, Liu F, Fahrenbach JP, Kim GH, Schillinger KJ, Smemo S, McNally EM, Nobrega MA, Patel VV, Moskowitz IP. TBX5 drives Scn5a expression to regulate cardiac conduction system function. J Clin Invest. 2012 Jul; 122(7):2509-18. PMID: 22728936; PMCID: PMC3386825.
      Citations: 76     Fields:    Translation:AnimalsCells
    45. Distler MG, Plant LD, Sokoloff G, Hawk AJ, Aneas I, Wuenschell GE, Termini J, Meredith SC, Nobrega MA, Palmer AA. Glyoxalase 1 increases anxiety by reducing GABAA receptor agonist methylglyoxal. J Clin Invest. 2012 Jun; 122(6):2306-15. PMID: 22585572; PMCID: PMC3366407.
      Citations: 61     Fields:    Translation:Animals
    46. Savic D, Bell GI, Nobrega MA. An in vivo cis-regulatory screen at the type 2 diabetes associated TCF7L2 locus identifies multiple tissue-specific enhancers. PLoS One. 2012; 7(5):e36501. PMID: 22590553; PMCID: PMC3349716.
      Citations: 11     Fields:    Translation:AnimalsCells
    47. Smemo S, Campos LC, Moskowitz IP, Pereira AC, Nobrega MA, Krieger JE. Regulatory variation in a TBX5 enhancer leads to isolated congenital heart disease. Hum Mol Genet. 2012 Jul 15; 21(14):3255-63. PMID: 22543974; PMCID: PMC3384386.
      Citations: 96     Fields:    Translation:HumansAnimalsCells
    48. Auton A, Fledel-Alon A, Pfeifer S, Venn O, Street T, Leffler EM, Bowden R, Aneas I, Broxholme J, Humburg P, Iqbal Z, Lunter G, Maller J, Hernandez RD, Melton C, Venkat A, Nobrega MA, Bontrop R, Myers S, Donnelly P, Przeworski M, McVean G, Ségurel L. A fine-scale chimpanzee genetic map from population sequencing. Science. 2012 Apr 13; 336(6078):193-8. PMID: 22422862; PMCID: PMC3532813.
      Citations: 176     Fields:    Translation:HumansAnimalsCells
    49. Sakabe NJ, Aneas I, Shen T, Shokri L, Park SY, Bulyk ML, Evans SM, Nobrega MA. Dual transcriptional activator and repressor roles of TBX20 regulate adult cardiac structure and function. Hum Mol Genet. 2012 May 15; 21(10):2194-204. PMID: 22328084; PMCID: PMC3335310.
      Citations: 48     Fields:    Translation:AnimalsCells
    50. Sakabe NJ, Savic D, Nobrega MA. Transcriptional enhancers in development and disease. Genome Biol. 2012 Jan 23; 13(1):238. PMID: 22269347; PMCID: PMC3334578.
      Citations: 86     Fields:    Translation:HumansCells
    51. Shen T, Aneas I, Sakabe N, Dirschinger RJ, Wang G, Smemo S, Westlund JM, Cheng H, Dalton N, Gu Y, Boogerd CJ, Cai CL, Peterson K, Chen J, Nobrega MA, Evans SM. Tbx20 regulates a genetic program essential to adult mouse cardiomyocyte function. J Clin Invest. 2011 Dec; 121(12):4640-54. PMID: 22080862; PMCID: PMC3223071.
      Citations: 82     Fields:    Translation:HumansAnimalsCells
    52. Savic D, Distler MG, Sokoloff G, Shanahan NA, Dulawa SC, Palmer AA, Nobrega MA. Modulation ofTcf7l2 expression alters behavior in mice. PLoS One. 2011; 6(10):e26897. PMID: 22046400; PMCID: PMC3203170.
      Citations: 14     Fields:    Translation:Animals
    53. Schneider I, Aneas I, Gehrke AR, Dahn RD, Nobrega MA, Shubin NH. Appendage expression driven by the Hoxd Global Control Region is an ancient gnathostome feature. Proc Natl Acad Sci U S A. 2011 Aug 02; 108(31):12782-6. PMID: 21765002; PMCID: PMC3150877.
      Citations: 25     Fields:    Translation:HumansAnimalsCells
    54. Savic D, Ye H, Aneas I, Park SY, Bell GI, Nobrega MA. Alterations in TCF7L2 expression define its role as a key regulator of glucose metabolism. Genome Res. 2011 Sep; 21(9):1417-25. PMID: 21673050; PMCID: PMC3166827.
      Citations: 77     Fields:    Translation:HumansAnimalsCells
    55. Taher L, McGaughey DM, Maragh S, Aneas I, Bessling SL, Miller W, Nobrega MA, McCallion AS, Ovcharenko I. Genome-wide identification of conserved regulatory function in diverged sequences. Genome Res. 2011 Jul; 21(7):1139-49. PMID: 21628450; PMCID: PMC3129256.
      Citations: 48     Fields:    Translation:HumansAnimalsCells
    56. Arnolds DE, Chu A, McNally EM, Nobrega MA, Moskowitz IP. The emerging genetic landscape underlying cardiac conduction system function. Birth Defects Res A Clin Mol Teratol. 2011 Jun; 91(6):578-85. PMID: 21538814; PMCID: PMC4839955.
      Citations: 11     Fields:    Translation:HumansAnimals
    57. Wasserman NF, Aneas I, Nobrega MA. An 8q24 gene desert variant associated with prostate cancer risk confers differential in vivo activity to a MYC enhancer. Genome Res. 2010 Sep; 20(9):1191-7. PMID: 20627891; PMCID: PMC2928497.
      Citations: 123     Fields:    Translation:HumansAnimalsCells
    58. Nobrega MA. Journal club. A human geneticist explores the ways that genes are regulated. Nature. 2010 Jul 01; 466(7302):11. PMID: 20595974.
      Citations:    Fields:    
    59. Sakabe NJ, Nobrega MA. Genome-wide maps of transcription regulatory elements. Wiley Interdiscip Rev Syst Biol Med. 2010 Jul-Aug; 2(4):422-437. PMID: 20836039.
      Citations: 16     Fields:    Translation:Humans
    60. Gotea V, Visel A, Westlund JM, Nobrega MA, Pennacchio LA, Ovcharenko I. Homotypic clusters of transcription factor binding sites are a key component of human promoters and enhancers. Genome Res. 2010 May; 20(5):565-77. PMID: 20363979; PMCID: PMC2860159.
      Citations: 140     Fields:    Translation:HumansAnimalsCells
    61. Cravo RM, Azambuja AP, Sura-Trueba S, Gonzalez J, Slonimsky E, Almeida K, de Almeida MA, Sobreira TP, de Oliveira SH, de Oliveira PS, Signore IA, Colombo A, Concha ML, Spengler TS, Bronner-Fraser M, Nobrega M, Rosenthal N, Castillo HA, Simões-Costa MS, Abreu JG, Xavier-Neto J. Insights into the organization of dorsal spinal cord pathways from an evolutionarily conserved raldh2 intronic enhancer. Development. 2010 Feb; 137(3):507-18. PMID: 20081195; PMCID: PMC4074295.
      Citations: 12     Fields:    Translation:AnimalsCells
    62. Narlikar L, Sakabe NJ, Blanski AA, Arimura FE, Westlund JM, Nobrega MA, Ovcharenko I. Genome-wide discovery of human heart enhancers. Genome Res. 2010 Mar; 20(3):381-92. PMID: 20075146; PMCID: PMC2840982.
      Citations: 86     Fields:    Translation:HumansAnimalsCells
    63. Nobrega MA, Solberg Woods LC, Fleming S, Jacob HJ. Distinct genetic regulation of progression of diabetes and renal disease in the Goto-Kakizaki rat. Physiol Genomics. 2009 Sep 09; 39(1):38-46. PMID: 19584172.
      Citations: 12     Fields:    Translation:AnimalsCells
    64. van Bon BW, Mefford HC, Menten B, Koolen DA, Sharp AJ, Nillesen WM, Innis JW, de Ravel TJ, Mercer CL, Fichera M, Stewart H, Connell LE, Ounap K, Lachlan K, Castle B, Van der Aa N, van Ravenswaaij C, Nobrega MA, Simonic I, de Leeuw N, Pfundt R, Bongers EM, Baker C, Finnemore P, Huang S, Maloney VK, Crolla JA, van Kalmthout M, Elia M, Vandeweyer G, Fryns JP, Janssens S, Foulds N, Reitano S, Smith K, Parkel S, Loeys B, Woods CG, Oostra A, Speleman F, Pereira AC, Kurg A, Willatt L, Knight SJ, Vermeesch JR, Romano C, Barber JC, Mortier G, Kooy F, Brunner HG, Eichler EE, Kleefstra T, de Vries BB, Serra-Juhé C, Pérez-Jurado LA. Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome. J Med Genet. 2009 Aug; 46(8):511-23. PMID: 19372089; PMCID: PMC3395372.
      Citations: 116     Fields:    Translation:HumansCells
    65. Moskowitz IP, Kim JB, Moore ML, Wolf CM, Peterson MA, Shendure J, Nobrega MA, Yokota Y, Berul C, Izumo S, Seidman JG, Seidman CE. A molecular pathway including Id2, Tbx5, and Nkx2-5 required for cardiac conduction system development. Cell. 2007 Jun 29; 129(7):1365-76. PMID: 17604724.
      Citations: 135     Fields:    Translation:AnimalsCells
    66. Pennacchio LA, Loots GG, Nobrega MA, Ovcharenko I. Predicting tissue-specific enhancers in the human genome. Genome Res. 2007 Feb; 17(2):201-11. PMID: 17210927; PMCID: PMC1781352.
      Citations: 84     Fields:    Translation:HumansAnimalsCells
    67. Pennacchio LA, Ahituv N, Moses AM, Prabhakar S, Nobrega MA, Shoukry M, Minovitsky S, Dubchak I, Holt A, Lewis KD, Plajzer-Frick I, Akiyama J, De Val S, Afzal V, Black BL, Couronne O, Eisen MB, Visel A, Rubin EM. In vivo enhancer analysis of human conserved non-coding sequences. Nature. 2006 Nov 23; 444(7118):499-502. PMID: 17086198.
      Citations: 623     Fields:    Translation:HumansAnimalsCells
    68. Ovcharenko I, Nobrega MA. Identifying synonymous regulatory elements in vertebrate genomes. Nucleic Acids Res. 2005 Jul 01; 33(Web Server issue):W403-7. PMID: 15980499; PMCID: PMC1160227.
      Citations: 13     Fields:    Translation:HumansAnimalsCells
    69. Poulin F, Nobrega MA, Plajzer-Frick I, Holt A, Afzal V, Rubin EM, Pennacchio LA. In vivo characterization of a vertebrate ultraconserved enhancer. Genomics. 2005 Jun; 85(6):774-81. PMID: 15885503.
      Citations: 39     Fields:    Translation:HumansAnimalsCells
    70. Ovcharenko I, Loots GG, Nobrega MA, Hardison RC, Miller W, Stubbs L. Evolution and functional classification of vertebrate gene deserts. Genome Res. 2005 Jan; 15(1):137-45. PMID: 15590943; PMCID: PMC540279.
      Citations: 108     Fields:    Translation:HumansAnimalsCells
    71. Ahituv N, Rubin EM, Nobrega MA. Exploiting human--fish genome comparisons for deciphering gene regulation. Hum Mol Genet. 2004 Oct 01; 13 Spec No 2:R261-6. PMID: 15358733.
      Citations: 25     Fields:    Translation:HumansAnimals
    72. Ovcharenko I, Nobrega MA, Loots GG, Stubbs L. ECR Browser: a tool for visualizing and accessing data from comparisons of multiple vertebrate genomes. Nucleic Acids Res. 2004 Jul 01; 32(Web Server issue):W280-6. PMID: 15215395; PMCID: PMC441493.
      Citations: 273     Fields:    Translation:HumansAnimalsCells
    73. Boffelli D, Nobrega MA, Rubin EM. Comparative genomics at the vertebrate extremes. Nat Rev Genet. 2004 Jun; 5(6):456-65. PMID: 15153998.
      Citations: 112     Fields:    Translation:HumansAnimalsCells
    74. Nobrega MA, Fleming S, Roman RJ, Shiozawa M, Schlick N, Lazar J, Jacob HJ. Initial characterization of a rat model of diabetic nephropathy. Diabetes. 2004 Mar; 53(3):735-42. PMID: 14988259.
      Citations: 26     Fields:    Translation:Animals
    75. Nobrega MA, Pennacchio LA. Comparative genomic analysis as a tool for biological discovery. J Physiol. 2004 Jan 01; 554(Pt 1):31-9. PMID: 14678488; PMCID: PMC1664741.
      Citations: 42     Fields:    Translation:HumansAnimals
    76. Nobrega MA, Ovcharenko I, Afzal V, Rubin EM. Scanning human gene deserts for long-range enhancers. Science. 2003 Oct 17; 302(5644):413. PMID: 14563999.
      Citations: 275     Fields:    Translation:HumansAnimalsCells
    77. Yoon JW, Kita Y, Frank DJ, Majewski RR, Konicek BA, Nobrega MA, Jacob H, Walterhouse D, Iannaccone P. Gene expression profiling leads to identification of GLI1-binding elements in target genes and a role for multiple downstream pathways in GLI1-induced cell transformation. J Biol Chem. 2002 Feb 15; 277(7):5548-55. PMID: 11719506.
      Citations: 135     Fields:    Translation:HumansAnimalsCells
    78. Kwitek AE, Tonellato PJ, Chen D, Gullings-Handley J, Cheng YS, Twigger S, Scheetz TE, Casavant TL, Stoll M, Nobrega MA, Shiozawa M, Soares MB, Sheffield VC, Jacob HJ, Kwitek AE, Tonellato PJ, Chen D, Gullings-Handley J, Cheng YS, Twigger S, Scheetz TE, Casavant TL, Stoll M, Nobrega MA, Shiozawa M, Soares MB, Sheffield VC, Jacob HJ. Automated construction of high-density comparative maps between rat, human, and mouse. Genome Res. 2001 Nov; 11(11):1935-43. PMID: 11691858; PMCID: PMC311144.
      Citations: 13     Fields:    Translation:HumansAnimals
    79. Nobrega MA, Shiozawa M, Koike G, Jacob HJ, Miano JM. Gene structure and chromosomal mapping of the rat smooth muscle calponin gene. Mamm Genome. 2000 Feb; 11(2):115-9. PMID: 10656925.
      Citations: 1     Fields:    Translation:AnimalsCells
    80. Berlani RE, Bonitz SG, Coruzzi G, Nobrega M, Tzagoloff A. Transfer RNA genes in the cap-oxil region of yeast mitochondrial DNA. Nucleic Acids Res. 1980 Nov 11; 8(21):5017-30. PMID: 7003547; PMCID: PMC324276.
      Citations: 18     Fields:    Translation:AnimalsCells
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