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Nadav Ahituv, PhD

Title(s)Professor, Bioengineering
SchoolSchool of Pharmacy
Phone415-476-1838
ORCID ORCID Icon0000-0002-7434-8144 Additional info
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    Collapse Biography 
    Collapse Awards and Honors
    Tel-Aviv University2002  - 2002Ph.D. with distinction
    The American Society for Clinical Pharmacology and Therapeutics2014  - 2014ASCPT Leon I. Goldberg young investigator award

    Collapse Overview 
    Collapse Overview
    The Ahituv lab is focused on understanding the role of regulatory sequences in human biology and disease. Through a combination of comparative genomic strategies, biochemical assays, regulatory element analysis, human patient samples, mouse and fish genetic engineering technologies, and massively parallel reporter assays they are working to elucidate mechanisms whereby genetic variation within these sequences lead to changes in human phenotypes.

    Collapse Research 
    Collapse Research Activities and Funding
    Technologies for simultaneous characterization of regulatory activity and protein binding
    NIH/NHGRI R21HG010683Aug 16, 2019 - Jul 31, 2021
    Role: Principal Investigator
    Genetic Etiology of Abdominal Hernia Susceptibility
    NIH/NIDDK R01DK116738Sep 15, 2018 - Aug 31, 2021
    Role: Co-Principal Investigator
    Massively parallel characterization of psychiatric disease associated regulatory elements in defined cell types
    NIH/NIMH U01MH116438Jul 6, 2018 - Mar 31, 2023
    Role: Principal Investigator
    Development of massively parallel reporter assays that use cognate promoters
    NIH/NHGRI R21HG010065May 1, 2018 - Apr 30, 2020
    Role: Co-Principal Investigator
    Massively parallel reporter assays and genome editing of ENCODE predicted regulatory elements
    NIH/NHGRI UM1HG009408Feb 1, 2017 - Jan 31, 2021
    Role: Principal Investigator
    Developmental Mechanisms of Human Idiopathic Scoliosis
    NIH/NICHD P01HD084387Sep 1, 2016 - Jun 30, 2021
    Role: Co-Principal Investigator
    Massively parallel dissection of psychiatric regulatory networks
    NIH/NIMH R01MH109907May 1, 2016 - Feb 28, 2021
    Role: Co-Principal Investigator
    The Airway Functional Genomics of Bronchodilator Drug Response in Minority Children with Asthma
    NIH/NHLBI R01HL117004Aug 1, 2013 - Jun 30, 2023
    Role: Co-Principal Investigator
    Identification &functional characterization of SIM1 obesity-associated variants
    NIH/NIDDK R01DK090382May 1, 2012 - Mar 31, 2016
    Role: Co-Principal Investigator
    Massively parallel, in vivo functional testing of regulatory elements
    NIH/NHGRI R01HG006768Apr 24, 2012 - Feb 28, 2015
    Role: Co-Principal Investigator
    Characterization of neuronal gene regulatory elements associated with epilepsy
    NIH/NINDS R01NS079231Apr 1, 2012 - Mar 31, 2016
    Role: Principal Investigator
    Computational &Functional Annotation of the Zebrafish Genome Regulatory Toolbox
    NIH/NHGRI R01HG005058Sep 29, 2009 - Jul 31, 2014
    Role: Co-Principal Investigator
    Characterization of regulatory elements leading to human limb malformations
    NIH/NICHD R01HD059862Apr 1, 2009 - Mar 31, 2014
    Role: Principal Investigator
    Pharmacogenomics of Membrane Transporters
    NIH U19GM061390Apr 1, 2000 - Jun 30, 2015
    Role: Co-Investigator

    Collapse ORNG Applications 
    Collapse Websites
    Collapse Student Projects

    Collapse Bibliographic 
    Collapse Publications
    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Researchers can login to make corrections and additions, or contact us for help.
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    1. Liu Z, Easson GWD, Zhao J, Makki N, Ahituv N, Hilton MJ, Tang SY, Gray RS. Dysregulation of STAT3 signaling is associated with endplate-oriented herniations of the intervertebral disc in Adgrg6 mutant mice. PLoS Genet. 2019 Oct 25; 15(10):e1008096. PMID: 31652254.
      View in: PubMed
    2. Inoue F, Kreimer A, Ashuach T, Ahituv N, Yosef N. Identification and Massively Parallel Characterization of Regulatory Elements Driving Neural Induction. Cell Stem Cell. 2019 Oct 14. PMID: 31631012.
      View in: PubMed
    3. Ashuach T, Fischer DS, Kreimer A, Ahituv N, Theis FJ, Yosef N. MPRAnalyze: statistical framework for massively parallel reporter assays. Genome Biol. 2019 09 02; 20(1):183. PMID: 31477158.
      View in: PubMed
    4. Hardin A, Nevonen KA, Eckalbar WL, Carbone L, Ahituv N. Comparative genomic characterization of the multimammate mouse Mastomys coucha. Mol Biol Evol. 2019 Aug 19. PMID: 31424545.
      View in: PubMed
    5. Xu C, Yang X, Zhou H, Li Y, Xing C, Zhou T, Zhong D, Lian C, Yan M, Chen T, Liao Z, Gao B, Su D, Wang T, Sharma S, Mohan C, Ahituv N, Malik S, Li QZ, Su P. A novel ZRS variant causes preaxial polydactyly type I by increased sonic hedgehog expression in the developing limb bud. Genet Med. 2019 Aug 09. PMID: 31395945.
      View in: PubMed
    6. Kircher M, Xiong C, Martin B, Schubach M, Inoue F, Bell RJA, Costello JF, Shendure J, Ahituv N. Saturation mutagenesis of twenty disease-associated regulatory elements at single base-pair resolution. Nat Commun. 2019 Aug 08; 10(1):3583. PMID: 31395865.
      View in: PubMed
    7. Shigaki D, Adato O, Adhikari AN, Dong S, Hawkins-Hooker A, Inoue F, Juven-Gershon T, Kenlay H, Martin B, Patra A, Penzar DD, Schubach M, Xiong C, Yan Z, Boyle AP, Kreimer A, Kulakovskiy IV, Reid J, Unger R, Yosef N, Shendure J, Ahituv N, Kircher M, Beer MA. Integration of multiple epigenomic marks improves prediction of variant impact in saturation mutagenesis reporter assay. Hum Mutat. 2019 Sep; 40(9):1280-1291. PMID: 31106481.
      View in: PubMed
    8. Kreimer A, Yan Z, Ahituv N, Yosef N. Meta-analysis of massively parallel reporter assays enables prediction of regulatory function across cell types. Hum Mutat. 2019 Sep; 40(9):1299-1313. PMID: 31131957.
      View in: PubMed
    9. Inoue F, Eckalbar WL, Wang Y, Murphy KK, Matharu N, Vaisse C, Ahituv N. Genomic and epigenomic mapping of leptin-responsive neuronal populations involved in body weight regulation. Nat Metab. 2019 Apr; 1(4):475-484. PMID: 31535083.
      View in: PubMed
    10. Gasperini M, Hill AJ, McFaline-Figueroa JL, Martin B, Kim S, Zhang MD, Jackson D, Leith A, Schreiber J, Noble WS, Trapnell C, Ahituv N, Shendure J. A Genome-wide Framework for Mapping Gene Regulation via Cellular Genetic Screens. Cell. 2019 Mar 07; 176(6):1516. PMID: 30849375.
      View in: PubMed
    11. Jorgenson E, Matharu N, Palmer MR, Yin J, Shan J, Hoffmann TJ, Thai KK, Zhou X, Hotaling JM, Jarvik GP, Ahituv N, Wessells H, Van Den Eeden SK. Reply to Liu et al.: Tissue specificity of SIM1 gene expression and erectile dysfunction. Proc Natl Acad Sci U S A. 2019 02 26; 116(9):3349-3350. PMID: 30755537.
      View in: PubMed
    12. Gasperini M, Hill AJ, McFaline-Figueroa JL, Martin B, Kim S, Zhang MD, Jackson D, Leith A, Schreiber J, Noble WS, Trapnell C, Ahituv N, Shendure J. A Genome-wide Framework for Mapping Gene Regulation via Cellular Genetic Screens. Cell. 2019 01 10; 176(1-2):377-390.e19. PMID: 30612741.
      View in: PubMed
    13. An JY, Lin K, Zhu L, Werling DM, Dong S, Brand H, Wang HZ, Zhao X, Schwartz GB, Collins RL, Currall BB, Dastmalchi C, Dea J, Duhn C, Gilson MC, Klei L, Liang L, Markenscoff-Papadimitriou E, Pochareddy S, Ahituv N, Buxbaum JD, Coon H, Daly MJ, Kim YS, Marth GT, Neale BM, Quinlan AR, Rubenstein JL, Sestan N, State MW, Willsey AJ, Talkowski ME, Devlin B, Roeder K, Sanders SJ. Genome-wide de novo risk score implicates promoter variation in autism spectrum disorder. Science. 2018 12 14; 362(6420). PMID: 30545852.
      View in: PubMed
    14. Matharu N, Rattanasopha S, Tamura S, Maliskova L, Wang Y, Bernard A, Hardin A, Eckalbar WL, Vaisse C, Ahituv N. CRISPR-mediated activation of a promoter or enhancer rescues obesity caused by haploinsufficiency. Science. 2019 01 18; 363(6424). PMID: 30545847.
      View in: PubMed
    15. Khanshour AM, Kou I, Fan Y, Einarsdottir E, Makki N, Kidane YH, Kere J, Grauers A, Johnson TA, Paria N, Patel C, Singhania R, Kamiya N, Takeda K, Otomo N, Watanabe K, Luk KDK, Cheung KMC, Herring JA, Rios JJ, Ahituv N, Gerdhem P, Gurnett CA, Song YQ, Ikegawa S, Wise CA. Genome-wide meta-analysis and replication studies in multiple ethnicities identify novel adolescent idiopathic scoliosis susceptibility loci. Hum Mol Genet. 2018 11 15; 27(22):3986-3998. PMID: 30395268.
      View in: PubMed
    16. Potuijt JWP, Galjaard RH, van der Spek PJ, van Nieuwenhoven CA, Ahituv N, Oberg KC, Hovius SER. A multidisciplinary review of triphalangeal thumb. J Hand Surg Eur Vol. 2019 Jan; 44(1):59-68. PMID: 30318985.
      View in: PubMed
    17. Jorgenson E, Matharu N, Palmer MR, Yin J, Shan J, Hoffmann TJ, Thai KK, Zhou X, Hotaling JM, Jarvik GP, Ahituv N, Wessells H, Van Den Eeden SK. Genetic variation in the SIM1 locus is associated with erectile dysfunction. Proc Natl Acad Sci U S A. 2018 10 23; 115(43):11018-11023. PMID: 30297428.
      View in: PubMed
    18. Mak ACY, White MJ, Eckalbar WL, Szpiech ZA, Oh SS, Pino-Yanes M, Hu D, Goddard P, Huntsman S, Galanter J, Wu AC, Himes BE, Germer S, Vogel JM, Bunting KL, Eng C, Salazar S, Keys KL, Liberto J, Nuckton TJ, Nguyen TA, Torgerson DG, Kwok PY, Levin AM, Celedón JC, Forno E, Hakonarson H, Sleiman PM, Dahlin A, Tantisira KG, Weiss ST, Serebrisky D, Brigino-Buenaventura E, Farber HJ, Meade K, Lenoir MA, Avila PC, Sen S, Thyne SM, Rodriguez-Cintron W, Winkler CA, Moreno-Estrada A, Sandoval K, Rodriguez-Santana JR, Kumar R, Williams LK, Ahituv N, Ziv E, Seibold MA, Darnell RB, Zaitlen N, Hernandez RD, Burchard EG. Whole-Genome Sequencing of Pharmacogenetic Drug Response in Racially Diverse Children with Asthma. Am J Respir Crit Care Med. 2018 06 15; 197(12):1552-1564. PMID: 29509491.
      View in: PubMed
    19. Inoue F, Kircher M, Martin B, Cooper GM, Witten DM, McManus MT, Ahituv N, Shendure J. Corrigendum: A systematic comparison reveals substantial differences in chromosomal versus episomal encoding of enhancer activity. Genome Res. 2018 05; 28(5):766.3. PMID: 29717003.
      View in: PubMed
    20. Sukenik Halevy R, Chien HC, Heinz B, Bamshad MJ, Nickerson DA, Kircher M, Ahituv N. Mutations in the fourth ß-propeller domain of LRP4 are associated with isolated syndactyly with fusion of the third and fourth fingers. Hum Mutat. 2018 06; 39(6):811-815. PMID: 29524275.
      View in: PubMed
    21. Potuijt JWP, Baas M, Sukenik-Halevy R, Douben H, Nguyen P, Venter DJ, Gallagher R, Swagemakers SM, Hovius SER, van Nieuwenhoven CA, Galjaard RH, van der Spek PJ, Ahituv N, de Klein A. A point mutation in the pre-ZRS disrupts sonic hedgehog expression in the limb bud and results in triphalangeal thumb-polysyndactyly syndrome. Genet Med. 2018 11; 20(11):1405-1413. PMID: 29543231.
      View in: PubMed
    22. Eclov RJ, Kim MJ, Smith R, Ahituv N, Kroetz DL. Rare Variants in the ABCG2 Promoter Modulate In Vivo Activity. Drug Metab Dispos. 2018 05; 46(5):636-642. PMID: 29467213.
      View in: PubMed
    23. Eclov RJ, Kim MJ, Chhibber A, Smith RP, Ahituv N, Kroetz DL. ABCG2 regulatory single-nucleotide polymorphisms alter in vivo enhancer activity and expression. Pharmacogenet Genomics. 2017 Dec; 27(12):454-463. PMID: 28930109.
      View in: PubMed
    24. Zhao W, Siegel D, Biton A, Tonqueze OL, Zaitlen N, Ahituv N, Erle DJ. CRISPR-Cas9-mediated functional dissection of 3'-UTRs. Nucleic Acids Res. 2017 Oct 13; 45(18):10800-10810. PMID: 28985357.
      View in: PubMed
    25. Starita LM, Ahituv N, Dunham MJ, Kitzman JO, Roth FP, Seelig G, Shendure J, Fowler DM. Variant Interpretation: Functional Assays to the Rescue. Am J Hum Genet. 2017 Sep 07; 101(3):315-325. PMID: 28886340.
      View in: PubMed
    26. Ryu AH, Eckalbar WL, Kreimer A, Yosef N, Ahituv N. Use antibiotics in cell culture with caution: genome-wide identification of antibiotic-induced changes in gene expression and regulation. Sci Rep. 2017 08 08; 7(1):7533. PMID: 28790348.
      View in: PubMed
    27. Chatterjee S, Ahituv N. Gene Regulatory Elements, Major Drivers of Human Disease. Annu Rev Genomics Hum Genet. 2017 08 31; 18:45-63. PMID: 28399667.
      View in: PubMed
    28. Petit F, Sears KE, Ahituv N. Limb development: a paradigm of gene regulation. Nat Rev Genet. 2017 04; 18(4):245-258. PMID: 28163321.
      View in: PubMed
    29. Luizon MR, Eckalbar WL, Wang Y, Jones SL, Smith RP, Laurance M, Lin L, Gallins PJ, Etheridge AS, Wright F, Zhou Y, Molony C, Innocenti F, Yee SW, Giacomini KM, Ahituv N. Genomic Characterization of Metformin Hepatic Response. PLoS Genet. 2016 Nov; 12(11):e1006449. PMID: 27902686.
      View in: PubMed
    30. Eclov RJ, Kim MJ, Smith RP, Liang X, Ahituv N, Kroetz DL. In Vivo Hepatic Enhancer Elements in the Human ABCG2 Locus. Drug Metab Dispos. 2017 02; 45(2):208-215. PMID: 27856528.
      View in: PubMed
    31. Inoue F, Kircher M, Martin B, Cooper GM, Witten DM, McManus MT, Ahituv N, Shendure J. A systematic comparison reveals substantial differences in chromosomal versus episomal encoding of enhancer activity. Genome Res. 2017 01; 27(1):38-52. PMID: 27831498.
      View in: PubMed
    32. Booker BM, Friedrich T, Mason MK, VanderMeer JE, Zhao J, Eckalbar WL, Logan M, Illing N, Pollard KS, Ahituv N. Bat Accelerated Regions Identify a Bat Forelimb Specific Enhancer in the HoxD Locus. PLoS Genet. 2016 Mar; 12(3):e1005738. PMID: 27019019.
      View in: PubMed
    33. Eckalbar WL, Schlebusch SA, Mason MK, Gill Z, Parker AV, Booker BM, Nishizaki S, Muswamba-Nday C, Terhune E, Nevonen KA, Makki N, Friedrich T, VanderMeer JE, Pollard KS, Carbone L, Wall JD, Illing N, Ahituv N. Transcriptomic and epigenomic characterization of the developing bat wing. Nat Genet. 2016 05; 48(5):528-36. PMID: 27019111.
      View in: PubMed
    34. Ahituv N. Exonic enhancers: proceed with caution in exome and genome sequencing studies. Genome Med. 2016 Feb 08; 8(1):14. PMID: 26856702.
      View in: PubMed
    35. Belinson H, Nakatani J, Babineau BA, Birnbaum RY, Ellegood J, Bershteyn M, McEvilly RJ, Long JM, Willert K, Klein OD, Ahituv N, Lerch JP, Rosenfeld MG, Wynshaw-Boris A. Prenatal ß-catenin/Brn2/Tbr2 transcriptional cascade regulates adult social and stereotypic behaviors. Mol Psychiatry. 2016 10; 21(10):1417-33. PMID: 26830142.
      View in: PubMed
    36. Jorgenson E, Makki N, Shen L, Chen DC, Tian C, Eckalbar WL, Hinds D, Ahituv N, Avins A. A genome-wide association study identifies four novel susceptibility loci underlying inguinal hernia. Nat Commun. 2015 Dec 21; 6:10130. PMID: 26686553.
      View in: PubMed
    37. Matharu N, Ahituv N. Minor Loops in Major Folds: Enhancer-Promoter Looping, Chromatin Restructuring, and Their Association with Transcriptional Regulation and Disease. PLoS Genet. 2015 Dec; 11(12):e1005640. PMID: 26632825.
      View in: PubMed
    38. Hesse RG, Kouklis GK, Ahituv N, Pomerantz JH. The human ARF tumor suppressor senses blastema activity and suppresses epimorphic tissue regeneration. Elife. 2015 Nov 17; 4. PMID: 26575287.
      View in: PubMed
    39. Luizon MR, Ahituv N. Uncovering drug-responsive regulatory elements. Pharmacogenomics. 2015 Nov; 16(16):1829-41. PMID: 26555224.
      View in: PubMed
    40. Yang S, Oksenberg N, Takayama S, Heo SJ, Poliakov A, Ahituv N, Dubchak I, Boffelli D. Functionally conserved enhancers with divergent sequences in distant vertebrates. BMC Genomics. 2015 Oct 30; 16:882. PMID: 26519295.
      View in: PubMed
    41. Tapaltsyan V, Charles C, Hu J, Mindell D, Ahituv N, Wilson GM, Black BL, Viriot L, Klein OD. Identification of novel Fgf enhancers and their role in dental evolution. Evol Dev. 2016 Jan-Feb; 18(1):31-40. PMID: 26086993.
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    42. Inoue F, Ahituv N. Decoding enhancers using massively parallel reporter assays. Genomics. 2015 Sep; 106(3):159-164. PMID: 26072433.
      View in: PubMed
    43. Sharma S, Londono D, Eckalbar WL, Gao X, Zhang D, Mauldin K, Kou I, Takahashi A, Matsumoto M, Kamiya N, Murphy KK, Cornelia R, Herring JA, Burns D, Ahituv N, Ikegawa S, Gordon D, Wise CA. A PAX1 enhancer locus is associated with susceptibility to idiopathic scoliosis in females. Nat Commun. 2015 Mar 18; 6:6452. PMID: 25784220.
      View in: PubMed
    44. Markenscoff-Papadimitriou E, Allen WE, Colquitt BM, Goh T, Murphy KK, Monahan K, Mosley CP, Ahituv N, Lomvardas S. Enhancer interaction networks as a means for singular olfactory receptor expression. Cell. 2014 Oct 23; 159(3):543-57. PMID: 25417106.
      View in: PubMed
    45. Birnbaum RY, Patwardhan RP, Kim MJ, Findlay GM, Martin B, Zhao J, Bell RJ, Smith RP, Ku AA, Shendure J, Ahituv N. Systematic dissection of coding exons at single nucleotide resolution supports an additional role in cell-specific transcriptional regulation. PLoS Genet. 2014 Oct; 10(10):e1004592. PMID: 25340400.
      View in: PubMed
    46. Smith RP, Eckalbar WL, Morrissey KM, Luizon MR, Hoffmann TJ, Sun X, Jones SL, Force Aldred S, Ramamoorthy A, Desta Z, Liu Y, Skaar TC, Trinklein ND, Giacomini KM, Ahituv N. Genome-wide discovery of drug-dependent human liver regulatory elements. PLoS Genet. 2014 Oct; 10(10):e1004648. PMID: 25275310.
      View in: PubMed
    47. VanderMeer JE, Smith RP, Jones SL, Ahituv N. Genome-wide identification of signaling center enhancers in the developing limb. Development. 2014 Nov; 141(21):4194-8. PMID: 25273087.
      View in: PubMed
    48. Oksenberg N, Haliburton GD, Eckalbar WL, Oren I, Nishizaki S, Murphy K, Pollard KS, Birnbaum RY, Ahituv N. Genome-wide distribution of Auts2 binding localizes with active neurodevelopmental genes. Transl Psychiatry. 2014 Sep 02; 4:e431. PMID: 25180570.
      View in: PubMed
    49. Erwin GD, Oksenberg N, Truty RM, Kostka D, Murphy KK, Ahituv N, Pollard KS, Capra JA. Integrating diverse datasets improves developmental enhancer prediction. PLoS Comput Biol. 2014 Jun; 10(6):e1003677. PMID: 24967590.
      View in: PubMed
    50. VanderMeer JE, Lozano R, Sun M, Xue Y, Daentl D, Jabs EW, Wilcox WR, Ahituv N. A novel ZRS mutation leads to preaxial polydactyly type 2 in a heterozygous form and Werner mesomelic syndrome in a homozygous form. Hum Mutat. 2014 Aug; 35(8):945-8. PMID: 24777739.
      View in: PubMed
    51. Laurell T, Nilsson D, Hofmeister W, Lindstrand A, Ahituv N, Vandermeer J, Amilon A, Annerén G, Arner M, Pettersson M, Jäntti N, Rosberg HE, Cattini PA, Nordenskjöld A, Mäkitie O, Grigelioniene G, Nordgren A. Identification of three novel FGF16 mutations in X-linked recessive fusion of the fourth and fifth metacarpals and possible correlation with heart disease. Mol Genet Genomic Med. 2014 Sep; 2(5):402-11. PMID: 25333065.
      View in: PubMed
    52. Evans DS, Calton MA, Kim MJ, Kwok PY, Miljkovic I, Harris T, Koster A, Liu Y, Tranah GJ, Ahituv N, Hsueh WC, Vaisse C. Genetic association study of adiposity and melanocortin-4 receptor (MC4R) common variants: replication and functional characterization of non-coding regions. PLoS One. 2014; 9(5):e96805. PMID: 24820477.
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    53. Zhang Y, Wong CH, Birnbaum RY, Li G, Favaro R, Ngan CY, Lim J, Tai E, Poh HM, Wong E, Mulawadi FH, Sung WK, Nicolis S, Ahituv N, Ruan Y, Wei CL. Chromatin connectivity maps reveal dynamic promoter-enhancer long-range associations. Nature. 2013 Dec 12; 504(7479):306-310. PMID: 24213634.
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    54. Kim MJ, Oksenberg N, Hoffmann TJ, Vaisse C, Ahituv N. Functional characterization of SIM1-associated enhancers. Hum Mol Genet. 2014 Apr 01; 23(7):1700-8. PMID: 24203700.
      View in: PubMed
    55. Booker BM, Murphy KK, Ahituv N. Functional analysis of limb enhancers in the developing fin. Dev Genes Evol. 2013 Nov; 223(6):395-9. PMID: 24068387.
      View in: PubMed
    56. Zhao J, Shi H, Ahituv N. Classification of topological domains based on gene expression and regulation. Genome. 2013 Jul; 56(7):415-23. PMID: 24099394.
      View in: PubMed
    57. Oksenberg N, Ahituv N. The role of AUTS2 in neurodevelopment and human evolution. Trends Genet. 2013 Oct; 29(10):600-8. PMID: 24008202.
      View in: PubMed
    58. Smith RP, Taher L, Patwardhan RP, Kim MJ, Inoue F, Shendure J, Ovcharenko I, Ahituv N. Massively parallel decoding of mammalian regulatory sequences supports a flexible organizational model. Nat Genet. 2013 Sep; 45(9):1021-1028. PMID: 23892608.
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    59. Smith RP, Riesenfeld SJ, Holloway AK, Li Q, Murphy KK, Feliciano NM, Orecchia L, Oksenberg N, Pollard KS, Ahituv N. A compact, in vivo screen of all 6-mers reveals drivers of tissue-specific expression and guides synthetic regulatory element design. Genome Biol. 2013 Jul 18; 14(7):R72. PMID: 23867016.
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    60. Oksenberg N, Stevison L, Wall JD, Ahituv N. Function and regulation of AUTS2, a gene implicated in autism and human evolution. PLoS Genet. 2013; 9(1):e1003221. PMID: 23349641.
      View in: PubMed
    61. Taher L, Smith RP, Kim MJ, Ahituv N, Ovcharenko I. Sequence signatures extracted from proximal promoters can be used to predict distal enhancers. Genome Biol. 2013; 14(10):R117. PMID: 24156763.
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    62. Kim MJ, Ahituv N. The hydrodynamic tail vein assay as a tool for the study of liver promoters and enhancers. Methods Mol Biol. 2013; 1015:279-89. PMID: 23824863.
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    63. Andersson LS, Larhammar M, Memic F, Wootz H, Schwochow D, Rubin CJ, Patra K, Arnason T, Wellbring L, Hjälm G, Imsland F, Petersen JL, McCue ME, Mickelson JR, Cothran G, Ahituv N, Roepstorff L, Mikko S, Vallstedt A, Lindgren G, Andersson L, Kullander K. Mutations in DMRT3 affect locomotion in horses and spinal circuit function in mice. Nature. 2012 Aug 30; 488(7413):642-6. PMID: 22932389.
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    64. Birnbaum RY, Everman DB, Murphy KK, Gurrieri F, Schwartz CE, Ahituv N. Functional characterization of tissue-specific enhancers in the DLX5/6 locus. Hum Mol Genet. 2012 Nov 15; 21(22):4930-8. PMID: 22914741.
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    65. Clarke SL, VanderMeer JE, Wenger AM, Schaar BT, Ahituv N, Bejerano G. Human developmental enhancers conserved between deuterostomes and protostomes. PLoS Genet. 2012; 8(8):e1002852. PMID: 22876195.
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    66. VanderMeer JE, Afzal M, Alyas S, Haque S, Ahituv N, Malik S. A novel ZRS mutation in a Balochi tribal family with triphalangeal thumb, pre-axial polydactyly, post-axial polydactyly, and syndactyly. Am J Med Genet A. 2012 Aug; 158A(8):2031-5. PMID: 22786669.
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    67. Lu W, Bacino CA, Richards BS, Alvarez C, VanderMeer JE, Vella M, Ahituv N, Sikka N, Dietz FR, Blanton SH, Hecht JT. Studies of TBX4 and chromosome 17q23.1q23.2: an uncommon cause of nonsyndromic clubfoot. Am J Med Genet A. 2012 Jul; 158A(7):1620-7. PMID: 22678995.
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    68. Smith RP, Lam ET, Markova S, Yee SW, Ahituv N. Pharmacogene regulatory elements: from discovery to applications. Genome Med. 2012 May 25; 4(5):45. PMID: 22630332.
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    69. Laurell T, Vandermeer JE, Wenger AM, Grigelioniene G, Nordenskjöld A, Arner M, Ekblom AG, Bejerano G, Ahituv N, Nordgren A. A novel 13 base pair insertion in the sonic hedgehog ZRS limb enhancer (ZRS/LMBR1) causes preaxial polydactyly with triphalangeal thumb. Hum Mutat. 2012 Jul; 33(7):1063-6. PMID: 22495965.
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    70. Birnbaum RY, Clowney EJ, Agamy O, Kim MJ, Zhao J, Yamanaka T, Pappalardo Z, Clarke SL, Wenger AM, Nguyen L, Gurrieri F, Everman DB, Schwartz CE, Birk OS, Bejerano G, Lomvardas S, Ahituv N. Coding exons function as tissue-specific enhancers of nearby genes. Genome Res. 2012 Jun; 22(6):1059-68. PMID: 22442009.
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    71. Patwardhan RP, Hiatt JB, Witten DM, Kim MJ, Smith RP, May D, Lee C, Andrie JM, Lee SI, Cooper GM, Ahituv N, Pennacchio LA, Shendure J. Massively parallel functional dissection of mammalian enhancers in vivo. Nat Biotechnol. 2012 Feb 26; 30(3):265-70. PMID: 22371081.
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    72. Julia E. VanderMeer, Nadav Ahituv. Cis-Regulatory Enhancer Mutations are a Cause of Human Limb Malformations. Gene Regulatory Sequences and Human Disease. 2012 Jan 1; 73-93.
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    73. Nadav Ahituv. Gene Regulatory Elements. Gene Regulatory Sequences and Human Disease. 2012 Jan 1; 1-17.
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    74. Ahituv N. Location, location, cis-mutation. Hum Mutat. 2011 Dec; 32(12):iv. PMID: 22083934.
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