Nadav Ahituv, PhD

Professor

The Ahituv lab is focused on identifying gene regulatory elements and linking nucleotide variation within them to various phenotypes including morphological differences between species, drug response and human disease. In addition, our lab is developing massively parallel reporter assays (MPRAs) that allow for high-throughput functional characterization of gene regulatory elements and the use of gene regulatory elements as therapeutic targets or disease diagnostic markers.

Honors and Awards
  • ASCPT Leon I. Goldberg young investigator award, The American Society for Clinical Pharmacology and Therapeutics, 2014
  • Ph.D. with distinction, Tel-Aviv University, 2002
Websites
Publications

  1. Lima AC, Okhovat M, Stendahl AM, VanCampen J, Nevonen KA, Herrera J, Li W, Harshman L, Yang R, Fedorov LM, Vigh-Conrad KA, Ahituv N, Conrad DF, Carbone L. Deletion of an evolutionarily conserved TAD boundary compromises spermatogenesis in mice. bioRxiv : the preprint server for biology 2024. PMID: 39026739


  2. Zeng B, Bendl J, Deng C, Lee D, Misir R, Reach SM, Kleopoulos SP, Auluck P, Marenco S, Lewis DA, Haroutunian V, Ahituv N, Fullard JF, Hoffman GE, Roussos P. Genetic regulation of cell type-specific chromatin accessibility shapes brain disease etiology. Science (New York, N.Y.) 2024. PMID: 38781378


  3. Deng C, Whalen S, Steyert M, Ziffra R, Przytycki PF, Inoue F, Pereira DA, Capauto D, Norton S, Vaccarino FM, PsychENCODE Consortium‡, Pollen AA, Nowakowski TJ, Ahituv N, Pollard KS, PsychENCODE Consortium. Massively parallel characterization of regulatory elements in the developing human cortex. Science (New York, N.Y.) 2024. PMID: 38781390


  4. DeGroat W, Inoue F, Ashuach T, Yosef N, Ahituv N, Kreimer A. Comprehensive network modeling approaches unravel dynamic enhancer-promoter interactions across neural differentiation. bioRxiv : the preprint server for biology 2024. PMID: 38826254


  5. Chardon FM, McDiarmid TA, Page NF, Martin B, Domcke S, Regalado SG, Lalanne J?, Calderon D, Starita LM, Sanders SJ, Ahituv N, Shendure J. Multiplex, single-cell CRISPRa screening for cell type specific regulatory elements. bioRxiv : the preprint server for biology 2023. PMID: 37034704


  6. Kosicki M, Cintrón DL, Page NF, Georgakopoulos-Soares I, Akiyama JA, Plajzer-Frick I, Novak CS, Kato M, Hunter RD, von Maydell K, Barton S, Godfrey P, Beckman E, Sanders SJ, Pennacchio LA, Ahituv N. Massively parallel reporter assays and mouse transgenic assays provide complementary information about neuronal enhancer activity. bioRxiv : the preprint server for biology 2024. PMID: 38712228


  7. Matharu N, Zhao J, Sohota A, Deng L, Hung Y, Li Z, Sims J, Rattanasopha S, Meyer J, Carbone L, Kircher M, Ahituv N. Massively parallel jumping assay decodes Alu retrotransposition activity. bioRxiv : the preprint server for biology 2024. PMID: 38659854


  8. Ushiki A, Sheng RR, Zhang Y, Zhao J, Nobuhara M, Murray E, Ruan X, Rios JJ, Wise CA, Ahituv N. Deletion of Pax1 scoliosis-associated regulatory elements leads to a female-biased tail abnormality. Cell reports 2024. PMID: 38461417


  9. Inoue F, Eckalbar WL, Wang Y, Murphy KK, Matharu N, Vaisse C, Ahituv N. Author Correction: Genomic and epigenomic mapping of leptin-responsive neuronal populations involved in body weight regulation. Nature metabolism 2024. PMID: 38429391


  10. Liu J, Ashuach T, Inoue F, Ahituv N, Yosef N, Kreimer A. Optimizing sequence design strategies for perturbation MPRAs: a computational evaluation framework. Nucleic acids research 2024. PMID: 38296821


  11. Gordon WE, Baek S, Nguyen HP, Kuo YM, Bradley R, Fong SL, Kim N, Galazyuk A, Lee I, Ingala MR, Simmons NB, Schountz T, Cooper LN, Georgakopoulos-Soares I, Hemberg M, Ahituv N. Author Correction: Integrative single-cell characterization of a frugivorous and an insectivorous bat kidney and pancreas. Nature communications 2024. PMID: 38413559


  12. Wang C, Derderian KD, Hamada E, Zhou X, Nelson AD, Kyoung H, Ahituv N, Bouvier G, Bender KJ. Impaired cerebellar plasticity hypersensitizes sensory reflexes in SCN2A-associated ASD. Neuron 2024. PMID: 38412857


  13. Capauto D, Wang Y, Wu F, Norton S, Mariani J, Inoue F, Crawford GE, Ahituv N, Abyzov A, Vaccarino FM. Characterization of enhancer activity in early human neurodevelopment using Massively Parallel Reporter Assay (MPRA) and forebrain organoids. Scientific Reports 2024. PMID: 38365907


  14. Hao Yu, Anas M Khanshour, Aki Ushiki, Nao Otomo, Yoshinao Koike, Elisabet Einarsdottir, Yanhui Fan, Lilian Antunes, Yared H Kidane, Reuel Cornelia, Rory R Sheng, Yichi Zhang, Jimin Pei, Nick V Grishin, Bret M Evers, Jason Pui Yin Cheung, John A Herring, Chikashi Terao, You-qiang Song, Christina A Gurnett, Paul Gerdhem, Shiro Ikegawa, Jonathan J Rios, Nadav Ahituv, Carol A Wise. Association of genetic variation in COL11A1 with adolescent idiopathic scoliosis. eLife 2024. PMID:


  15. Yu H, Khanshour AM, Ushiki A, Otomo N, Koike Y, Einarsdottir E, Fan Y, Antunes L, Kidane YH, Cornelia R, Sheng RR, Zhang Y, Pei J, Grishin NV, Evers BM, Cheung JPY, Herring JA, Terao C, Song YQ, Gurnett CA, Gerdhem P, Ikegawa S, Rios JJ, Ahituv N, Wise CA. Association of genetic variation in COL11A1 with adolescent idiopathic scoliosis. eLife 2024. PMID: 38277211


  16. Feng Y, Xie N, Inoue F, Fan S, Saskin J, Zhang C, Zhang F, Hansen MEB, Nyambo T, Mpoloka SW, Mokone GG, Fokunang C, Belay G, Njamnshi AK, Marks MS, Oancea E, Ahituv N, Tishkoff SA. Integrative functional genomic analyses identify genetic variants influencing skin pigmentation in Africans. Nature genetics 2024. PMID: 38200130


  17. Gordon WE, Baek S, Nguyen HP, Kuo YM, Bradley R, Fong SL, Kim N, Galazyuk A, Lee I, Ingala MR, Simmons NB, Schountz T, Cooper LN, Georgakopoulos-Soares I, Hemberg M, Ahituv N. Integrative single-cell characterization of a frugivorous and an insectivorous bat kidney and pancreas. Nature communications 2024. PMID: 38195585


  18. Okhovat M, VanCampen J, Nevonen KA, Harshman L, Li W, Layman CE, Ward S, Herrera J, Wells J, Sheng RR, Mao Y, Ndjamen B, Lima AC, Vigh-Conrad KA, Stendahl AM, Yang R, Fedorov L, Matthews IR, Easow SA, Chan DK, Jan TA, Eichler EE, Rugonyi S, Conrad DF, Ahituv N, Carbone L. TAD evolutionary and functional characterization reveals diversity in mammalian TAD boundary properties and function. Nature communications 2023. PMID: 38062027


  19. Arnould C, Rocher V, Saur F, Bader AS, Muzzopappa F, Collins S, Lesage E, Le Bozec B, Puget N, Clouaire T, Mangeat T, Mourad R, Ahituv N, Noordermeer D, Erdel F, Bushell M, Marnef A, Legube G. Author Correction: Chromatin compartmentalization regulates the response to DNA damage. Nature 2023. PMID: 37974007


  20. Yu H, Khanshour AM, Ushiki A, Otomo N, Koike Y, Einarsdottir E, Fan Y, Antunes L, Kidane YH, Cornelia R, Sheng R, Zhang Y, Pei J, Grishin NV, Evers BM, Yin Cheung JP, Herring JA, Terao C, Song YQ, Gurnett CA, Gerdhem P, Ikegawa S, Rios JJ, Ahituv N, Wise CA. Association of an estrogen-sensitive Pax1-Col11a1-Mmp3 signaling axis with adolescent idiopathic scoliosis. bioRxiv : the preprint server for biology 2023. PMID: 37292598


  21. Zhao J, Baltoumas FA, Konnaris MA, Mouratidis I, Liu Z, Sims J, Agarwal V, Pavlopoulos GA, Georgakopoulos-Soares I, Ahituv N. MPRAbase: A Massively Parallel Reporter Assay Database. bioRxiv : the preprint server for biology 2023. PMID: 38045264


  22. Arnould C, Rocher V, Saur F, Bader AS, Muzzopappa F, Collins S, Lesage E, Le Bozec B, Puget N, Clouaire T, Mangeat T, Mourad R, Ahituv N, Noordermeer D, Erdel F, Bushell M, Marnef A, Legube G. Chromatin compartmentalization regulates the response to DNA damage. Nature 2023. PMID: 37853125


  23. Liu J, Ashuach T, Inoue F, Ahituv N, Yosef N, Kreimer A. Best practices for perturbation MPRA-a computational evaluation framework of sequence design strategies. bioRxiv : the preprint server for biology 2023. PMID: 37808807


  24. Golan Y, Ilala M, Li L, Gay C, Hunagund S, Lin CY, Cassidy AG, Jigmeddagva U, Matsui Y, Ozarslan N, Asiodu IV, Ahituv N, Flaherman VJ, Gaw SL, Prahl M. Milk antibody response after 3rd COVID-19 vaccine and SARS-CoV-2 infection and implications for infant protection. iScience 2023. PMID: 37731614


  25. Capauto D, Wang Y, Wu F, Norton S, Mariani J, Inoue F, Crawford GE, PsychENCODE Consortium, Ahituv N, Abyzov A, Vaccarino FM. Characterization of enhancer activity in early human neurodevelopment using Massively parallel reporter assay (MPRA) and forebrain organoids. bioRxiv : the preprint server for biology 2023. PMID: 37645832


  26. Wang C, Derderian KD, Hamada E, Zhou X, Nelson AD, Kyoung H, Ahituv N, Bouvier G, Bender KJ. Impaired cerebellar plasticity hypersensitizes sensory reflexes in SCN2A -associated ASD. bioRxiv : the preprint server for biology 2023. PMID: 37333267


  27. Keough KC, Whalen S, Inoue F, Przytycki PF, Fair T, Deng C, Steyert M, Ryu H, Lindblad-Toh K, Karlsson E, Zoonomia Consortium?, Nowakowski T, Ahituv N, Pollen A, Pollard KS, Andrews G, Armstrong JC, Bianchi M, Birren BW, Bredemeyer KR, Breit AM, Christmas MJ, Clawson H, Damas J, Di Palma F, Diekhans M, Dong MX, Eizirik E, Fan K, Fanter C, Foley NM, Forsberg-Nilsson K, Garcia CJ, Gatesy J, Gazal S, Genereux DP, Goodman L, Grimshaw J, Halsey MK, Harris AJ, Hickey G, Hiller M, Hindle AG, Hubley RM, Hughes GM, Johnson J, Juan D, Kaplow IM, Karlsson EK, Keough KC, Kirilenko B, Koepfli KP, Korstian JM, Kowalczyk A, Kozyrev SV, Lawler AJ, Lawless C, Lehmann T, Levesque DL, Lewin HA, Li X, Lind A, Lindblad-Toh K, Mackay-Smith A, Marinescu VD, Marques-Bonet T, Mason VC, Meadows JRS, Meyer WK, Moore JE, Moreira LR, Moreno-Santillan DD, Morrill KM, Muntan? G, Murphy WJ, Navarro A, Nweeia M, Ortmann S, Osmanski A, Paten B, Paulat NS, Pfenning AR, Phan BN, Pollard KS, Pratt HE, Ray DA, Reilly SK, Rosen JR, Ruf I, Ryan L, Ryder OA, Sabeti PC, Sch?ffer DE, Serres A, Shapiro B, Smit AFA, Springer M, Srinivasan C, Steiner C, Storer JM, Sullivan KAM, Sullivan PF, Sundstr?m E, Supple MA, Swofford R, Talbot JE, Teeling E, Turner-Maier J, Valenzuela A, Wagner F, Wallerman O, Wang C, Wang J, Weng Z, Wilder AP, Wirthlin ME, Xue JR, Zhang X. Three-dimensional genome rewiring in loci with human accelerated regions. Science (New York, N.Y.) 2023. PMID: 37104607


  28. Mouratidis I, Chan CSY, Chantzi N, Tsiatsianis GC, Hemberg M, Ahituv N, Georgakopoulos-Soares I. Quasi-prime peptides: identification of the shortest peptide sequences unique to a species. NAR genomics and bioinformatics 2023. PMID: 37101657


  29. Georgakopoulos-Soares I, Deng C, Agarwal V, Chan CSY, Zhao J, Inoue F, Ahituv N. Transcription factor binding site orientation and order are major drivers of gene regulatory activity. Nature communications 2023. PMID: 37087538


  30. Ushiki A, Sheng RR, Zhang Y, Zhao J, Nobuhara M, Murray E, Ruan X, Rios JJ, Wise CA, Ahituv N. Deletion of Pax1 scoliosis-associated regulatory elements leads to a female-biased tail abnormality. bioRxiv : the preprint server for biology 2023. PMID: 37090618


  31. Ofer Yizhar Barnea, Ilias Georgakopoulos-Soares, Nadav Ahituv, Jocelyn Chapman, Martin Hemberg, Ioannis Mouratidis, Konstantinos Syrigos, Nikolaos Syrigos, Ioannis Vathiotis, Mayank Mahajan, Emmanouil Panagiotou, Andriani Charpidou, Mark Kvale, Candace S. Chan, Ryder Easterlin. Abstract 991: Leveraging sequences missing from the human genome to detect cancer. Cancer research 2023. PMID:


  32. Nguyen HP, Sheng R, Murray E, Ito Y, Bruck M, Biellak C, An K, Lynce F, Dillon DA, Magbanua MJM, Huppert LA, Hammerlindl H, Esserman L, Rosenbluth JM, Ahituv N. Implantation of engineered adipocytes that outcompete tumors for resources suppresses cancer progression. bioRxiv : the preprint server for biology 2023. PMID: 37034710


  33. Okhovat M, VanCampen J, Lima AC, Nevonen KA, Layman CE, Ward S, Herrera J, Stendahl AM, Yang R, Harshman L, Li W, Sheng RR, Mao Y, Fedorov L, Ndjamen B, Vigh-Conrad KA, Matthews IR, Easow SA, Chan DK, Jan TA, Eichler EE, Rugonyi S, Conrad DF, Ahituv N, Carbone L. TAD Evolutionary and functional characterization reveals diversity in mammalian TAD boundary properties and function. bioRxiv : the preprint server for biology 2023. PMID: 36945527


  34. Agarwal V, Inoue F, Schubach M, Martin BK, Dash PM, Zhang Z, Sohota A, Noble WS, Yardimci GG, Kircher M, Shendure J, Ahituv N. Massively parallel characterization of transcriptional regulatory elements in three diverse human cell types. bioRxiv : the preprint server for biology 2023. PMID: 36945371


  35. Zeng B, Bendl J, Deng C, Lee D, Misir R, Reach SM, Kleopoulos SP, Auluck P, Marenco S, Lewis DA, Haroutunian V, Ahituv N, Fullard JF, Hoffman GE, Roussos P. Genetic regulation of cell-type specific chromatin accessibility shapes the etiology of brain diseases. bioRxiv : the preprint server for biology 2023. PMID: 37090548


  36. Deng C, Whalen S, Steyert M, Ziffra R, Przytycki PF, Inoue F, Pereira DA, Capauto D, Norton S, Vaccarino FM, Pollen A, Nowakowski TJ, Ahituv N, Pollard KS. Massively parallel characterization of psychiatric disorder-associated and cell-type-specific regulatory elements in the developing human cortex. bioRxiv : the preprint server for biology 2023. PMID: 36824845


  37. Gordon WE, Baek S, Nguyen HP, Kuo YM, Bradley R, Galazyuk A, Lee I, Ingala MR, Simmons NB, Schountz T, Cooper LN, Georgakopoulos-Soares I, Hemberg M, Ahituv N. Integrative single-cell characterization of frugivory adaptations in the bat kidney and pancreas. bioRxiv : the preprint server for biology 2023. PMID: 36824791


  38. Koesterich J, An JY, Inoue F, Sohota A, Ahituv N, Sanders SJ, Kreimer A. Characterization of De Novo Promoter Variants in Autism Spectrum Disorder with Massively Parallel Reporter Assays. International journal of molecular sciences 2023. PMID: 36834916


  39. Liu Z, Georgakopoulos-Soares I, Ahituv N, Wong KC. Risk scoring based on DNA methylation-driven related DEGs for colorectal cancer prognosis with systematic insights. Life sciences 2023. PMID: 36682524


  40. Whalen S, Inoue F, Ryu H, Fair T, Markenscoff-Papadimitriou E, Keough K, Kircher M, Martin B, Alvarado B, Elor O, Laboy Cintron D, Williams A, Hassan Samee MA, Thomas S, Krencik R, Ullian EM, Kriegstein A, Rubenstein JL, Shendure J, Pollen AA, Ahituv N, Pollard KS. Machine learning dissection of human accelerated regions in primate neurodevelopment. Neuron 2023. PMID: 36640767


  41. Golan Y, Ilala M, Gay C, Hunagund S, Lin CY, Cassidy AG, Jigmeddagva U, Li L, Ozarslan N, Asiodu IV, Ahituv N, Flaherman VJ, Gaw SL, Prahl M. Milk antibody response after 3rd dose of COVID-19 mRNA vaccine and SARS-CoV-2 breakthrough infection and implications for infant protection. medRxiv : the preprint server for health sciences 2022. PMID: 36561188


  42. Koh KD, Bonser LR, Eckalbar WL, Yizhar-Barnea O, Shen J, Zeng X, Hargett KL, Sun DI, Zlock LT, Finkbeiner WE, Ahituv N, Erle DJ. Genomic characterization and therapeutic utilization of IL-13-responsive sequences in asthma. Cell Genomics 2022. PMID: 36777184


  43. Georgakopoulos-Soares I, Chan CSY, Ahituv N, Hemberg M. Author Correction: High-throughput techniques enable advances in the roles of DNA and RNA secondary structures in transcriptional and post-transcriptional gene regulation. Genome biology 2022. PMID: 35897074


  44. Georgakopoulos-Soares I, Chan CSY, Ahituv N, Hemberg M. High-throughput techniques enable advances in the roles of DNA and RNA secondary structures in transcriptional and post-transcriptional gene regulation. Genome biology 2022. PMID: 35851062


  45. Choquet H, Li W, Yin J, Bradley R, Hoffmann TJ, Nandakumar P, 23andMe Research Team, Mostaedi R, Tian C, Ahituv N, Jorgenson E. Ancestry- and sex-specific effects underlying inguinal hernia susceptibility identified in a multiethnic genome-wide association study meta-analysis. 2022. PMID: 35022708


  46. Nyquist SK, Gao P, Haining TKJ, Retchin MR, Golan Y, Drake RS, Kolb K, Mead BE, Ahituv N, Martinez ME, Shalek AK, Berger B, Goods BA. Cellular and transcriptional diversity over the course of human lactation. 2022. PMID: 35377806


  47. Kreimer A, Ashuach T, Inoue F, Khodaverdian A, Deng C, Yosef N, Ahituv N. Massively parallel reporter perturbation assays uncover temporal regulatory architecture during neural differentiation. 2022. PMID: 35315433


  48. Georgakopoulos-Soares I, Victorino J, Parada GE, Agarwal V, Zhao J, Wong HY, Umar MI, Elor O, Muhwezi A, An JY, Sanders SJ, Kwok CK, Inoue F, Hemberg M, Ahituv N. High-throughput characterization of the role of non-B DNA motifs on promoter function. 2022. PMID: 35573091


  49. Golan Y, Prahl M, Cassidy AG, Gay C, Wu AHB, Jigmeddagva U, Lin CY, Gonzalez VJ, Basilio E, Chidboy MA, Warrier L, Buarpung S, Li L, Murtha AP, Asiodu IV, Ahituv N, Flaherman VJ, Gaw SL. COVID-19 mRNA Vaccination in Lactation: Assessment of Adverse Events and Vaccine Related Antibodies in Mother-Infant Dyads. 2021. PMID: 34804068


  50. Krause WC, Rodriguez R, Gegenhuber B, Matharu N, Rodriguez AN, Padilla-Roger AM, Toma K, Herber CB, Correa SM, Duan X, Ahituv N, Tollkuhn J, Ingraham HA. Oestrogen engages brain MC4R signalling to drive physical activity in female mice. 2021. PMID: 34646010


  51. Ziffra RS, Kim CN, Ross JM, Wilfert A, Turner TN, Haeussler M, Casella AM, Przytycki PF, Keough KC, Shin D, Bogdanoff D, Kreimer A, Pollard KS, Ament SA, Eichler EE, Ahituv N, Nowakowski TJ. Single-cell epigenomics reveals mechanisms of human cortical development. 2021. PMID: 34616060


  52. Golan Y, Prahl M, Cassidy A, Lin CY, Ahituv N, Flaherman VJ, Gaw SL. Evaluation of Messenger RNA From COVID-19 BTN162b2 and mRNA-1273 Vaccines in Human Milk. 2021. PMID: 34228115


  53. Golan Y, Prahl M, Cassidy AG, Gay C, Wu AHB, Jigmeddagva U, Lin CY, Gonzalez VJ, Basilio E, Warrier L, Buarpung S, Li L, Asiodu IV, Ahituv N, Flaherman VJ, Gaw SL. COVID-19 mRNA Vaccination in Lactation: Assessment of adverse effects and transfer of anti-SARS-CoV2 antibodies from mother to child. 2021. PMID: 34373861


  54. Georgakopoulos-Soares I, Yizhar-Barnea O, Mouratidis I, Hemberg M, Ahituv N. Absent from DNA and protein: genomic characterization of nullomers and nullpeptides across functional categories and evolution. 2021. PMID: 34433494


  55. Gordon MG, Inoue F, Martin B, Schubach M, Agarwal V, Whalen S, Feng S, Zhao J, Ashuach T, Ziffra R, Kreimer A, Georgakopoulos-Soares I, Yosef N, Ye CJ, Pollard KS, Shendure J, Kircher M, Ahituv N. Author Correction: lentiMPRA and MPRAflow for high-throughput functional characterization of gene regulatory elements. Nature protocols 2021. PMID: 33128032


  56. Weiss CV, Harshman L, Inoue F, Fraser HB, Petrov DA, Ahituv N, Gokhman D. The cis-regulatory effects of modern human-specific variants. 2021. PMID: 33885362


  57. Ushiki A, Zhang Y, Xiong C, Zhao J, Georgakopoulos-Soares I, Kane L, Jamieson K, Bamshad MJ, Nickerson DA, University of Washington Center for Mendelian Genomics , Shen Y, Lettice LA, Silveira-Lucas EL, Petit F, Ahituv N. Deletion of CTCF sites in the SHH locus alters enhancer-promoter interactions and leads to acheiropodia. 2021. PMID: 33863876


  58. Gokhman D, Agoglia RM, Kinnebrew M, Gordon W, Sun D, Bajpai VK, Naqvi S, Chen C, Chan A, Chen C, Petrov DA, Ahituv N, Zhang H, Mishina Y, Wysocka J, Rohatgi R, Fraser HB. Publisher Correction: Human-chimpanzee fused cells reveal cis-regulatory divergence underlying skeletal evolution. 2021. PMID: 33762754


  59. Gokhman D, Agoglia RM, Kinnebrew M, Gordon W, Sun D, Bajpai VK, Naqvi S, Chen C, Chan A, Chen C, Petrov DA, Ahituv N, Zhang H, Mishina Y, Wysocka J, Rohatgi R, Fraser HB. Human-chimpanzee fused cells reveal cis-regulatory divergence underlying skeletal evolution. 2021. PMID: 33731941


  60. Makki N, Zhao J, Liu Z, Eckalbar WL, Ushiki A, Khanshour AM, Wu J, Rios J, Gray RS, Wise CA, Ahituv N. Genomic characterization of the adolescent idiopathic scoliosis-associated transcriptome and regulome. Human molecular genetics 2021. PMID: 33179741


  61. Georgakopoulos-Soares I, Mouratidis I, Parada GE, Matharu N, Hemberg M, Ahituv N. Asymmetron: a toolkit for the identification of strand asymmetry patterns in biological sequences. 2021. PMID: 33211865


  62. Klein JC, Agarwal V, Inoue F, Keith A, Martin B, Kircher M, Ahituv N, Shendure J. A systematic evaluation of the design and context dependencies of massively parallel reporter assays. 2020. PMID: 33046894


  63. Matharu N, Ahituv N. Modulating gene regulation to treat genetic disorders. 2020. PMID: 33020616


  64. Okhovat M, Nevonen KA, Davis BA, Michener P, Ward S, Milhaven M, Harshman L, Sohota A, Fernandes JD, Salama SR, O'Neill RJ, Ahituv N, Veeramah KR, Carbone L. Co-option of the lineage-specific LAVA retrotransposon in the gibbon genome. Proceedings of the National Academy of Sciences of the United States of America 2020. PMID: 32690705


  65. Gordon MG, Inoue F, Martin B, Schubach M, Agarwal V, Whalen S, Feng S, Zhao J, Ashuach T, Ziffra R, Kreimer A, Georgakopoulous-Soares I, Yosef N, Ye CJ, Pollard KS, Shendure J, Kircher M, Ahituv N. lentiMPRA and MPRAflow for high-throughput functional characterization of gene regulatory elements. Nature protocols 2020. PMID: 32641802


  66. Linhares ND, Pereira DA, Conceição IM, Franco GR, Eckalbar WL, Ahituv N, Luizon MR. Noncoding SNPs associated with increased GDF15 levels located in a metformin-activated enhancer region upstream of GDF15. Pharmacogenomics 2020. PMID: 32427048


  67. Wise CA, Sepich D, Ushiki A, Khanshour AM, Kidane YH, Makki N, Gurnett CA, Gray RS, Rios JJ, Ahituv N, Solnica-Krezel L. The cartilage matrisome in adolescent idiopathic scoliosis. Bone research 2020. PMID: 32195011


  68. Zeng Y, Cao Y, Halevy RS, Nguyen P, Liu D, Zhang X, Ahituv N, Han JJ. Characterization of functional transposable element enhancers in acute myeloid leukemia. Science China. Life sciences 2020. PMID: 32170627


  69. Hardin A, Nevonen KA, Eckalbar WL, Carbone L, Ahituv N. Comparative genomic characterization of the multimammate mouse Mastomys coucha. Molecular biology and evolution 2019. PMID: 31424545


  70. 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 genetics 2019. PMID: 31652254


  71. 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. PMID: 31631012


  72. 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. 2019. PMID:


  73. Ashuach T, Fischer DS, Kreimer A, Ahituv N, Theis FJ, Yosef N. MPRAnalyze: statistical framework for massively parallel reporter assays. Genome biology 2019. PMID: 31477158


  74. 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. Genetics in medicine : official journal of the American College of Medical Genetics 2019. PMID: 31395945


  75. 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. Nature communications 2019. PMID: 31395865


  76. 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. Human mutation 2019. PMID: 31106481


  77. Kreimer A, Yan Z, Ahituv N, Yosef N. Meta-analysis of massively parallel reporter assays enables prediction of regulatory function across cell types. Human mutation 2019. PMID: 31131957


  78. 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. Nature metabolism 2019. PMID: 31535083


  79. 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. PMID: 30849375


  80. 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. Proceedings of the National Academy of Sciences of the United States of America 2019. PMID: 30755537


  81. 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. PMID: 30612741


  82. 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 (New York, N.Y.) 2018. PMID: 30545852


  83. 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 (New York, N.Y.) 2018. PMID: 30545847


  84. 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. Human molecular genetics 2018. PMID: 30395268


  85. Potuijt JWP, Galjaard RH, van der Spek PJ, van Nieuwenhoven CA, Ahituv N, Oberg KC, Hovius SER. A multidisciplinary review of triphalangeal thumb. The Journal of hand surgery, European volume 2018. PMID: 30318985


  86. 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. Proceedings of the National Academy of Sciences of the United States of America 2018. PMID: 30297428


  87. Mak AC, 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. American journal of respiratory and critical care medicine 2018. PMID: 29509491


  88. 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 research 2018. PMID: 29717003


  89. Nadav Ahituv. Functional Characterization of Gene Regulatory Elements. 2018. PMID:


  90. Sukenik Halevy R, Chien HC, Heinz B, Bamshad MJ, Nickerson DA. Mutations in the fourth ß-propeller domain of LRP4 are associated with isolated syndactyly with fusion of the third and fourth fingers. Human mutation 2018. PMID: 29524275


  91. 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. Genetics in medicine : official journal of the American College of Medical Genetics 2018. PMID: 29543231


  92. Eclov RJ, Kim MJ, Smith R, Ahituv N, Kroetz DL. Rare Variants in the ABCG2 Promoter Modulate In Vivo Activity. Drug metabolism and disposition: the biological fate of chemicals 2018. PMID: 29467213


  93. Eclov RJ, Kim MJ, Chhibber A, Smith RP, Ahituv N, Kroetz DL. ABCG2 regulatory single-nucleotide polymorphisms alter in vivo enhancer activity and expression. Volume 27 of Issue 12. Pharmacogenetics and genomics 2017. PMID: 28930109


  94. Zhao W, Siegel D, Biton A, Tonqueze OL, Zaitlen N, Ahituv N, Erle DJ. CRISPR-Cas9-mediated functional dissection of 3'-UTRs. Volume 45 of Issue 18. Nucleic acids research 2017. PMID: 28985357


  95. Starita LM, Ahituv N, Dunham MJ, Kitzman JO, Roth FP, Seelig G, Shendure J, Fowler DM. Variant Interpretation: Functional Assays to the Rescue. Volume 101 of Issue 3. American journal of human genetics 2017. PMID: 28886340


  96. 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. Volume 7 of Issue 1. Scientific Reports 2017. PMID: 28790348


  97. Chatterjee S, Ahituv N. Gene Regulatory Elements, Major Drivers of Human Disease. Volume 18. Annual review of genomics and human genetics 2017. PMID: 28399667


  98. Petit F, Sears KE, Ahituv N. Limb development: a paradigm of gene regulation. Volume 18 of Issue 4. Nature reviews. Genetics 2017. PMID: 28163321


  99. 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. Volume 12 of Issue 11. PLoS genetics 2016. PMID: 27902686


  100. Eclov RJ, Kim MJ, Smith RP, Liang X, Ahituv N, Kroetz DL. In Vivo Hepatic Enhancer Elements in the Human ABCG2 Locus. Volume 45 of Issue 2. Drug metabolism and disposition: the biological fate of chemicals 2016. PMID: 27856528


  101. 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. Volume 27 of Issue 1. Genome research 2016. PMID: 27831498


  102. 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. Volume 12 of Issue 3. PLoS genetics 2016. PMID: 27019019


  103. 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. Volume 48 of Issue 5. Nature genetics 2016. PMID: 27019111


  104. Ahituv N. Exonic enhancers: proceed with caution in exome and genome sequencing studies. Volume 8 of Issue 1. Genome medicine 2016. PMID: 26856702


  105. 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. Molecular psychiatry 2016. PMID: 26830142


  106. 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. Volume 6. Nature communications 2015. PMID: 26686553


  107. Matharu N, Ahituv N. Minor Loops in Major Folds: Enhancer-Promoter Looping, Chromatin Restructuring, and Their Association with Transcriptional Regulation and Disease. Volume 11 of Issue 12. PLoS genetics 2015. PMID: 26632825


  108. Hesse RG, Kouklis GK, Ahituv N, Pomerantz JH. The human ARF tumor suppressor senses blastema activity and suppresses epimorphic tissue regeneration. Volume 4. eLife 2015. PMID: 26575287


  109. Luizon MR, Ahituv N. Uncovering drug-responsive regulatory elements. Volume 16 of Issue 16. Pharmacogenomics 2015. PMID: 26555224


  110. 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. Volume 16. BMC genomics 2015. PMID: 26519295


  111. 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. Volume 18 of Issue 1. Evolution & development 2015. PMID: 26086993


  112. Inoue F, Ahituv N. Decoding enhancers using massively parallel reporter assays. Volume 106 of Issue 3. Genomics 2015. PMID: 26072433


  113. Sharma S, Londono D, Eckalbar WL, Gao X, Zhang D, Mauldin K, Kou I, Takahashi A, Matsumoto M, Kamiya N, Murphy KK, Cornelia R. A PAX1 enhancer locus is associated with susceptibility to idiopathic scoliosis in females. Volume 6. Nature communications 2015. PMID: 25784220


  114. 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. Volume 159 of Issue 3. Cell 2014. PMID: 25417106


  115. 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. Volume 10 of Issue 10. PLoS genetics 2014. PMID: 25340400


  116. 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. Volume 10 of Issue 10. PLoS genetics 2014. PMID: 25275310


  117. VanderMeer JE, Smith RP, Jones SL, Ahituv N. Genome-wide identification of signaling center enhancers in the developing limb. Volume 141 of Issue 21. Development (Cambridge, England) 2014. PMID: 25273087


  118. 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. Translational psychiatry 2014. PMID: 25180570


  119. Erwin GD, Oksenberg N, Truty RM, Kostka D, Murphy KK, Ahituv N, Pollard KS, Capra JA. Integrating diverse datasets improves developmental enhancer prediction. Volume 10 of Issue 6. PLoS computational biology 2014. PMID: 24967590


  120. 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. Volume 35 of Issue 8. Human mutation 2014. PMID: 24777739


  121. 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. Volume 2 of Issue 5. Molecular genetics & genomic medicine 2014. PMID: 25333065


  122. 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. Volume 9 of Issue 5. PloS one 2014. PMID: 24820477


  123. 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. Volume 504 of Issue 7479. Nature 2013. PMID: 24213634


  124. Kim MJ, Oksenberg N, Hoffmann TJ, Vaisse C, Ahituv N. Functional characterization of SIM1-associated enhancers. Volume 23 of Issue 7. Human molecular genetics 2013. PMID: 24203700


  125. Booker BM, Murphy KK, Ahituv N. Functional analysis of limb enhancers in the developing fin. Volume 223 of Issue 6. Development genes and evolution 2013. PMID: 24068387


  126. Zhao J, Shi H, Ahituv N. Classification of topological domains based on gene expression and regulation. Volume 56 of Issue 7. Genome 2013. PMID: 24099394


  127. Oksenberg N, Ahituv N. The role of AUTS2 in neurodevelopment and human evolution. Volume 29 of Issue 10. Trends in genetics : TIG 2013. PMID: 24008202


  128. 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. Volume 45 of Issue 9. Nature genetics 2013. PMID: 23892608


  129. 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. Volume 14 of Issue 7. Genome biology 2013. PMID: 23867016


  130. Oksenberg N, Stevison L, Wall JD, Ahituv N. Function and regulation of AUTS2, a gene implicated in autism and human evolution. Volume 9 of Issue 1. PLoS genetics 2013. PMID: 23349641


  131. Taher L, Smith RP, Kim MJ, Ahituv N, Ovcharenko I. Sequence signatures extracted from proximal promoters can be used to predict distal enhancers. Volume 14 of Issue 10. Genome biology 2013. PMID: 24156763


  132. Kim MJ, Ahituv N. The hydrodynamic tail vein assay as a tool for the study of liver promoters and enhancers. Volume 1015. Methods in molecular biology (Clifton, N.J.) 2013. PMID: 23824863


  133. 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. Volume 488 of Issue 7413. Nature 2012. PMID: 22932389


  134. Birnbaum RY, Everman DB, Murphy KK, Gurrieri F, Schwartz CE, Ahituv N. Functional characterization of tissue-specific enhancers in the DLX5/6 locus. Volume 21 of Issue 22. Human molecular genetics 2012. PMID: 22914741


  135. Clarke SL, VanderMeer JE, Wenger AM, Schaar BT, Ahituv N, Bejerano G. Human developmental enhancers conserved between deuterostomes and protostomes. Volume 8 of Issue 8. PLoS genetics 2012. PMID: 22876195


  136. 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. Volume 158A of Issue 8. American journal of medical genetics. Part A 2012. PMID: 22786669


  137. 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. American journal of medical genetics. Part A 2012. PMID: 22678995


  138. Smith RP, Lam ET, Markova S, Yee SW, Ahituv N. Pharmacogene regulatory elements: from discovery to applications. Volume 4 of Issue 5. Genome medicine 2012. PMID: 22630332


  139. 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. Volume 33 of Issue 7. Human mutation 2012. PMID: 22495965


  140. 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. Volume 22 of Issue 6. Genome research 2012. PMID: 22442009


  141. 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. Volume 30 of Issue 3. Nature biotechnology 2012. PMID: 22371081


  142. Julia E. VanderMeer, Nadav Ahituv. Cis-Regulatory Enhancer Mutations are a Cause of Human Limb Malformations. Gene Regulatory Sequences and Human Disease 2012. PMID:


  143. Nadav Ahituv. Gene Regulatory Elements. Gene Regulatory Sequences and Human Disease 2012. PMID:


  144. Ahituv N. Location, location, cis-mutation. Volume 32 of Issue 12. Human mutation 2011. PMID: 22083934


  145. Kim MJ, Skewes-Cox P, Fukushima H, Hesselson S, Yee SW, Ramsey LB, Nguyen L, Eshragh JL, Castro RA, Wen CC, Stryke D, Johns SJ, Ferrin TE, Kwok PY, Relling MV, Giacomini KM, Kroetz DL, Ahituv N. Functional characterization of liver enhancers that regulate drug-associated transporters. Volume 89 of Issue 4. Clinical pharmacology and therapeutics 2011. PMID: 21368754


  146. VanderMeer JE, Ahituv N. cis-regulatory mutations are a genetic cause of human limb malformations. Volume 240 of Issue 5. Developmental dynamics : an official publication of the American Association of Anatomists 2011. PMID: 21509892


  147. Ha Choi J, Wah Yee S, Kim MJ, Nguyen L, Ho Lee J, Kang JO, Hesselson S, Castro RA, Stryke D, Johns SJ, Kwok PY, Ferrin TE, Goo Lee M, Black BL, Ahituv N, Giacomini KM. Identification and characterization of novel polymorphisms in the basal promoter of the human transporter, MATE1. Volume 19 of Issue 10. Pharmacogenetics and genomics 2009. PMID: 19745787


  148. Kroetz DL, Ahituv N, Burchard EG, Guo S, Sali A, Giacomini KM. Institutional Profile: The University of California Pharmacogenomics Center: at the interface of genomics, biological mechanisms and drug therapy. Volume 10 of Issue 10. Pharmacogenomics 2009. PMID: 19842929


  149. Yee SW, Shima JE, Hesselson S, Nguyen L, De Val S, Lafond RJ, Kawamoto M, Johns SJ, Stryke D, Kwok PY, Ferrin TE, Black BL, Gurwitz D, Ahituv N, Giacomini KM. Identification and characterization of proximal promoter polymorphisms in the human concentrative nucleoside transporter 2 (SLC28A2). Volume 328 of Issue 3. The Journal of pharmacology and experimental therapeutics 2008. PMID: 19098160


  150. Calton MA, Ersoy BA, Zhang S, Kane JP, Malloy MJ, Pullinger CR, Bromberg Y, Pennacchio LA, Dent R, McPherson R, Ahituv N, Vaisse C. Association of functionally significant Melanocortin-4 but not Melanocortin-3 receptor mutations with severe adult obesity in a large North American case-control study. Volume 18 of Issue 6. Human molecular genetics 2008. PMID: 19091795


  151. Nadav Ahituv. Introduction to Computational Genomics: A Case Studies Approach Nello Cristianini and Matthew W. Hahn. Briefings in Bioinformatics 2008. PMID:


  152. Svenson KL, Ahituv N, Durgin RS, Savage H, Magnani PA, Foreman O, Paigen B, Peters LL. A new mouse mutant for the LDL receptor identified using ENU mutagenesis. Volume 49 of Issue 11. Journal of lipid research 2008. PMID: 18632552


  153. Goren A, Kim E, Amit M, Bochner R, Lev-Maor G, Ahituv N, Ast G. Alternative approach to a heavy weight problem. Volume 18 of Issue 2. Genome research 2007. PMID: 18096750


  154. Ahituv N, Akiyama J, Chapman-Helleboid A, Fruchart J, Pennacchio LA. In vivo characterization of human APOA5 haplotypes. Volume 90 of Issue 6. Genomics 2007. PMID: 17936576


  155. Costford SR, Kavaslar N, Ahituv N, Chaudhry SN, Schackwitz WS, Dent R, Pennacchio LA, McPherson R, Harper ME. Gain-of-function R225W mutation in human AMPKgamma(3) causing increased glycogen and decreased triglyceride in skeletal muscle. Volume 2 of Issue 9. PloS one 2007. PMID: 17878938


  156. Ahituv N, Zhu Y, Visel A, Holt A, Afzal V, Pennacchio LA, Rubin EM. Deletion of ultraconserved elements yields viable mice. Volume 5 of Issue 9. PLoS biology 2007. PMID: 17803355


  157. Ahituv N, Kavaslar N, Schackwitz W, Ustaszewska A, Martin J, Hebert S, Doelle H, Ersoy B, Kryukov G, Schmidt S, Yosef N, Ruppin E, Sharan R, Vaisse C, Sunyaev S, Dent R, Cohen J, McPherson R, Pennacchio LA. Medical sequencing at the extremes of human body mass. Volume 80 of Issue 4. American journal of human genetics 2007. PMID: 17357083


  158. 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. Volume 444 of Issue 7118. Nature 2006. PMID: 17086198


  159. Bejerano G, Lowe CB, Ahituv N, King B, Siepel A, Salama SR, Rubin EM, Kent WJ, Haussler D. A distal enhancer and an ultraconserved exon are derived from a novel retroposon. Volume 441 of Issue 7089. Nature 2006. PMID: 16625209


  160. Ahituv N, Kavaslar N, Schackwitz W, Ustaszewska A, Collier JM, Hébert S, Doelle H, Dent R, Pennacchio LA, McPherson R. A PYY Q62P variant linked to human obesity. Volume 15 of Issue 3. Human molecular genetics 2005. PMID: 16368708


  161. Ahituv N, Prabhakar S, Poulin F, Rubin EM, Couronne O. Mapping cis-regulatory domains in the human genome using multi-species conservation of synteny. Volume 14 of Issue 20. Human molecular genetics 2005. PMID: 16155111


  162. Baroukh N, Ahituv N, Chang J, Shoukry M, Afzal V, Rubin EM, Pennacchio LA. Comparative genomic analysis reveals a distant liver enhancer upstream of the COUP-TFII gene. Volume 16 of Issue 2. Mammalian genome : official journal of the International Mammalian Genome Society 2005. PMID: 15859353


  163. Ahituv N, Rubin EM, Nobrega MA. Exploiting human--fish genome comparisons for deciphering gene regulation. Volume 13 Spec No 2. Human molecular genetics 2004. PMID: 15358733


  164. Ahituv N, Erven A, Fuchs H, Guy K, Ashery-Padan R, Williams T, de Angelis MH, Avraham KB, Steel KP. An ENU-induced mutation in AP-2alpha leads to middle ear and ocular defects in Doarad mice. Volume 15 of Issue 6. Mammalian genome : official journal of the International Mammalian Genome Society 2004. PMID: 15181535


  165. Nadav Ahituv, Orit Ben-David, Paolo Gasparini, Karen Avraham. Myosin VI. Genetic Hearing Loss 2003. PMID:


  166. Ahituv N, Avraham KB. Mouse models for human deafness: current tools for new fashions. Volume 8 of Issue 9. Trends in molecular medicine 2002. PMID: 12223317


  167. Melchionda S, Ahituv N, Bisceglia L, Sobe T, Glaser F, Rabionet R, Arbones ML, Notarangelo A, Di Iorio E, Carella M, Zelante L, Estivill X, Avraham KB, Gasparini P. MYO6, the human homologue of the gene responsible for deafness in Snell's waltzer mice, is mutated in autosomal dominant nonsyndromic hearing loss. American journal of human genetics 2001. PMID: 11468689


  168. Kiernan AE, Ahituv N, Fuchs H, Balling R, Avraham KB, Steel KP, Hrabé de Angelis M. The Notch ligand Jagged1 is required for inner ear sensory development. Proceedings of the National Academy of Sciences of the United States of America 2001. PMID: 11259677


  169. Ahituv N, Sobe T, Robertson NG, Morton CC, Taggart RT, Avraham KB. Genomic structure of the human unconventional myosin VI gene. Gene 2000. PMID: 11167014


  170. Ahituv N, Avraham KB. Auditory and vestibular mouse mutants: models for human deafness. Journal of basic and clinical physiology and pharmacology 2000. PMID: 11041382


  171. Vahava O, Morell R, Lynch ED, Weiss S, Kagan ME, Ahituv N, Morrow JE, Lee MK, Skvorak AB, Morton CC, Blumenfeld A, Frydman M, Friedman TB, King MC, Avraham KB. Mutation in transcription factor POU4F3 associated with inherited progressive hearing loss in humans. Science (New York, N.Y.) 1998. PMID: 9506947


  172. Ahituv N, Berman O. Devising a cooperation policy for emergency networks. The Journal of the Operational Research Society 1987. PMID: 10302092