Publications

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. Nat Genet. 2024 Jan 10. PMID: 38200130. PubMed

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. Nat Commun. 2024 Jan 9;15(1):12. PMCID: PMC10776631. PubMed Full text

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. Nat Commun. 2023 Dec 7;14(1):8111. PMCID: PMC10703881. PubMed

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. 2023 Nov 22:2023.11.19.567742. PMCID: PMC10690217. PubMed

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 Dec;624(7990):E1. PMCID: PMC10700127. PubMed

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. 2023 Sep 29:2023.09.27.559768. PMCID: PMC10557651. PubMed

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 3^rd COVID-19 vaccine and SARS-CoV-2 infection and implications for infant protection. iScience. 2023 Aug 29;26(10):107767. PMCID: PMC10507209. PubMed

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. 2023 Aug 14:2023. PMCID: PMC10461976. PubMed

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. 2023 Jun 7:2023. PMCID: PMC10274749. PubMed

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, 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. bioRxiv. 2023 Nov 22:2023. PMCID: PMC10245954. PubMed

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. Three-dimensional genome rewiring in loci with human accelerated regions. Science. 2023 Apr 28;380(6643). PMID: 37104607. PubMed

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 Genom Bioinform. 2023 Apr 24;5(2). PMCID: PMC10124967. PubMed

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. 2023 Mar 2:2023.03.02.530826. doi: 10.1101/2023.03.02.530826. Preprint. PMCID: PMC10120699. PubMed

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. Nat Commun. 2023 Apr 22;14(1):2333. PMCID: PMC10122648. PubMed

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. 2023 Apr 13:2023.04.12.536497. PMCID: PMC10120660. PubMed

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. 2023 Mar 29:2023.03.28.534564. PMCID: PMC10081280. PubMed

Chardon FM, McDiarmid TA, Page NF, Martin B, Domcke S, Regalado SG, Lalanne JÆ, Calderon D, Starita LM, Sanders SJ, Ahituv N, Shendure J. Multiplex, single-cell CRISPRa screening for cell type specific regulatory elements. bioRxiv. 2023 Mar 28:2023.03.28.534017. PMCID: PMC10081248. PubMed

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. 2023 Mar 7:2023.03.07.531534. PMCID: PMC10028908. PubMed

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. 2023 Mar 6:2023.03.05.531189. PMCID: PMC10028905. PubMed

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. 2023 Feb 16:2023.02.15.528663. PMCID: PMC9949039. PubMed

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. 2023 Feb 13:2023.02.12.528204. PMCID: PMC9949079. PubMed

Ilias Georgakopoulos-Soares, Ofer Yizhar Barnea, Ioannis Mouratidis, Candace S.Y. Chan, Rachael Bradley, Mayank Mahajan, Jasmine Sims, Dianne Laboy Cintron, Ryder Easterlin, Julia S. Kim, Emmalyn Chen, Geovanni Pineda, Guillermo E. Parada, John S. Witte, Christopher A. Maher, Felix Feng, Ioannis Vathiotis, Nikolaos Syrigos, Emmanouil Panagiotou, Andriani Charpidou, Konstantinos Syrigos, Jocelyn Chapman, Mark Kvale, Martin Hemberg, Nadav Ahituv. Leveraging sequences missing from the human genome to diagnose cancer, medRxiv, 2023.

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. Int J Mol Sci. 2023 Feb 9;24(4):3509. PMCID: PMC9959321. PubMed

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 Genom. 2022 Dec 7;3(1):100229. PMCID: PMC9903679. PubMed

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 Sci. 2023 Mar 1;316:121413. PMID: 36682524. PubMed

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. Nat Commun. 2023 Apr 22;14(1):2333. PMCID: PMC10122648. PubMed Full text

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 Mar 15;111(6):857-873.e8. PMCID: PMC10023452. PubMed

Serena Tamura, Andrew D. Nelson, Perry W.E. Spratt, Henry Kyoung, Xujia Zhou, Zizheng Li, Jingjing Zhao, Stephanie S. Holden, Atehsa Sahagun, Caroline M. Keeshen, Congyi Lu, Elizabeth C. Hamada, Roy Ben-Shalom, Jen Q. Pan, Jeanne T. Paz, Stephan J. Sanders, Navneet Matharu, Nadav Ahituv, Kevin J. Bender, CRISPR activation rescues abnormalities in SCN2A haploinsufficiency-associated autism spectrum disorder, bioRxiv, 2022

Hai P. Nguyen, Aki Ushiki, Rory Sheng, Cassidy Biellak, Kelly An, Hélène Choquet, Thomas J. Hoffman, Ryan S. Gray, Nadav Ahituv, ADGRG6 promotes adipogenesis and is involved in sex-specific fat distribution, bioRxiv, 2022.

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. 2022 Dec 14:2022.12.12.22283367. PMCID:PMC9774223. PubMed

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 Biol. 2022 Jul 27;23(1):164. PMCID:PMC9327390. PubMed

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. Cell Genom. 2022 Apr 13;2(4): Epub 2022. PMCID:PMC9105345. PubMed

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. Proc Natl Acad Sci U S A. 2022 Apr 12;119(15): Epub 2022. PMCID:PMC9169737. PubMed

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. Nat Commun. 2022 Mar 21;13(1):1504. PMID: 35315433. View in: PubMed Full Text

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. Hum Mol Genet. 2022 Jan 12. PMID: 35022708. View in: PubMed

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. Front Immunol. 2021 Nov 3;12:777103. PMCID: PMC8595828. View in: PubMed

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. Nature. 2021 Oct 13. Online ahead of print. PMID: 34646010. View in: PubMed

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. Nature. 2021 Oct;598(7879):205-213. PMID: 34616060. View in: PubMed

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. Genome Biol. 2021 Aug 25;22(1):245. PMCID: PMC8386077. View in: PubMed

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. medRxiv. 2021 Aug 3:2021.03.09.21253241. PMCID: PMC8351783. View in: PubMed

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. JAMA Pediatr. 2021 Jul 6:e211929. PMCID: PMC8261686. View in: PubMed

Weiss CV, Harshman L, Inoue F, Fraser HB, Petrov DA, Ahituv N, Gokhman D. The cis-regulatory effects of modern human-specific variants. Elife. 2021 Apr 22;10:e63713. PMID: 33885362. View in: PubMed

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. Nat Commun. 2021 Apr 16;12(1):2282. PMID: 33863876. View in: PubMed Full text

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. Nat Genet. 2021 Apr;53(4):587. PMID: 33762754. View in: PubMed

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 Res. 2020 Mar 9;8(1):13. PMID: 33686053. View in: PubMed

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. Nucleic Acids Res. 2021 Jan 11;49(1):e4. PMID: 33211865. View in: PubMed Abstract Full Text

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. Hum Mol Genet. 2020 Nov 12:ddaa242. PMID: 33179741. View in: PubMed Abstract Full Text

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. Nat Protoc. 2020 Oct 30. PMID: 33128032. View in: PubMed

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. Nat Methods. 2020 Oct 12. PMID: 33046894. View in: PubMed Full Text

Matharu N, Ahituv N. Modulating gene regulation to treat genetic disorders. Nat Rev Drug Discov. 2020 Oct 5. PMID: 33020616. View in: PubMed Full Text

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. Proc Natl Acad Sci U S A. Online ahead of print. PMID: 32690705. View in: PubMed

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. lentiMPRA and MPRAflow for high-throughput functional characterization of gene regulatory elements. Nat Protoc. 2020 Aug;15(8):2387-2412. PMID: 32641802. View in: PubMed Full Text

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 Jun;21(8):509-520. PMID: 32427048. View in: PubMed

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 Res. 2020 Mar 9;8:13. doi: 10.1038/s41413-020-0089-0. eCollection 2020. Review. PMCID: PMC7062733. View in: PubMed

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. Sci China Life Sci. 2020 Mar 6. doi: 10.1007/s11427-019-1574-x. [Epub ahead of print]. PMID: 32170627. View in: PubMed

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. doi: 10.1371/journal.pgen.1008096. [Epub ahead of print]. PMID: 31652254. View in: PubMed

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. pii: S1934-5909(19)30421-7. doi: 10.1016/j.stem.2019.09.010. [Epub ahead of print]. PMID: 31631012. View in: PubMed

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. doi: 10.1038/s42255-019-0051-x. Epub 2019 Apr 8. PMCID:PMC6750255. View in: PubMed

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. pii: msz188. doi: 10.1093/molbev/msz188. [Epub ahead of print]. PMID: 31424545. View in: PubMed Abstract Full Text

Ashuach T, Fischer DS, Kreimer A, Ahituv N, Theis FJ and Yosef N. MPRAnalyze: statistical framework for massively parallel reporter assays. Genome Biology. 2019 20;183. View in: Full Text

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 9. doi: 10.1038/s41436-019-0626-7. [Epub ahead of print]. PMID: 31395945. View in: PubMed

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 8;10(1):3583. doi: 10.1038/s41467-019-11526-w. PMID: 31395865. View in: PubMed Full Text

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 May 27. doi: 10.1002/humu.23820. [Epub ahead of print]. PMID: 31131957. View in: PubMed

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 May 20. doi: 10.1002/humu.23797. [Epub ahead of print]. PMID: 31106481. View in: PubMed

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 Jan 10;176(1-2):377-390.e19. doi: 10.1016/j.cell.2018.11.029. Epub 2019 Jan 3. PMID:30612741. View in: PubMed

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 MV, Willsey AJ, Talkowski ME, Davlin B, Roeder K, Sanders SJ. Genome-wide de novo risk score implicates promoter variation in autism spectrum disorder. Science. 2018 Dec 14;362(6420). pii: eaat6576. doi: 10.1126/science.aat6576. PMID:30545852. View in: PubMed

Matharu N, Rattanasopha S, Tamura S, Maliskova L, Wang Y, Bernard A, Hardin A, Eckalbar W, Vaisse C, Ahituv N. CRISPR-mediated activation of a promoter or enhancer rescues obesity caused by haploinsufficiency. Science. 2019 Jan 18;363(6424). pii: eaau0629. doi: 10.1126/science.aau0629. [Epub ahead of print]. PMID:30545847. View in: PubMed Abstract

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 Nov 15;27(22):3986-3998. doi: 10.1093/hmg/ddy306. PMID:30395268. View in: PubMed

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. doi: 10.1177/1753193418803521. Epub 2018 Oct 14. PMCID:PMC6297887. View in: PubMed

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 Oct 23;115(43):11018-11023. doi: 10.1073/pnas.1809872115. Epub 2018 Oct 8. PMCID:PMC6205494. View in: PubMed

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 May;28(5):766.3. doi: 10.1101/gr.237321.118. PMCID:PMC5932618. View in: PubMed

Potuijt JWP, Baas M, Sukenik-Halevy R, Douben H, Nguyen P, Venter DJ, Gallagjer 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 Mar 15. doi: 10.1038/gim.2018.18. PMID:29543231. View in: PubMed

Sukenik Halevy R, Chien HC, Heinz B, Bamshad MJ, Nickerson DA, University of Washington Center for Mendelian Genomics, Kircher M, Ahituv N. Mutations in the fourth β-propeller domain of LRP4 are associated with isolated syndactyly with fusion of the third and fourth fingers. Hum Mutat. 2018 Jun;39(6):811-815. PMCID:PMC5992059. View in: PubMed

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, Togerson DG, Kwok PY, Levin AM, Celedon 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, NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium. Whole-Genome Sequencing of Pharmacogenetic Drug Response in Racially Diverse Children with Asthma. Am J Respir Crit Care Med. 2018 Jun 15;197(12):1552-1564. PMCID:PMC6006403. View in: PubMed

Eclov RJ, Kim MJ, Smith R, Ahituv N, Kroetz DL. Rare Variants in the ABCG2 Promoter Modulate In Vivo Activity. Drug Metab Dispos. 2018 May;46(5):636-642. PMCID:PMC5896364. View in: PubMed

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. PMCID:PMC5737544. View in: PubMed

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. PMCID:PMC5678922. View in: PubMed

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 Aug 8;7(1):7533. doi: 10.1038/s41598-017-07757-w. PMCID:PMC5548911. View in: PubMed

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 30;12(11):e1006449. PMID: 27902686. View in: PubMed

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. 2016 Nov 17. [Epub ahead of print]. PMID: 27856528. View in: PubMed

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. 2016 Nov 9. [Epub ahead of print]. PMID: 27831498. View in: PubMed

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 [Epub ahead of print]. PMID: 27019111. View in: PubMed

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

Ahituv N. Exonic enhancers: proceed with caution in exome and genome sequencing studies. Genome Med. 2016; 8(1):14. PMID: 26856702. View in: PubMed

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; 6:10130. PMID: 26686553. View in: PubMed

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

Hesse RG, Kouklis GK, Ahituv N, Pomerantz JH. The human ARF tumor suppressor senses blastema activity and suppresses epimorphic tissue regeneration. Elife. 2015; 4. PMID: 26575287. View in: PubMed

Luizon MR, Ahituv N. Uncovering drug-responsive regulatory elements. Pharmacogenomics. 2015 Nov; 16(16):1829-41. PMID: 26555224. View in: PubMed

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; 16(1):882. PMID: 26519295. View in: PubMed

Tapaltsyan V, Charles C, Hu J, Mindell D, Ahituv N, Wilson GM, Black BL, Viriot L, Klein OD, et al. Identification of novel Fgf enhancers and their role in dental evolution. Evol Dev. 2015 Jun 18. PMID: 26086993. View in: PubMed

Inoue F, Ahituv N. Decoding enhancers using massively parallel reporter assays. Genomics. 2015 Sep; 106(3):159-64. PMID: 26072433. View in: PubMed

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; 6:6452. PMID: 25784220. View in: PubMed

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. View in: PubMed

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. View in: PubMed

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. View in: PubMed

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. View in: PubMed

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. View in: PubMed

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. View in: PubMed

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. View in: PubMed

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. View in: PubMed

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):306-10. View in: PubMed

Kim MJ, Oksenberg N, Hoffmann TJ, Vaisse C, Ahituv N. Functional characterization of SIM1-associated enhancers. Hum Mol Genet. 2014 Apr 1; 23(7):1700-8. View in: PubMed

Booker BM, Murphy KK, Ahituv N. Functional analysis of limb enhancers in the developing fin. Dev Genes Evol. 2013 Nov; 223(6):395-9. View in: PubMed

Zhao J, Shi H, Ahituv N. Classification of topological domains based on gene expression and regulation. Genome. 2013 Jul; 56(7):415-23. View in: PubMed

Oksenberg N, Ahituv N. The role of AUTS2 in neurodevelopment and human evolution. Trends Genet. 2013 Oct; 29(10):600-8. View in: PubMed

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):1021-8. View in: PubMed

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; 14(7):R72. View in: PubMed

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. View in: PubMed

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. View in: PubMed

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. View in: PubMed

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. View in: PubMed

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. View in: PubMed

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. View in: PubMed

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. View in: PubMed

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. View in: PubMed

Smith RP, Lam ET, Markova S, Yee SW, Ahituv N. Pharmacogene regulatory elements: from discovery to applications. Genome Med. 2012; 4(5):45. View in: PubMed

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. View in: PubMed

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. View in: PubMed

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 Mar; 30(3):265-70. View in: PubMed

Ahituv N. Location, location, cis-mutation. Hum Mutat. 2011 Dec; 32(12):iv. View in: PubMed

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. Clin Pharmacol Ther. 2011 Apr; 89(4):571-8. View in: PubMed

VanderMeer JE, Ahituv N. cis-regulatory mutations are a genetic cause of human limb malformations. Dev Dyn. 2011 May; 240(5):920-30. View in: PubMed

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. Pharmacogenomics. 2009 Oct; 10(10):1569-76. View in: PubMed

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. Pharmacogenet Genomics. 2009 Oct; 19(10):770-80. View in: PubMed

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). J Pharmacol Exp Ther. 2009 Mar; 328(3):699-707. View in: PubMed

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. Hum Mol Genet. 2009 Mar 15; 18(6):1140-7. View in: PubMed

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. J Lipid Res. 2008 Nov; 49(11):2452-62. View in: PubMed

Goren A, Kim E, Amit M, Bochner R, Lev-Maor G, Ahituv N, Ast G. Alternative approach to a heavy weight problem. Genome Res. 2008 Feb; 18(2):214-20. View in: PubMed

Ahituv N, Akiyama J, Chapman-Helleboid A, Fruchart J, Pennacchio LA. In vivo characterization of human APOA5 haplotypes. Genomics. 2007 Dec; 90(6):674-9. View in: PubMed

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. PLoS One. 2007; 2(9):e903. View in: PubMed

Ahituv N, Zhu Y, Visel A, Holt A, Afzal V, Pennacchio LA, Rubin EM. Deletion of ultraconserved elements yields viable mice. PLoS Biol. 2007 Sep; 5(9):e234. View in: PubMed

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. Am J Hum Genet. 2007 Apr; 80(4):779-91. View in: PubMed

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. View in: PubMed

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. Nature. 2006 May 4; 441(7089):87-90. View in: PubMed

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. Hum Mol Genet. 2006 Feb 1; 15(3):387-91. View in: PubMed

Ahituv N, Prabhakar S, Poulin F, Rubin EM, Couronne O. Mapping cis-regulatory domains in the human genome using multi-species conservation of synteny. Hum Mol Genet. 2005 Oct 15; 14(20):3057-63. View in: PubMed

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. Mamm Genome. 2005 Feb; 16(2):91-5. View in: PubMed

Ahituv N, Rubin EM, Nobrega MA. Exploiting human--fish genome comparisons for deciphering gene regulation. Hum Mol Genet. 2004 Oct 1; 13 Spec No 2:R261-6. View in: PubMed

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. Mamm Genome. 2004 Jun; 15(6):424-32. View in: PubMed

Ahituv N, Avraham KB. Mouse models for human deafness: current tools for new fashions. Trends Mol Med. 2002 Sep; 8(9):447-51. View in: PubMed

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. Am J Hum Genet. 2001 Sep; 69(3):635-40. View in: PubMed

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. Proc Natl Acad Sci U S A. 2001 Mar 27; 98(7):3873-8. View in: PubMed

Ahituv N, Sobe T, Robertson NG, Morton CC, Taggart RT, Avraham KB. Genomic structure of the human unconventional myosin VI gene. Gene. 2000 Dec 31; 261(2):269-75. View in: PubMed

Ahituv N, Avraham KB. Auditory and vestibular mouse mutants: models for human deafness. J Basic Clin Physiol Pharmacol. 2000; 11(3):181-91. View in: PubMed

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. 1998 Mar 20; 279(5358):1950-4. View in: PubMed

Ahituv N, Berman O. Devising a cooperation policy for emergency networks. J Oper Res Soc. 1987 Nov; 38(11):1015-29. View in: PubMed