Nadav Ahituv, Ph.D. - Publications

Bioengineering and Therapeutic Sciences University of California, San Francisco, San Francisco, CA 
Gene regulatory elements and their relationship to human diversity and disease

76 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any inaccuracies, please sign in and mark papers as correct or incorrect matches. If you identify any major omissions or other inaccuracies in the publication list, please let us know.

Year Citation  Score
2020 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, ... ... Ahituv N, et al. Author Correction: lentiMPRA and MPRAflow for high-throughput functional characterization of gene regulatory elements. Nature Protocols. PMID 33128032 DOI: 10.1038/s41596-020-00422-z  0.32
2020 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, ... ... Ahituv N, et al. lentiMPRA and MPRAflow for high-throughput functional characterization of gene regulatory elements. Nature Protocols. PMID 32641802 DOI: 10.1038/s41596-020-0333-5  0.32
2019 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. 1: 475-484. PMID 31535083 DOI: 10.1038/s42255-019-0051-x  0.4
2019 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, ... ... Ahituv N, et al. 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. PMID 31395945 DOI: 10.1038/s41436-019-0626-7  0.32
2019 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 gene expression and erectile dysfunction. Proceedings of the National Academy of Sciences of the United States of America. PMID 30755537 DOI: 10.1073/pnas.1900162116  0.4
2018 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.). PMID 30545847 DOI: 10.1126/science.aau0629  0.4
2018 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 locus is associated with erectile dysfunction. Proceedings of the National Academy of Sciences of the United States of America. PMID 30297428 DOI: 10.1073/pnas.1809872115  0.4
2018 Eclov RJ, Kim MJ, Smith RP, Ahituv N, Kroetz DL. Rare Variants in the ABCG2 Promoter Modulate In Vivo Activity. Drug Metabolism and Disposition: the Biological Fate of Chemicals. PMID 29467213 DOI: 10.1124/dmd.117.079541  0.4
2017 Eclov RJ, Kim MJ, Chhibber A, Smith RP, Ahituv N, Kroetz DL. ABCG2 regulatory single-nucleotide polymorphisms alter in-vivo enhancer activity and expression. Pharmacogenetics and Genomics. PMID 28930109 DOI: 10.1097/FPC.0000000000000312  0.4
2016 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, et al. Genomic Characterization of Metformin Hepatic Response. Plos Genetics. 12: e1006449. PMID 27902686 DOI: 10.1371/journal.pgen.1006449  0.32
2016 Eclov RJ, Kim MJ, Smith RP, Liang X, Ahituv N, Kroetz DL. In Vivo Hepatic Enhancer Elements in the Human ABCG2 Locus. Drug Metabolism and Disposition: the Biological Fate of Chemicals. PMID 27856528 DOI: 10.1124/dmd.116.072033  0.4
2016 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, ... ... Ahituv N, et al. Transcriptomic and epigenomic characterization of the developing bat wing. Nature Genetics. PMID 27019111 DOI: 10.1038/ng.3537  0.84
2016 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 Genetics. 12: e1005738. PMID 27019019 DOI: 10.1371/journal.pgen.1005738  0.84
2016 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 β-catenin/Brn2/Tbr2 transcriptional cascade regulates adult social and stereotypic behaviors. Molecular Psychiatry. PMID 26830142 DOI: 10.1038/mp.2015.207  1
2015 Matharu N, Ahituv N. Minor Loops in Major Folds: Enhancer-Promoter Looping, Chromatin Restructuring, and Their Association with Transcriptional Regulation and Disease. Plos Genetics. 11: e1005640. PMID 26632825 DOI: 10.1371/journal.pgen.1005640  1
2015 Luizon MR, Ahituv N. Uncovering drug-responsive regulatory elements. Pharmacogenomics. PMID 26555224 DOI: 10.2217/pgs.15.121  1
2015 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. 16: 882. PMID 26519295 DOI: 10.1186/s12864-015-2070-7  1
2015 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. Evolution & Development. PMID 26086993 DOI: 10.1111/ede.12132  1
2015 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, ... ... Ahituv N, et al. A PAX1 enhancer locus is associated with susceptibility to idiopathic scoliosis in females. Nature Communications. 6: 6452. PMID 25784220 DOI: 10.1038/ncomms7452  1
2015 Inoue F, Ahituv N. Decoding enhancers using massively parallel reporter assays Genomics. 106: 159-164. DOI: 10.1016/j.ygeno.2015.06.005  1
2014 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. 159: 543-57. PMID 25417106 DOI: 10.1016/j.cell.2014.09.033  1
2014 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 Genetics. 10: e1004592. PMID 25340400 DOI: 10.1371/journal.pgen.1004592  1
2014 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 Genetics. 10: e1004648. PMID 25275310 DOI: 10.1371/journal.pgen.1004648  1
2014 VanderMeer JE, Smith RP, Jones SL, Ahituv N. Genome-wide identification of signaling center enhancers in the developing limb. Development (Cambridge, England). 141: 4194-8. PMID 25273087 DOI: 10.1242/dev.110965  1
2014 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. 4: e431. PMID 25180570 DOI: 10.1038/tp.2014.78  1
2014 Erwin GD, Oksenberg N, Truty RM, Kostka D, Murphy KK, Ahituv N, Pollard KS, Capra JA. Integrating diverse datasets improves developmental enhancer prediction. Plos Computational Biology. 10: e1003677. PMID 24967590 DOI: 10.1371/journal.pcbi.1003677  1
2014 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. 9: e96805. PMID 24820477 DOI: 10.1371/journal.pone.0096805  1
2014 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. Human Mutation. 35: 945-8. PMID 24777739 DOI: 10.1002/humu.22581  0.84
2014 Kim MJ, Oksenberg N, Hoffmann TJ, Vaisse C, Ahituv N. Functional characterization of SIM1-associated enhancers. Human Molecular Genetics. 23: 1700-8. PMID 24203700 DOI: 10.1093/hmg/ddt559  1
2014 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 Human Mutation. 35: 945-948. DOI: 10.1002/humu.22581  1
2013 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, et al. Chromatin connectivity maps reveal dynamic promoter-enhancer long-range associations. Nature. 504: 306-10. PMID 24213634 DOI: 10.1038/nature12716  1
2013 Taher L, Smith RP, Kim MJ, Ahituv N, Ovcharenko I. Sequence signatures extracted from proximal promoters can be used to predict distal enhancers. Genome Biology. 14: R117. PMID 24156763 DOI: 10.1186/gb-2013-14-10-r117  1
2013 Zhao J, Shi H, Ahituv N. Classification of topological domains based on gene expression and regulation Genome. 56: 415-423. PMID 24099394 DOI: 10.1139/gen-2013-0111  1
2013 Booker BM, Murphy KK, Ahituv N. Functional analysis of limb enhancers in the developing fin. Development Genes and Evolution. 223: 395-9. PMID 24068387 DOI: 10.1007/s00427-013-0453-9  1
2013 Oksenberg N, Ahituv N. The role of AUTS2 in neurodevelopment and human evolution Trends in Genetics. 29: 600-608. PMID 24008202 DOI: 10.1016/j.tig.2013.08.001  1
2013 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. Nature Genetics. 45: 1021-8. PMID 23892608 DOI: 10.1038/ng.2713  1
2013 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 Biology. 14: R72. PMID 23867016 DOI: 10.1186/gb-2013-14-7-r72  1
2013 Kim MJ, Ahituv N. The hydrodynamic tail vein assay as a tool for the study of liver promoters and enhancers Methods in Molecular Biology. 1015: 279-289. PMID 23824863 DOI: 10.1007/978-1-62703-435-7_18  1
2013 Oksenberg N, Stevison L, Wall JD, Ahituv N. Function and Regulation of AUTS2, a Gene Implicated in Autism and Human Evolution Plos Genetics. 9. PMID 23349641 DOI: 10.1371/journal.pgen.1003221  1
2012 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, et al. Mutations in DMRT3 affect locomotion in horses and spinal circuit function in mice. Nature. 488: 642-6. PMID 22932389 DOI: 10.1038/nature11399  1
2012 Birnbaum RY, Everman DB, Murphy KK, Gurrieri F, Schwartz CE, Ahituv N. Functional characterization of tissue-specific enhancers in the DLX5/6 locus. Human Molecular Genetics. 21: 4930-8. PMID 22914741 DOI: 10.1093/hmg/dds336  1
2012 Clarke SL, VanderMeer JE, Wenger AM, Schaar BT, Ahituv N, Bejerano G. Human developmental enhancers conserved between deuterostomes and protostomes. Plos Genetics. 8: e1002852. PMID 22876195 DOI: 10.1371/journal.pgen.1002852  1
2012 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 American Journal of Medical Genetics, Part A. 158: 2031-2035. PMID 22786669 DOI: 10.1002/ajmg.a.35473  1
2012 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. 158: 1620-7. PMID 22678995 DOI: 10.1002/ajmg.a.35418  1
2012 Smith RP, Lam ET, Markova S, Yee SW, Ahituv N. Pharmacogene regulatory elements: from discovery to applications. Genome Medicine. 4: 45. PMID 22630332 DOI: 10.1186/gm344  1
2012 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. Human Mutation. 33: 1063-6. PMID 22495965 DOI: 10.1002/humu.22097  1
2012 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, ... ... Ahituv N, et al. Coding exons function as tissue-specific enhancers of nearby genes. Genome Research. 22: 1059-68. PMID 22442009 DOI: 10.1101/gr.133546.111  1
2012 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. Nature Biotechnology. 30: 265-70. PMID 22371081 DOI: 10.1038/nbt.2136  1
2011 Ahituv N. Location, Location, Cis-mutation Human Mutation. 32: iv. PMID 22083934 DOI: 10.1002/humu.21638  1
2011 Vandermeer JE, Ahituv N. cis-regulatory mutations are a genetic cause of human limb malformations Developmental Dynamics. 240: 920-930. PMID 21509892 DOI: 10.1002/dvdy.22535  1
2011 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, ... ... Ahituv N, et al. Functional characterization of liver enhancers that regulate drug-associated transporters. Clinical Pharmacology and Therapeutics. 89: 571-8. PMID 21368754 DOI: 10.1038/clpt.2010.353  1
2011 Vandermeer JE, Ahituv N. Cis-regulatory enhancer mutations are a cause of human limb malformations Gene Regulatory Sequences and Human Disease. 73-93. DOI: 10.1007/978-1-4614-1683-8_5  0.72
2011 Ahituv N. Gene regulatory elements Gene Regulatory Sequences and Human Disease. 1-17. DOI: 10.1007/978-1-4614-1683-8_1  0.72
2009 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. 10: 1569-76. PMID 19842929 DOI: 10.2217/pgs.09.119  1
2009 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, et al. Identification and characterization of novel polymorphisms in the basal promoter of the human transporter, MATE1 Pharmacogenetics and Genomics. 19: 770-780. PMID 19745787 DOI: 10.1097/FPC.0b013e328330eeca  1
2009 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). The Journal of Pharmacology and Experimental Therapeutics. 328: 699-707. PMID 19098160 DOI: 10.1124/jpet.108.147207  1
2009 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. Human Molecular Genetics. 18: 1140-7. PMID 19091795 DOI: 10.1093/hmg/ddn431  1
2008 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 Journal of Lipid Research. 49: 2452-2462. PMID 18632552 DOI: 10.1194/jlr.M800303-JLR200  1
2008 Goren A, Kim E, Amit M, Bochner R, Lev-Maor G, Ahituv N, Ast G. Alternative approach to a heavy weight problem. Genome Research. 18: 214-20. PMID 18096750 DOI: 10.1101/gr.6661308  1
2007 Ahituv N, Akiyama J, Chapman-Helleboid A, Fruchart J, Pennacchio LA. In vivo characterization of human APOA5 haplotypes Genomics. 90: 674-679. PMID 17936576 DOI: 10.1016/j.ygeno.2007.08.003  1
2007 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 AMPKγ3 causing increased glycogen and decreased triglyceride in skeletal muscle Plos One. 2. PMID 17878938 DOI: 10.1371/journal.pone.0000903  1
2007 Ahituv N, Zhu Y, Visel A, Holt A, Afzal V, Pennacchio LA, Rubin EM. Deletion of ultraconserved elements yields viable mice. Plos Biology. 5: e234. PMID 17803355 DOI: 10.1371/journal.pbio.0050234  1
2007 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, et al. Medical sequencing at the extremes of human body mass. American Journal of Human Genetics. 80: 779-91. PMID 17357083 DOI: 10.1086/513471  1
2006 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, et al. In vivo enhancer analysis of human conserved non-coding sequences. Nature. 444: 499-502. PMID 17086198 DOI: 10.1038/nature05295  1
2006 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. 441: 87-90. PMID 16625209 DOI: 10.1038/nature04696  1
2006 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 Human Molecular Genetics. 15: 387-391. PMID 16368708 DOI: 10.1093/hmg/ddi455  1
2005 Ahituv N, Prabhakar S, Poulin F, Rubin EM, Couronne O. Mapping cis-regulatory domains in the human genome using multi-species conservation of synteny. Human Molecular Genetics. 14: 3057-63. PMID 16155111 DOI: 10.1093/hmg/ddi338  1
2005 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 Mammalian Genome. 16: 91-95. PMID 15859353 DOI: 10.1007/s00335-004-2442-9  1
2004 Ahituv N, Rubin EM, Nobrega MA. Exploiting human - Fish genome comparisons for deciphering gene regulation Human Molecular Genetics. 13: R261-R266. PMID 15358733 DOI: 10.1093/hmg/ddh229  1
2004 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. Mammalian Genome : Official Journal of the International Mammalian Genome Society. 15: 424-32. PMID 15181535 DOI: 10.1007/s00335-004-2334-z  1
2002 Ahituv N, Avraham KB. Mouse models for human deafness: current tools for new fashions. Trends in Molecular Medicine. 8: 447-51. PMID 12223317 DOI: 10.1016/S1471-4914(02)02388-2  1
2001 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. 69: 635-40. PMID 11468689 DOI: 10.1086/323156  1
2001 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. 98: 3873-8. PMID 11259677 DOI: 10.1073/pnas.071496998  1
2000 Ahituv N, Sobe T, Robertson NG, Morton CC, Taggart RT, Avraham KB. Genomic structure of the human unconventional myosin VI gene. Gene. 261: 269-75. PMID 11167014 DOI: 10.1016/S0378-1119(00)00535-7  1
2000 Ahituv N, Avraham KB. Auditory and vestibular mouse mutants: models for human deafness. Journal of Basic and Clinical Physiology and Pharmacology. 11: 181-91. PMID 11041382  1
1998 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.). 279: 1950-4. PMID 9506947 DOI: 10.1126/science.279.5358.1950  1
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