Matulevicius A, Bernardinelli E, Brownstein Z, Roesch S, Avraham KB, Dossena S (2022) Molecular features of SLC26A4 common variant p.L117F. J Clin Med. 11:5449.
Taiber S, Gozlan O, Cohen R, Andrade LR, Gregory EF, Starr DA, Moran Y, Hipp R, Kelley MW, Manor U, Sprinzak D, Avraham KB (2022) A nesprin-4/kinesin-1 cargo model for nuclear positioning in cochlear outer hair cells. Front Cell Dev Biol. 10:974168. PMID: 36211453
Pater JA, Penney C, O'Rielly DD, Griffin A, Kamal L, Brownstein Z, Vona B, Vinkler C, Shohat M, Barel O, French CR, Singh S, Werdyani S, Burt T, Abdelfatah N, Houston J, Doucette LP, Squires J, Glaser F, Roslin NM, Vincent D, Marquis P, Woodland G, Benoukraf T, Hawkey-Noble A, Avraham KB, Stanton SG, Young TL. (2022) Autosomal dominant non-syndromic hearing loss maps to DFNA33 (13q34) and co-segregates with splice and frameshift variants in ATP11A, a phospholipid flippase gene. Hum Genet. 141:431-444. PMID: 35278131.
Vanniya PS, Chandru J, Jeffrey JM, Rabinowitz T, Brownstein Z, Krishnamoorthy M, Avraham KB, Le Cheng L, Shomron N, Srikumari Srisailapathy CR. PNPT1, MYO15A, PTPRQ, and SLC12A2-associated genetic and phenotypic heterogeneity among hearing impaired assortative mating families in Southern India. Ann Hum Genet, 86:1-13.
Patel MJ, DiStefano MT, Oza AM, Hughes MY, Wilcox EH, Hemphill SE, Cushman BJ, Grant AR, Siegert RK, Shen J, Chapin A, Boczek NJ, Schimmenti LA, Nara K, Kenna M, Azaiez H, Booth KT, Avraham KB, Kremer H, Griffith AJ, Rehm HL, Amr SS, Abou Tayoun AN, ClinGen Hearing Loss Clinical Domain Working Group. Disease-specific ACMG/AMP guidelines improve sequence variant interpretation for hearing loss. Genet Med, July 6. doi: 10.1038/s41436-021-01254-2. Online ahead of print.
Carlson RJ, Quesnel A, Wells D, Brownstein Z, Gilony D, Gulsuner S, Leppig K, Avraham KB, King M-C, Walsh T, Rubinstein J. (2021) Genetic heterogeneity and core clinical features of NOG-related symphalangism spectrum disorder. Otol Neurotol. 42:e1143-e1151. PMID: 34049328
Dror AA, Layous E, Mizrachi M, Daoud A, Eisenbach N, Morozov NG, Srouji S, Avraham KB*, Sela E*. (2021) United by hope, divided by access: Country mapping of COVID-19 information accessibility and its consequences on pandemic eradication. Frontiers in Medicine. 7:618337.
Rabinski T, Sagiv S, Hausman-Kedem, Fattal-Valevski, Rubinstein M, Avraham, KB, Vatine GD (2021) Reprogramming of two induced pluripotent stem cell lines from a heterozygous GRIN2D developmental and epileptic encephalopathy (DEE) patient (BGUi011-A) and from a healthy family relative (BGUi012-A). Stem Cell Res. 51:102178.
Taiber S, Cohen R, Yizhar-Barnea O, Sprinzak D, Holt JR, Avraham KB. (2021) AAV gene therapy rescues hearing in a mouse model of SYNE4 deafness. EMBO Mol Med, 13:e13259. Featured on cover of journal. PMID: 33350593
Hirsch Y, BS*, Tangshewinsirikul C*, Booth KT*, Azaiez H, Yefet D, Quint A, Weiden T, Brownstein Z, Macarov M, Davidov B, Pappas J, Rabin R, Kenna MA, Oza AM, Lafferty K, Amr SS, Rehm HL, Kolbe DL, Frees K, Nishimura C, Luo M, Farra C, Morton CC, Scher SY, Ekstein J, Avraham KB*, Smith RJH*, Shen J*. (2021) A synonymous variant in MYO15A enriched in the Ashkenazi Jewish population causes autosomal recessive hearing loss due to abnormal splicing. Eur J Hum Genet, 29:988-997. PMID: 33398081
Koffler-Brill T, Taiber S, Anaya A, Bordeynik-Cohen M, Rosen E, Kolla L, Messika-Gold N, Elkon R, Kelley MW, Ulitsky I, Avraham KB. (2021) Identification and characterization of key long non-coding RNAs in the mouse cochlea. RNA Biol, 18:1160-11691-10. PMID: 33131415.
Dror AA, Kassis- Karayanni N, Oved A, Daoud A, Eisenbach N, Gutkovich YE, Taiber S, Srouji S, Chordekar S, Goldstein S, Ronen O, Gruber M, Avraham KB*, Sela E*. (2020) Auditory performance in recovered SARS-COV-2 patients. Otol Neurotol, 42:666-670.
Danial-Farran N, Chervinsky E, Nadar Ponniah PT, Cohen Barak E, Taiber S, Khayat M, Avraham KB, Shalev SA. (2020) Homozygote loss-of-function variants in the human COCH gene underlie hearing loss. Eur J Hum Genet, 26:1840-1847. PMID: 32939038
Krohs C, Bordeynik-Cohen M, Messika-Gold N, Elkon R, Avraham KB, Nothwang HG. (2020) Expression pattern of cochlear microRNAs in the mammalian auditory hindbrain. Cell Tissue Res, online ahead of print. PMID: 33156384.
Cohen R, Amir-Zilberstein L, Hersch M, Woland S, Taiber S, Matsuzaki F, Bergmann S, Avraham KB, Sprinzak D. (2020) Shear forces drive precise patterning of hair cells in the mammalian inner ear. Nat Comm, 11:5137. PMID: 33046691.
Brownstein Z, Gulsuner S, Walsh T, Arrojo Martins FT, Taiber S, Isakov O, Lee MK, Bordeynik-Cohen M, Birkan M, Chang W, Casadei S, Danial-Farran N, Abu-Rayyan A, Carlson R, Kamal L, Örn Arnþórsson AO, Sokolov M, Gilony D, Lipschitz N, Frydman M, Davidov B, Macarov M, Sagi M, Vinkler C, Poran H, Sharony R, Samara N, Zvi N, Baris-Feldman H, Singer A, Handzel O, Hertzano R, Ali-Naffaa D, Ruhrman-Shahar N, Madgar O, Sofrin E, Peleg A, Khayat M, Shohat M, Basel-Salmon L, Pras E, Lev D, Wolf M, Steingrimsson E, Shomron N, Kelley MW, Kanaan M, Allon-Shalev S, King M-C, Avraham KB. (2020) Spectrum of genes for inherited hearing loss in the Israeli Jewish population, including the novel human deafness gene ATOH1. Clin Genet, 98:353–364.
Abu Rayyan A, Kamal L, Casadei S, Brownstein Z, Canavati C, Dweik D, Jaraysa T, Rabie G, Shahin H, Zahdeh F, Carlson R, Gulsuner S, Lee MK, Avraham KB, Walsh T, King M-C, Kanaan MN. (2020) Genomic analysis of inherited hearing loss in the Palestinian population. Proc Natl Acad Sci USA, 3:202009628.
Nadar-Ponniah PT, Taiber S, Caspi M, Koffler-Brill T, Dror A.A., Siman-Tov R, Rubinstein M, Padmanabhan K, Luxenburg C, Lang RA, Avraham KB*, Rosin-Arbesfeld R*. (2020) Striatin is required for hearing and affects inner hair cells and ribbon synapses. Front Cell Dev Biol. 8:615. PMID: 32766247 (*shared senior authorship)
Dror AA, Taiber S, Sela E, Handzel O, Avraham KB. (2020) A mouse model for benign paroxysmal positional vertigo (BPPV) with genetic predisposition for displaced otoconia. Genes Brain Behav. 2:e12635. PMID: 31898392
Shen J, Oza AM, Del Castillo I, Duzkale H, Matsunaga T, Pandya A, Kang HP, Mar-Heyming R, Guha S, Moyer K, Lo C, Kenna M, Alexander JJ, Zhang Y, Hirsch Y, Luo M, Cao Y, Wai Choy K, Cheng YF, Avraham KB, Hu X, Garrido G, Moreno-Pelayo MA, Greinwald J, Zhang K, Zeng Y, Brownstein Z, Basel-Salmon L, Davidov B, Frydman M, Weiden T, Nagan N, Willis A, Hemphill SE, Grant AR, Siegert RK, DiStefano MT, Amr SS, Rehm HL, Abou Tayoun AN; ClinGen Hearing Loss Working Group. (2019) Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel. Genet. Med. 21:2442-2452. PMID: 31160754
Hacohen-Kleiman, G., Yizhar-Barnea, O., Touloumi, O., Lagoudaki, R., Avraham, K.B., Grigoriadis, N., Gozes, I. (2019) Atypical auditory brainstem response and protein expression aberrations related to ASD and hearing loss in the Adnp haploinsufficient mouse brain. Neurochem Res. 44:1494-1507. PMID: 30659505
Lahav-Ariel, L., Caspi, M., Thangaraj P., Hofmann, I., Hanson, K.K., Sklan, E.H., Werner Franke, W., Avraham, K.B., Rosin-Arbesfeld, R. (2019) Striatin is a novel modulator of cell adhesion. FASEB J. 33:4729-4740. PMID: 30592649
Yizhar-Barnea, O., Valensisi, C., Doni-Jayavelu, N., Kishore, K., Andrus, C., Koffler-Brill, T., Ushakov, K., Perl, K., Noy, Y., Bhonker, Y., Pelizzola, M., Hawkins, R.D., Avraham, K.B. (2018) DNA methylation dynamics during embryonic development and postnatal maturation of the mouse auditory sensory epithelium. Sci. Rep. 8:17348.
Oza, A.M., DiStefano, M.T., Hemphill, S.E., Cushman, B.J., Grant, AR, Siegert, R.K., Shen, J., Chapin, A., Boczek, N.J., Schimmenti, L.A., Murry, J.B., Hasadsri, L., Nara, K., Kenna, M., Booth, K.T., Azaiez, H., Griffith, A., Avraham, K.B., Kremer, H., Rehm, H.L., Amr, S.S., Abou Tayoun, A.N., on behalf of the ClinGen Hearing Loss Clinical Domain Working Group. (2018) Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss. Hum Mutat. 39:1593-1613.
Danial-Farran, N., Brownstein, Z., Gulsuner, S., Tammer, L., Khayat, M., Aleme, O., Chervinsky, E., Aboleile Zoubi, O., Walsh, T., Ast, G., King, M.-C., Avraham, K.B.,* Shalev, S.A.* (2018) Genetics of hearing loss in the Arab population of northern Israel. Eur J Hum Genet. 26:1840-1847. (*shared senior authorship)
Perl, K., Shamir, R., Avraham, K.B. (2018) Computational analysis of mRNA expression profiling in the inner ear reveals candidate transcription factors associated with proliferation, differentiation, and deafness. Hum. Genomics. 12:30.
Schlüter, T., Berger, C., Rosengauer, E., Fieth, P., Krohs, C., Ushakov, K., Steel, K.P., Avraham, K.B., Hartmann, A., Felmy, F., Nothwang, H.G. (2018) miR-96 is required for normal development of the auditory hindbrain. Hum. Molec. Genet. 27:860-874.
Ushakov, K., Koffler-Brill, T., Rom, A., Perl, K., Ulitsky, I., Avraham, K.B. (2017) Genome-wide identification and expression profiling of long non-coding RNAs in auditory and vestibular systems. Sci. Rep., 7:8637.
Perl, K., Ushakov, K., Pozniak, Y., Yizhar-Barnea, O., Bhonker, Y., Shivatzki, S., Geiger, T., Avraham, K.B.*, Shamir, R.* (2017) Reduced changes in protein compared to mRNA levels across non-proliferating tissues. BMC Genomics, 18:305. *shared senior authorship.
Marcotti, W., Corns, L.F., Goodyear, R.J., Rzadzinska, A.K., Avraham, K.B., Steel, K.P., Richardson, G. and Kros, C.J. (2016) The acquisition of mechano-electrical transducer current adaptation in auditory hair cells requires myosin VI. J. Physiol. 594:3667-3681. PMID: 27111754
Attias, J., Hod, R., Raveh, E., Mizrachi, A., Avraham, K.B., Lenz, D.R. and Nageris, B.I. (2016) Hearing loss patterns after cochlear implantation via the round window in an animal model. Am. J. Otolaryngol. 37:162-168. PMID: 26954875
Bhonker, Y, Abu-Rayyan, A, Ushakov, U, Amir-Zilberstein, A, Shivatzki, S, Yizhar-Barnea, O, Elkan-Miller, T, Tayeb-Fligelman, E, Kim, S.M., Landau, M., Kanaan, M., Chen, P., Matsuzaki, F., Sprinzak, D. and Avraham, K.B. (2015) The GPSM2/LGN GoLoco motifs are essential for hearing. Mamm. Genome, 27:29-46. PMID: 26662512.
Shefer, S., Gordon, C., Avraham, K.B. and Mintz, M. (2015) Balance deficit enhances anxiety and balance training decreases anxiety in vestibular mutant mice. Behav. Brain Res., 276:76-83. PMID: 24983660
Jones, C., Qian, D., Kim, S.M., Li, S., Ren, D., Knapp, L., Sprinzak, D., Avraham, K.B., Matsuzaki, F., Chi, F. and Chen, P. (2014) Ankrd6 is a mammalian functional homolog of Drosophila planar cell polarity gene diego and regulates coordinated cellular orientation in the mouse inner ear. Dev. Biol. 395:62-72. PMID: 25218921
Sokolov, M., Brownstein, Z., Frydman, M. and Avraham, K.B. (2014) Apparent phenotypic anticipation in autosomal dominant connexin 26 deafness. J. Basic Clin. Physiol. Pharmacol. 25:289-292. PMID: 25153233
Rudnicki, A.*, Isakov, O.*, Ushakov, K., Shivatzki, S., Weiss, I., Friedman, L.M., Shomron, N. and Avraham, K.B. (2014) Next-generation sequencing of small RNAs from inner ear sensory epithelium identifies microRNAs and defines regulatory pathways. BMC Genomics. 15:484. PMCID: PMC4073505
Dror A.A., Lenz, D.R., Shivatzki, S., Cohen, K., Ashur-Fabian, O. and Avraham, K.B. (2014) Atrophic thyroid follicles and inner ear defects reminiscent of cochlear hypothyroidism in Slc26a4-related deafness. Mamm. Genome. 25:304-316. PMID: 24760582
Rudnicki, A., Shivatzki, S., Beyer, L.A., Takada, Y., Raphael, Y. and Avraham, K.B. (2014) microRNA-224 regulates Pentraxin 3, a component of the humoral arm of innate immunity, in inner ear inflammation. Hum. Molec. Genet. 23:3138-46. PMID: 24470395
Behar, D.M., Davidov, B., Brownstein, Z., Ben-Yosef, T., Avraham, K.B., and Shohat, M. (2014) The many faces of sensorineural hearing loss: one founder and two novel mutations affecting one family of mixed Jewish ancestry. Genet. Test. Mol. Biomarkers. 18:123-126. PMCID: PMC3926139
Takada, Y., Beyer, L.A., Swiderski, D.L., O'Neal, A.L., Prieskorn, D.M., Shivatzki, S., Avraham, K.B., and Raphael, Y. (2013) Connexin 26 null mice exhibit spiral ganglion degeneration that can be blocked by BDNF gene therapy. Hear. Res. 309C:124-135. PMCID: PMC3946535
Brownstein, Z.*, Abu-Rayyan, A.*, Karfunkel-Doron, D., Sirigu, S., Davidov, B., Shohat, M., Frydman, M., Houdusse, A., Kanaan, M., and Avraham, K.B. (2013) Novel myosin mutations for hereditary hearing loss revealed by targeted genomic capture and massively parallel sequencing. Eur. J. Hum. Genet. 22:768-75. PMID: 24105371
Ehmann, H., Hartwich, H., Salzig, C., Hartmann, N., Clément-Ziza, M., Ushakov, K., Avraham, K.B., Bininda-Emonds, O.R.P., Hartmann, A.K., Lang, P., Friauf, E., and Nothwang, H.G. (2013) Time-dependent gene expression analysis of the developing superior olivary complex. J. Biol. Chem. 288:25865-25879. PMCID: PMC3764792
Parzefall T.*, Shivatzki, S.*, Lenz, D.R., Rathkolb, B., Ushakov, K., Karfunkel, D., Shapira, Y., Wolf, M., Mohr, M., Wolf, E., Sabrautzki, S., Hrabé de Angelis, M., Frydman, M., Brownstein, Z., and Avraham, K.B. (2013) Cytoplasmic mislocalization of POU3F4 due to novel mutations leads to deafness in humans and mice. Hum. Mutat. 34:1102-1110. PMID: 23606368
Horn, H.F.*, Brownstein, Z.*, Lenz, D.R., Shivatzki, S., Dror, A.A., Dagan-Rosenfeld, O., Friedman, L.M., Roux, K.J., Kozlov, S., Jeang, K.-T., Frydman, M., Burke, B., Stewart, C.L., and Avraham, K.B. (2013) The LINC complex is essential for hearing. J. Clin. Invest. 123:740-750. PMCID: PMC3561815
Rosengauer, E., Hartwich, H., Hartmann, A.M., Rudnicki, A., Satheesh, S.V., Avraham, K.B. and Nothwang, H.G. (2012) Egr2::Cre mediated conditional ablation of Dicer disrupts histogenesis of mammalian central auditory nuclei. PLoS One. 7:e49503. PMCID: PMC3495878
Brownstein Z*, Friedman LM*, Shahin H, Oron-Karni V, Kol N, Abu Rayyan A, Parzefall T, Lev D, Shalev S, Frydman M, Davidov B, Shohat M, Rahile M, Lieberman S, Levy-Lahad E, Lee M, Shomron N, King M-C, Walsh T, Kanaan M, Avraham KB (2011) Targeted genomic capture and massively parallel sequencing to identify genes for hereditary hearing loss in Middle Eastern families. Genome Biol. 12: R89. PMCID: PMC3308052.
Elkan-Miller, T., Ulitsky, I., Hertzano, R., Rudnicki, A., Dror, A.A., Lenz, D.R., Elkon, R., Irmler, M., Beckers, J., Shamir, R. and Avraham, K.B. (2011) Integration of transcriptomics, proteomics, and microRNA analyses reveals novel microRNA regulation of targets in the mammalian inner ear. PLoS One 6: e18195.
Paz, A., Brownstein, Z., Ber, Y., Bialik, S., David, E., Sagir, D., Ulitsky, I., Elkon, R., Kimchi, A., Avraham, K.B., Shiloh, Y. and Shamir, R. (2011) SPIKE: a database of highly curated human signaling pathways. Nucleic Acids Res. 39: D793-793.
Dossena, S., Nofziger, C., Brownstein, Z., Kanaan, M., Avraham, K.B. and Paulmichl, P. (2011) Functional characterization of pendrin mutations found in the Israeli and Palestinian populations. Cell. Physiol. Biochem, 28: 28:477-484. PMID: 22116360
Wainreb, G., Ashkenazy, H., Bromberg, Y., Starovolsky-Shitrit, A., Haliloglu, T., Ruppin, E., Avraham, K.B., Rost, B. and Ben-Tal, N. (2010) MuD: an interactive web server for the prediction of non-neutral substitutions using protein structural data. Nucleic Acids Res. 38: W523-528.
Walsh, V.L.*, Raviv, D.*, Dror, A.A., Shahin, H., Walsh, T., Kanaan, M.N., Avraham, K.B. and King, M.-C. (2010) A mouse model for human hearing loss DFNB30 due to loss of function of myosin IIIA. Mamm. Genome 22: 170-177.
Lenz, D.R., Dror, A.A., Wekselman, G. Fuchs, H., Hrabé de Angelis, M. and Avraham, K.B. (2010) The inner ear phenotype of Volchok (Vlk): an ENU-induced mouse model for CHARGE syndrome. Audiol. Med. 8: 110-119.
Atar, O. and Avraham, K.B. (2010) Anti-apoptotic factor z-val-ala-asp-fluoromethylketone promotes the survival of cochlear hair cells in a mouse model for human deafness. Neurosci. 168: 851–857.
Dror, A.A., Politi, Y., Shahin, H., Lenz, D.R., Dossena, S., Nofziger, C., Fuchs, H., Hrabé de Angelis, M., Paulmichl, M., Weiner, S. and Avraham, K.B. (2010). Calcium oxalate stone formation in the inner ear as a result of an Slc26a4 mutation. J. Biol. Chem. 285: 21724-21735. PMID: 20442411
Walsh, T., Pierce, S.B., Lenz, D.R., Brownstein, Z., Dagan-Rosenfeld, O., Shahin, H., Roeb, W., McCarthy, S., Nord, A.S., Gordon, C.R., Ben-Neriah, Z., Sebat, J., Kanaan, M., Lee, M.K., Frydman, M., King, M.-C. and Avraham, K.B. (2010) Genomic duplication and over-expression of TJP2/ZO-2 leads to altered expression of apoptosis genes in progressive non-syndromic hearing loss DFNA51. Am. J. Hum. Genet. 87: 101-109. PMID: 20602916
Walsh, T., Shahin, H., Elkan-Miller, T., Lee, M.K., Thornton, A.M., Roeb, W., Abu Rayyan, A., Loulus, S., Avraham, K.B., King, M.-C. and Kanaan, M. (2010) Whole exome sequencing and homozygosity mapping identify mutation in the cell polarity protein GPSM2 as the cause of non-syndromic hearing loss DFNB82. Am. J. Hum. Genet. 87: 1-5.
Shahin, H., Rahil, M., Abu Rayan, A., Avraham, K.B., King, M.-C., Kanaan, M. and Walsh, T. (2010) Nonsense mutation of the stereociliar membrane protein gene PTPRQ in human hearing loss DFNB84. J. Med. Gen. 47: 643-645.
Shefer, S., Gordon, C.R., Avraham, K.B. and Mintz, M. (2010) Progressive vestibular mutation leads to elevated anxiety. Brain Res. 1317: 157–164.
Shahin, H., Walsh, T., Rayyan, A.A., Lee, M.K., Higgins, J., Dickel, D., Lewis, K., Thompson, J., Baker, C., Nord, A.S., Stray, S., Gurwitz, D., Avraham, K.B., King, M.C. and Kanaan, M. (2009) Five novel loci for inherited hearing loss mapped by SNP-based homozygosity profiles in Palestinian families. Eur. J. Hum. Genet. 18: 407-413.
Friedman LM, Dror AA, Mor E, Tenne T, Toren G, Satoh T, Biesemeier DJ, Shomron N, Fekete DM, Hornstein E, Avraham KB (2009) MicroRNAs are essential for development and function of inner ear hair cells in vertebrates. Proc. Natl. Acad. Sci. USA, 106: 7915-7920.
Avni, R., Elkan, T., Dror, A.A., Shefer, S., Eilam, D., Avraham, K.B. and Mintz, M. (2009) Mice with vestibular deficiency display hyperactivity, disorientation, and signs of anxiety. Behav. Brain Res. 14202: 210-217.
Geller, S.F., Guerin, K.I., Visel, M., Pham, A., Lee, E.S., Dror, A.A., Avraham, K.B., Hayashi, T., Ray, C.A., Reh, T.A., Bermingham-McDonogh, O., Triffo, W.J., Bao, S., Isosomppi, J., Västinsalo, H., Sankila, E.M. and Flannery, J.G. (2009) CLRN1 is nonessential in the mouse retina but is required for cochlear hair cell development. PLoS Genet. 5:e1000607.
Hertzano, R.*, Shalit, E.*, Rzadzinska, A.K.*, Dror, A.A., Song, L., Ron, U., Tan, J.T., Starovolsky Shitrit, A., Fuchs, H., Hasson, T., Ben-Tal, N., Sweeney, H.L., Hrabe de Angelis, M., Steel, K.P. and Avraham, K.B. (2008) A Myo6 mutation destroys coordination between the myosin heads, revealing new functions of myosin VI in the stereocilia of mammalian inner ear hair cells. PLoS Genet. 4:e1000207. PMID: 18833301
Brownstein, Z.N., Dror, A.A., Gilony, D., Migirov, L., Hirschberg, K. and Avraham, K.B. (2008) A novel PDS deafness mutation is retained in the endoplasmic reticulum. Arch. Otolaryn. Head Neck Surg. 134:403-407. PMID:18427006.
Hertzano, R., Dror, A.A., Montcouquiol, M., Ahmed, Z., Ellsworth, B., Camper, S., Friedman, T.B., Kelley, M.W. and Avraham, K.B. (2007) Lhx3, a LIM domain transcription factor, is regulated by Pou4f3 in the auditory, but not in the vestibular system. Eur. J. Neurosci. 25:999-1005.
Fleishman, S.J.*, Sabag, A.D.*, Ophir, E., Avraham, K.B. and Ben-Tal, N. (2006) The structural context of disease-causing mutations in gap junctions. J. Biol. Chem. 281: 28958-28963. PMID: 16864573
Brownstein, Z., Goldfarb, A., Levi, H., Frydman, M. and Avraham, K.B. (2006) Chromosomal mapping and phenotypic characterization of hereditary otosclerosis linked to the OTSC4 locus. Arch. Otolaryn. Head Neck Surg. 132: 416-424.
Walsh, T., Abu Rayan, A., Abu Sa’ed, J., Shahin, H., Lee, M.K., Hirschberg, K., Tekin, M., Avraham, K.B., King, M.-C. and Kanaan, M. (2006) Genomic analysis of a heterogeneous Mendelian phenotype: multiple novel alleles for inherited hearing loss in the Palestinian population. Hum. Genomics 2: 203-211.
Taitelbaum-Swead, R., Brownstein, Z., Muchnik, C., Megirov, L., Kishon-Rabin, L., Kronenberg, J., Hildesheimer, M. and Avraham, K.B. (2006) Connexin-associated deafness and speech perception outcome of cochlear implantation. Arch. Otolaryn. Head Neck Surg. 132: 495-500.
Fiolka, K., Hertzano, R., Vassen, L., Zeng, H., Hermesh, O., Avraham, K.B., Dührsen, U. and Möröy, T. (2006) Gfi1 and Gfi1b act equivalently in hematopoiesis but have distinct, nonoverlapping functions in inner ear development. EMBO Rep. 7: 326-333.
Shahin, H., Walsh, T., Sobe, T., Abu Sa'ed, J., Abu Rayan, A., Lynch, E.D., Lee, M.K., Avraham, K.B., King, M.-C. and Kanaan, M. (2006) Mutations in a novel isoform of TRIOBP that encodes a filamentous-actin binding protein are responsible for DFNB28 recessive nonsyndromic hearing loss. Am. J. Hum. Genet. 78: 144-152. PMCID: PMC1380212
Snoeckx, R.L., Huygen, P.L.M., Feldmann, D., Marlin, S., Denoyelle, F., Waligora, J, Mueller-Malesinska, M., Pollak, A., Ploski, R., Murgia, A., Orzan, E., Castorina, P., Ambrosetti, U., Nowakowska-Szyrwinska, E., Bal, J., Wiszniewski, W., Janecke, A.R., Nekahm-Heis, D., Seeman, P., Olga Bendova, O., Kenna, M.A., Frangulov, A., Rehm, H.L., Tekin, M., Incesulu, A., Dahl, H.-H.M., du Sart, D., Jenkins, L., Lucas, D., Bitner-Glindzicz, M., Avraham, K.B., Brownstein, Z., del Castillo, I., Moreno, F., Blin, N., Pfister, M., Sziklai, I., Toth, T., Kelley, P.M., Cohn, E.S., Van Maldergem, L., Hilbert, P., Roux, A.-F., Mondain, M., Hoefsloot, L.H., Cremers, C.W.R.J., Löppönen, T., Löppönen, H., Parving, A., Gronskov, K., Schrijver, I., Roberson, J., Gualandi, F., Martini, A., Lina-Granade, G., Pallares-Ruiz, N., Correia, C., Fialho, G., Cryns, K., Hilgert, N., Van de Heyning, P., Nishimura, C.J., Smith, R.J.H. and Van Camp, G. (2005) GJB2 mutations and degree of hearing loss: a multi-center study. Am. J. Hum. Genet. 77: 945-957.
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Clough, R.L., Sud, R., Davis-Silberman, N., Hertzano, R., Avraham, K.B., Holley, M. and Dawson, S.J. (2004) Brn-3c (POU4F3) regulates BDNF and NT-3 promoter activity. Biochem. Biophys. Res. Commun. 324: 372-381.
Rhodes, C.R.*, Hertzano, R.*, Fuchs, H., Bell, R.E., Hrabé de Angelis, M., Steel, K.P. and Avraham, K.B. (2004) A Myo7a mutation co-segregates with stereocilia defects and low frequency hearing impairment. Mamm. Genome 15: 686-697. PMID: 15389316
Hertzano, R., Montcouquiol, M., Rashi-Elkeles, S., Elkon, R., Yücel, R., Frankel, W.N., Rechavi, G., Möröy, T., Friedman, T.B., Kelley, M.W. and Avraham, K.B. (2004) Transcription profiling of inner ears from Pou4f3ddl/ddl identifies Gfi1 as a target of the Pou4f3 deafness gene. Hum. Molec. Genet. 13: 2143-2153.
Ahituv, N.*, Erven, A.*, Fuchs, H., Guy, K., Ashery-Padan, R., Williams, T., Hrabé de Angelis, M., Avraham, K.B. and Steel, K.P. (2004) An ENU-induced mutation in AP-2a leads to middle ear and ocular defects in Doarad mice. Mamm. Genome 15: 424-432. PMID: 15181535
Seiler, C.*, Ben-David, O.*, Sidi, S., Hendrich, O., Rusch, A., Burnside, B., Avraham, K.B. and Nicolson, T. (2004) Myosin VI is required for structural integrity of the apical surface of sensory hair cells in zebrafish. Dev. Biol. 272: 328-338.
Brownstein, Z., Ben-Yosef, T., Dagan, O., Frydman, M., Abeliovich, D., Sagi, M., Abraham, F.A., Taitelbaum-Swead, R., Shohat, M., Hildesheimer, M., Friedman, T.B. and Avraham, K.B. (2004) The R245X mutation of PCDH15 in Ashkenazi Jewish children diagnosed with nonsyndromic hearing loss foreshadows retinitis pigmentosa. Pediatr. Res. 55: 995-1000.
Weiss, S., Gottfried, I., Mayrose, I., Khare, S.L., Xiang, M., Dawson, S.J. and Avraham, K.B. (2003) The DFNA15 deafness mutation affects POU4F3 protein stability, localization and transcriptional activity. Mol. Cell. Biol. 23: 7957-7964. PMID: 14585957
del Castillo, I., Moreno-Pelayo, M.A., del Castillo, F.J., Brownstein, Z., Marlin, S., Adina, Q., Cockburn, D.J., Pandya, A., Siemering, K.R., Chamberlin, G.P., Ballana, E., Wuyts, W., Maciel-Guerra, A.T., Álvarez, A., Villamar, M., Shohat, M., Abeliovich, D., Dahl, H.-H.M., Estivill, X., Gasparini, P., Hutchin, T., Nance, W.E., Sartorato, E.L., Smith, R.J.H., Van Camp, G., Avraham, K.B., Petit, C. and Moreno, F. (2003) Prevalence and evolutionary origins of the del(GJB6-D13S1830) mutation in the DFNB1 locus in hearing impaired subjects: a multicentric study. Am. J. Hum. Genet. 73:1452-1458.
Karolyi, I.J., Probst, F.J., Beyer, L., Odeh, H., Dootz, G., Cha, K.B., Martin, D.M., Avraham, K.B., Kohrman, D., Dolan, D.F., Raphael, Y. and Camper, S.A. (2003) Myo15 gene function is independent of Myo6, Myo7a, and pirouette genes in cochlear stereocilia. Hum. Molec. Genet. 12: 2797-2805.
Ness, S.L., Ben-Yosef, T., Bar-Lev, A., Madeo, A.C., Brewer, C.C., Avraham, K.B., Kornreich, R., Desnick, R.J., Willner, J.P., Friedman, T.B. and Griffith, A.J. (2003) Genetic homogeneity and phenotypic variability among Ashkenazi Jews with Usher syndrome type III. J. Med. Genet. 40: 767-772.
Donaudy, F., Ferrara, A., Esposito, L., Hertzano, R., Ben-David, O., Bell, R.E., Melchionda, S., Zelante, L., Avraham, K.B., Gasparini, P. (2003) Multiple mutations of MYO1A, a cochlear expressed gene, in sensorineural hearing loss. Am. J. Hum. Genet. 72: 1571-1577.
RamShankar, M., Girirajan, S., Dagan, O., Ravi Shankar, H.M., Jalvi, R., Rangasayee, R., Avraham, K.B., Anand, A. (2003) Contribution of connexin 26 (GJB2) mutations and founder effect to non-syndromic hearing loss in India. J. Med. Genet. 40: e68.
Ben-Yosef, T., Ness, S.L., Madeo, A.C., Bar-Lev, A., Wolfman, J.H., Ahmed, Z.M., Desnik, R.J., Willner, J.P., Avraham, K.B., Ostrer, H., Oddoux, C., Griffith, A.J. and Friedman, T.B. (2003) A mutation of PCDH15 among Ashkenazi Jews with the Type 1 Usher syndrome. N. Engl. J. Med. 348: 1664-1670.
Adato, A., Vreugde, S., Joensuu, T., Avidan, N., Hamalainen, R., Belenkiy, O., Olender, T., Bonne-Tamir, B., Ben-Asher, E., Espinos, C., Millán, J.M., Lehesjoki, A.-E., Flannery, J.G., Avraham, K.B., Pietrokovski, S., Sankila, E.-M., Beckmann, J.S. and Lancet, D. (2002) USH3A transcripts encode clarin-1, a four-transmembrane-domain protein with a possible role in sensory synapses. Eur. J. Hum. Genet. 10: 339-350.
Walsh, T., Walsh, V., Vreudge, S., Hertzano, R., Shahin, H., Haika, S., Lee, M.K., Kanaan, M., King, M.-C. and Avraham, K.B. (2002) From flies' eyes to our ears: Mutations in a human class III myosin cause progressive nonsyndromic hearing loss DFNB30. Proc. Natl. Acad. Sci. USA. 99: 7518-7523. PMCID:PMC124268
Gottfried, I., Landau, M., Glaser, F., Di, W.-L., Ophir, J., Mevorah, B., Ben-Tal, N., Kelsell, D.P. and Avraham, K.B. (2002) A mutation in GJB3 is associated with recessive erythrokeratodermia variabilis (EKV) and leads to defective trafficking of the connexin 31 protein. Hum. Molec. Genet. 11: 1311-1316. PMID:12019212
Zwaenepoel, I., Mustapha, M., Leibovici, M., Verpy, E., Goodyear, R., Liu, X. Z., Nouaille, S., Nance, W.E., Kanaan, M., Avraham, K.B., Tekaia, F., Loiselet, J., Lathrop M., Richardson, G. and Petit, C. (2002) Otoancorin, an inner ear protein restricted to the interface between the apical surface of sensory epithelia and their overlying acellular gels, is defective in autosomal recessive deafness DFNB22. Proc. Natl. Acad. Sci. USA 99: 6240-6245. PMCID: PMC122933
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Shahin, H., Walsh, T., Sobe, T., Lynch, E., King, M.-C., Avraham, K.B. and Kanaan, M. (2002) Genetics of congenital deafness in the Palestinian population: Multiple connexin 26 alleles with shared origins in the Middle East. Hum. Genet. 110 :284–289.
Melchionda, S.*, Ahituv, N.*, Bisceglia, L., Sobe, T., Glaser, F., Rabionet, R., Arbones, M.L., Notarangelo, A., Di Iorio, E., Carella, M., Zelante, L., Estivill, X. Avraham, K.B. and Gasparini, P. (2001) 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. 69: 635-640.
López-Bigas, N., Olivé, M., Rabionet, R., Ben-David, O., Martínez-Matos, J.A., Olga Bravo, O., Banchs, I., Volpini, V., Gasparini, P., Avraham, K.B., Ferrer, I., Lourdes Arbonés, M. and Estivill, X. (2001) Connexin 31 (GJB3) amino acid deletion in peripheral neuropathy. Hum. Molec. Genet. 10: 947-952.
Kiernan, A.E.*, Ahituv, N.*, Fuchs, H., Balling, R., Avraham, K.B., Steel, K.P. and Hrabé de Angelis, M. (2001) The Notch ligand Jagged1 is required for inner ear sensory development. Proc. Natl. Acad. Sci. USA. 98: 3873-3878.
Ahituv, N., Sobe, T., Robertson, N.G., Morton, C.C., Taggart, R.T. and Avraham, K.B. (2000) Genomic structure of the human unconventional myosin VI gene. Gene 261: 269-275.
Hrabe de Angelis, M., Flaswinkel, H, Fuchs, H., Rathkolb, B., Soewarto, D., Marschall, S., Heffner, S., Pargent, W., Wuensch, K., Jung, M., Reis, A., Richter, T., Alessandrini, F., Jakob, T., Fuchs, E., Kolb, H., Kremmer, E., Schaeble, K., Rollinski, B., Roscher, A., Peters, C., Meitinger, T., Strom, T., Steckler, T., Holsboer, F., Klopstock, T., Gekeler, F., Schindewolf, C., Jung, T., Avraham, K.B., Behrendt, H., Ring, J., Zimmer, A., Schughart, K., Pfeffer, K., Wolf, E. and Balling, R. (2000) Genome-wide, large-scale production of mutant mice by ENU mutagenesis. Nature Genet. 25: 444-447.
Frydman, M.*, Vreugde, S.*, Nageris, B.I., Weiss, S., Vahava, O. and Avraham, K.B. (2000) Clinical characterization of genetic hearing loss caused by a mutation in the POU4F3 transcription factor. Arch. Otolaryn. Head Neck Surg. 126: 633-637.
Sobe, T., Vreugde, S., Shahin, H., Davis, N., Berlin, M., Kanaan, M., Yaron, Y., Orr-Urtreger, A., Frydman, M., Shohat, M. and Avraham, K.B. (2000) The prevalence and expression of inherited connexin 26 mutations associated with nonsyndromic hearing loss in the Israeli population. Hum. Genet. 106: 50-57.
Kiernan, A.E., Zalzman, M., Fuchs, H., Hrabe de Angelis, M., Balling, R., Steel, K.P. and Avraham K.B. (1999) Tailchaser (Tlc): a new mouse mutation affecting hair cell survival and hair bundle morphogenesis. J. Neurocytol. 28: 969-985.
Self, T., Sobe, T., Copeland, N.G., Jenkins, N.A., Avraham, K.B. and Steel, K.P. (1999) Role of myosin VI in the differentiation of cochlear hair cells. Dev. Biol. 214: 331-341.
Sobe, T., Erlich, P., Berry, A., Korostichevsky, M., Vreugde, S., Shohat, M., Avraham, K.B. and Bonné-Tamir, B. (1999) High frequency of the deafness-associated 167delT mutation in the connexin 26 (GJB2) gene in Israeli Ashkenazim. Am. J. Med. Genet. 86: 499-500.
Varfolomeev, E.E., Schuchmann, M., Luria, V., Chiannilkulchai, N., Beckmann, J.S., Mett, I.L., Rebrikov, D., Brodianski, V.M., Kemper, O.C., Kollet, O., Lapidot, T.S., Soffer, D., Sobe, T., Avraham, K.B., Goncharov, T., Holtmann, H., Lonai, P. and Wallach, D. (1998) Targeted disruption of the mouse caspase-8 gene ablates cell-death induction by the TNF receptors, Fas/Apo1, and DR3 and is lethal prenatally. Immunity 9: 267-276.
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Avraham, K.B., Hasson, T., Sobe, T., Balsara, B., Testa, J.R., Skvorak, A.B., Morton, C.C., Copeland, N.G. and Jenkins, N.A. (1997) Characterization of unconventional MYO6, the human homologue of the gene responsible for deafness in Snell's waltzer mice. Hum. Molec. Genet. 6: 1225-1231.
Self, T.J., Avraham, K.B. and Steel, K.P. (1997) A scanning electron microscope study of the development of the mouse mutant Snell's waltzer. Brit. J. Audiol. 31: 82.
Hasson, T., Skowron, J.F., Gilbert, D.J., Avraham, K.B., Perry, W.L., Bement, W.M., Anderson, B.L., Sherr, E.H., Chen, Z.-Y., Greene, L.A., Ward, D.C., Corey, D.P., Mooseker, M.S., Copeland, N.G. and Jenkins, N.A. (1996) Mapping of unconventional myosins in mouse and man. Genomics 36: 431-439.
Berger, R., Theodor, L., Shoham, J., Gokkel, E., Brok-Simoni, F., Avraham, K.B., Copeland, N.G., Jenkins, N.A., Rechavi, G. and Simon, A.J. (1996) The molecular characterization and localization of the mouse Thymopoietin (Tmpo)/lamina-associated polypeptide 2 (LAP2) gene and its alternatively spliced products. Genome Res. 6: 361-370.
Pecker, I., Avraham, K.B., Gilbert, D.J., Savitsky, K., Rotman, G., Harnik, R., Fukao, T., Schrock, E., Hirotsune, S., Tagle, D.A., Collins, F.S., Wynshaw-Boris, A., Ried, T., Copeland, N.G., Jenkins, N.A., Shiloh, Y. and Ziv, Y. (1996) Identification and chromosomal localization of Atm, the mouse homolog of the ataxia-telangiectasia gene. Genomics 35: 39-45.
Avraham, K.B., Hasson, T., Steel, K.P., Kingsley, D.M., Russell, L.B., Mooseker, M.S., Copeland, N.G. and Jenkins, N.A. (1995) The mouse Snell’s waltzer deafness gene encodes an unconventional myosin required for the structural integrity of inner ear hair cells. Nature Genet. 11: 369-375.
Santoro, T., Maguire, J., McBride, O.W., Avraham, K.B., Copeland, N.G., Jenkins, N.A. and Kelly, K. (1995) Chromosomal organization and transcriptional regulation of human GEM and localization of the human and mouse GEM loci encoding an inducilble ras-like protein. Genomics 30: 558-564.
Chen, H., Thalmann, I., Adams, J. C., Avraham, K.B., Copeland, N.G., Jenkins, N.A., Beier, D.R., Corey, D.P., Thalmann, R. and Duyk, G.M. (1995) cDNA cloning, tissue distribution, and chromosomal localization of Ocp2, a gene encoding a putative transcription-associated factor predominantly expressed in the auditory organs. Genomics 27: 389-398.
Avraham, K.B., Levanon, D., Negreanu, V., Bernstein, Y., Groner, Y., Copeland, N.G. and Jenkins, N.A. (1995) Mapping of the murine homolog of the human runt domain gene, AML2, to the distal region of mouse chromosome 4. Genomics 25: 603-605.
Avraham, K.B., Fletcher, C., Overdier, D.G., Clevidence, D.E., Lai, E., Costa, R.H., Jenkins, N.A. and Copeland, N.G. (1995) Murine chromosomal location of eight members of the hepatocyte nuclear factor 3/fork head winged helix family of transcription factors. Genomics 25: 388-393.
Avraham, K.B., Givol, D., Avivi, A., Yayon, A., Copeland, N.G. and Jenkins, N.A. (1994) Mapping of murine fibroblast growth factor receptors refines regions of homology between mouse and human chromosomes. Genomics 21: 656-658.
Okazaki, T., Yoshida, B.N., Avraham, K.B., Wang, H., Wuenschell, C.W., Jenkins, N.A., Copeland, N.G., Anderson, D.J. and Mori, N. (1993) Molecular diversity of the SCG10/stathmin gene family in the mouse. Genomics 18: 360-373.
Avraham, K.B., Cho, B.C., Gilbert, D., Fujii, H., Okamoto, K., Shimazaki, T., Ito, T., Shoji, H., Wakamatsu, Y., Kondoh, H., Takahashi, N., Muramatsu, M., Hamada, H., Copeland, N.G. and Jenkins, N.A. (1993) Murine chromosomal location of four class III POU transcription factors. Genomics 18: 131-133.
White, C.W., Nguyen, D. H., Suzuki, K., Taniguchi, N., Rusakow, L.S., Avraham, K.B. and Groner, Y. (1993) Expression of manganese superoxide dismutase is not altered in transgenic mice with elevated level of copper-zinc superoxide dismutase. Free Rad. Biol. Med. 15: 629-636.
Shanley, P.F., White, C.W., Avraham, K.B., Groner, Y. and Burke, T.J. (1992) Use of transgenic animals to study disease models: Hyperoxic lung injury and ischemic acute renal failure in "high SOD" mice. Renal Fail. 14: 391-394.
Avraham, K.B., Prezioso, V.R., Chen, W.S., Lai, E., Sladek, F.M., Zhong, W., Darnell, J.E., Jr., Jenkins, N.A. and Copeland, N.G. (1991) Murine chromosomal location of four hepatocyte-enriched transcription factors: HNF-3a, HNF-3b, HNF-3g and HNF-4. Genomics 13: 264-268.
White, C.W., Avraham, K.B., Shanley, P. and Groner, Y. (1991) Transgenic mice with expression of elevated levels of copper-zinc superoxide dismutase in the lungs are resistant to pulmonary oxygen toxicity. J. Clin. Invest. 87: 2162-2168.
Avraham, K.B., Sugarman, H., Rotshenker, S. and Groner, Y. (1991) Down’s syndrome: Morphological remodelling and increased complexity in the neuromuscular junction of transgenic CuZn-superoxide dismutase mice. J. Neurocyt. 20: 208-215.
Shickler, M., Knobler, H., Avraham, K.B., Elroy-Stein, O. and Groner, Y. (1989) Diminished serotonin uptake in platelets of transgenic mice with increased Cu/Zn-superoxide dismutase activity. EMBO J. 8: 1385-1392.
Yarom, R., Sapoznikov, D., Havivi, Y., Avraham, K.B., Schickler, M. and Groner, Y. (1988) Premature aging changes in neuromuscular junctions of transgenic mice with an extra human CuZnSOD gene: A model for tongue pathology in Down's syndrome. J. Neurol. Sci. 88: 41-53.
Avraham, K.B., Schickler, M., Sapoznikov, D., Yarom, R. and Groner, Y. (1988) Down's syndrome: Abnormal neuromuscular junction in tongue of transgenic mice with elevated levels of human Cu/Zn-superoxide dismutase. Cell 54: 823-829.
Epstein, C.J., Avraham, K.B., Lovett, M., Smith, S., Elroy-Stein, O., Rotman, G., Bry, C. and Groner, Y. (1987) Transgenic mice with increased Cu/Zn-superoxide dismutase activity: Animal model of dosage effects in Down syndrome. Proc. Natl. Acad. Sci. USA 84: 8044-8048.
