Repair of noise-induced damage to stereocilia F-actin cores is facilitated by XIRP2 and its novel mechanosensor domain

Wagner EL, Im JS, Sala S, Nakahata MI, Imbery TE, Li S, Chen D,Nimchuk K, Noy Y, Archer DW, Xu W, Hashisaki G, Avraham KB, Oakes P, Shin J-B

Low level of GOSR2 translation from a non-AUG start codon in a family with profound hearing loss

Aburayyan A*, Carlson RJ*, Rabie GN, Lee MK, Gulsuner S, Walsh T, Avraham KB, Kanaan MN, King MC

Bats experience age-related hearing loss (presbycusis)

​Tarnovsky YC, Taiber S, Nissan Y, Boonman A, Assaf Y, Wilkinson GS, Avraham KB, Yovel Y

Molecular features of SLC26A4 common variant p.L117F

Matulevicius A, Bernardinelli E, Brownstein Z, Roesch S, Avraham KB, Dossena S

Autosomal dominant non-syndromic hearing loss maps to DFNA33 (13q34) and co-segregates with splice and frameshift variants in ATP11A, a phospholipid flippase gene

​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

PNPT1, MYO15A, PTPRQ, and SLC12A2-associated genetic and phenotypic heterogeneity among hearing impaired assortative mating families in Southern India.

​Vanniya PS, Chandru J, Jeffrey JM, Rabinowitz T, Brownstein Z, Krishnamoorthy M, Avraham KB, Le Cheng L, Shomron N, Srikumari Srisailapathy CR.

A Nesprin-4/kinesin-1 cargo model for nuclear positioning in cochlear outer hair cells

Taiber S, Gozlan O, Cohen R, Andrade LR, Gregory EF, Starr DA, Moran Y, Hipp R, Kelley MW, Manor U, Sprinzak D, Avraham KB

Disease-specific ACMG/AMP guidelines improve sequence variant interpretation for hearing loss

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.

United by hope, divided by access: Country mapping of COVID-19 information accessibility and its consequences on pandemic eradication

Dror AA, Layous E, Mizrachi M, Daoud A, Eisenbach N, Morozov NG, Srouji S, Avraham KB*, Sela E

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)

Rabinski T, Sagiv S, Hausman-Kedem, Fattal-Valevski, Rubinstein M, Avraham, KB, Vatine GD

AAV gene therapy rescues hearing in a mouse model of SYNE4 deafness

Taiber S, Cohen R, Yizhar-Barnea O, Sprinzak D, Holt JR, Avraham KB

A synonymous variant in MYO15A enriched in the Ashkenazi Jewish population causes autosomal recessive hearing loss due to abnormal splicing

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*

Identification and characterization of key long non-coding RNAs in the mouse cochlea

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

Auditory Performance in Recovered SARS-COV-2 Patients

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*

Homozygote loss-of-function variants in the human COCH gene underlie hearing loss

Danial-Farran N, Chervinsky E, Nadar Ponniah PT, Cohen Barak E, Taiber S, Khayat M, Avraham KB, Shalev SA.

Expression pattern of cochlear microRNAs in the mammalian auditory hindbrain

Krohs C, Bordeynik-Cohen M, Messika-Gold N, Elkon R, Avraham KB, Nothwang HG.

Mechanical forces drive ordered patterning of hair cells in the mammalian inner ear

Cohen R, Amir-Zilberstein L, Hersch M, Woland S, Taiber S, Matsuzaki F, Bergmann S, Avraham KB, Sprinzak D.

Spectrum of genes for inherited hearing loss in the Israeli Jewish population, including the novel human deafness gene ATOH1

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.

Genomic analysis of inherited hearing loss in the Palestinian population

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.

Striatin is required for hearing and affects inner hair cells and ribbon synapses

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*.

A mouse model for benign paroxysmal positional vertigo (BPPV) with genetic predisposition for displaced otoconia

Dror AA, Taiber S, Sela E, Handzel O, Avraham KB.

Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel

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.

Atypical auditory brainstem response and protein expression aberrations related to ASD and hearing loss in the Adnp haploinsufficient mouse brain

Hacohen-Kleiman, G., Yizhar-Barnea, O., Touloumi, O., Lagoudaki, R., Avraham, K.B., Grigoriadis, N., Gozes, I.

Striatin is a novel modulator of cell adhesion

Lahav-Ariel, L., Caspi, M., Thangaraj P., Hofmann, I., Hanson, K.K., Sklan, E.H., Werner Franke, W., Avraham, K.B., Rosin-Arbesfeld, R.

DNA methylation dynamics during embryonic development and postnatal maturation of the mouse auditory sensory epithelium

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.

Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss

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.

Genetics of hearing loss in the Arab population of northern Israel

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.*

Computational analysis of mRNA expression profiling in the inner ear reveals candidate transcription factors associated with proliferation, differentiation, and deafness

Perl, K., Shamir, R., Avraham, K.B.

miR-96 is required for normal development of the auditory hindbrain

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.

Genome-wide identification and expression profiling of long non-coding RNAs in auditory and vestibular systems

Ushakov, K., Koffler-Brill, T., Rom, A., Perl, K., Ulitsky, I., Avraham, K.B.

Reduced changes in protein compared to mRNA levels across non-proliferating tissues

Perl, K., Ushakov, K., Pozniak, Y., Yizhar-Barnea, O., Bhonker, Y., Shivatzki, S., Geiger, T., Avraham, K.B.*, Shamir, R.*

The acquisition of mechano-electrical transducer current adaptation in auditory hair cells requires myosin VI

Marcotti, W., Corns, L.F., Goodyear, R.J., Rzadzinska, A.K., Avraham, K.B., Steel, K.P., Richardson, G. and Kros, C.J.

Hearing loss patterns after cochlear implantation via the round window in an animal model

Attias, J., Hod, R., Raveh, E., Mizrachi, A., Avraham, K.B., Lenz, D.R. and Nageris, B.I.

The GPSM2/LGN GoLoco motifs are essential for hearing

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.

Balance deficit enhances anxiety and balance training decreases anxiety in vestibular mutant mice

Shefer, S., Gordon, C., Avraham, K.B. and Mintz, M.

Ankrd6 is a mammalian functional homolog of Drosophila planar cell polarity gene diego and regulates coordinated cellular orientation in the mouse inner ear

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

Apparent phenotypic anticipation in autosomal dominant connexin 26 deafness

Sokolov, M., Brownstein, Z., Frydman, M. and Avraham, K.B.

Next-generation sequencing of small RNAs from inner ear sensory epithelium identifies microRNAs and defines regulatory pathways

Rudnicki, A.*, Isakov, O.*, Ushakov, K., Shivatzki, S., Weiss, I., Friedman, L.M., Shomron, N. and Avraham, K.B.

Atrophic thyroid follicles and inner ear defects reminiscent of cochlear hypothyroidism in Slc26a4-related deafness

Dror A.A., Lenz, D.R., Shivatzki, S., Cohen, K., Ashur-Fabian, O. and Avraham, K.B.

microRNA-224 regulates Pentraxin 3, a component of the humoral arm of innate immunity, in inner ear inflammation

Rudnicki, A., Shivatzki, S., Beyer, L.A., Takada, Y., Raphael, Y. and Avraham, K.B.

The many faces of sensorineural hearing loss: one founder and two novel mutations affecting one family of mixed Jewish ancestry

Behar, D.M., Davidov, B., Brownstein, Z., Ben-Yosef, T., Avraham, K.B., and Shohat, M.

Connexin 26 null mice exhibit spiral ganglion degeneration that can be blocked by BDNF gene therapy

Takada, Y., Beyer, L.A., Swiderski, D.L., O'Neal, A.L., Prieskorn, D.M., Shivatzki, S., Avraham, K.B., and Raphael, Y.

Novel myosin mutations for hereditary hearing loss revealed by targeted genomic capture and massively parallel sequencing

​Brownstein, Z.*, Abu-Rayyan, A.*, Karfunkel-Doron, D., Sirigu, S., Davidov, B., Shohat, M., Frydman, M., Houdusse, A., Kanaan, M., and Avraham, K.B.

Time-dependent gene expression analysis of the developing superior olivary complex

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.

Cytoplasmic mislocalization of POU3F4 due to novel mutations leads to deafness in humans and mice

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.

The LINC complex is essential for hearing

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.

Egr2::Cre mediated conditional ablation of Dicer disrupts histogenesis of mammalian central auditory nuclei

Rosengauer, E., Hartwich, H., Hartmann, A.M., Rudnicki, A., Satheesh, S.V., Avraham, K.B. and Nothwang, H.G.

Targeted genomic capture and massively parallel sequencing to identify genes for hereditary hearing loss in Middle Eastern families

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

Integration of transcriptomics, proteomics, and microRNA analyses reveals novel microRNA regulation of targets in the mammalian inner ear

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.

SPIKE: a database of highly curated human signaling pathways

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.

Functional characterization of pendrin mutations found in the Israeli and Palestinian populations

Dossena, S., Nofziger, C., Brownstein, Z., Kanaan, M., Avraham, K.B. and Paulmichl, P.

MuD: an interactive web server for the prediction of non-neutral substitutions using protein structural data

Wainreb, G., Ashkenazy, H., Bromberg, Y., Starovolsky-Shitrit, A., Haliloglu, T., Ruppin, E., Avraham, K.B., Rost, B. and Ben-Tal, N.

A mouse model for human hearing loss DFNB30 due to loss of function of myosin IIIA

Walsh, V.L.*, Raviv, D.*, Dror, A.A., Shahin, H., Walsh, T., Kanaan, M.N., Avraham, K.B. and King, M.-C.

The inner ear phenotype of Volchok (Vlk): an ENU-induced mouse model for CHARGE syndrome

Lenz, D.R., Dror, A.A., Wekselman, G. Fuchs, H., Hrabé de Angelis, M. and Avraham, K.B.

Anti-apoptotic factor z-val-ala-asp-fluoromethylketone promotes the survival of cochlear hair cells in a mouse model for human deafness

Atar, O. and Avraham, K.B.

Calcium oxalate stone formation in the inner ear as a result of an Slc26a4 mutation

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.

Genomic duplication and over-expression of TJP2/ZO-2 leads to altered expression of apoptosis genes in progressive non-syndromic hearing loss DFNA51

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.

Whole exome sequencing and homozygosity mapping identify mutation in the cell polarity protein GPSM2 as the cause of non-syndromic hearing loss DFNB82

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.

Nonsense mutation of the stereociliar membrane protein gene PTPRQ in human hearing loss DFNB84

Shahin, H., Rahil, M., Abu Rayan, A., Avraham, K.B., King, M.-C., Kanaan, M. and Walsh, T.

Progressive vestibular mutation leads to elevated anxiety

Shefer, S., Gordon, C.R., Avraham, K.B. and Mintz, M.

Five novel loci for inherited hearing loss mapped by SNP-based homozygosity profiles in Palestinian families

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.

MicroRNAs are essential for development and function of inner ear hair cells in vertebrates

Friedman LM, Dror AA, Mor E, Tenne T, Toren G, Satoh T, Biesemeier DJ, Shomron N, Fekete DM, Hornstein E, Avraham KB

Mice with vestibular deficiency display hyperactivity, disorientation, and signs of anxiety

Avni, R., Elkan, T., Dror, A.A., Shefer, S., Eilam, D., Avraham, K.B. and Mintz, M.

CLRN1 is nonessential in the mouse retina but is required for cochlear hair cell development

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.

A Myo6 mutation destroys coordination between the myosin heads, revealing new functions of myosin VI in the stereocilia of mammalian inner ear hair cells

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.

A novel PDS deafness mutation is retained in the endoplasmic reticulum

Brownstein, Z.N., Dror, A.A., Gilony, D., Migirov, L., Hirschberg, K. and Avraham, K.B.

Lhx3, a LIM domain transcription factor, is regulated by Pou4f3 in the auditory, but not in the vestibular system

Hertzano, R., Dror, A.A., Montcouquiol, M., Ahmed, Z., Ellsworth, B., Camper, S., Friedman, T.B., Kelley, M.W. and Avraham, K.B.

The structural context of disease-causing mutations in gap junctions

Fleishman, S.J.*, Sabag, A.D.*, Ophir, E., Avraham, K.B. and Ben-Tal, N.

Chromosomal mapping and phenotypic characterization of hereditary otosclerosis linked to the OTSC4 locus

Brownstein, Z., Goldfarb, A., Levi, H., Frydman, M. and Avraham, K.B.

Genomic analysis of a heterogeneous Mendelian phenotype: multiple novel alleles for inherited hearing loss in the Palestinian population

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.

Connexin-associated deafness and speech perception outcome of cochlear implantation

Taitelbaum-Swead, R., Brownstein, Z., Muchnik, C., Megirov, L., Kishon-Rabin, L., Kronenberg, J., Hildesheimer, M. and Avraham, K.B.

Gfi1 and Gfi1b act equivalently in hematopoiesis but have distinct, nonoverlapping functions in inner ear development

Fiolka, K., Hertzano, R., Vassen, L., Zeng, H., Hermesh, O., Avraham, K.B., Dührsen, U. and Möröy, T.

Mutations in a novel isoform of TRIOBP that encodes a filamentous-actin binding protein are responsible for DFNB28 recessive nonsyndromic hearing loss

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.

GJB2 mutations and degree of hearing loss: a multi-center study

​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.

A novel deletion involving the connexin-30 gene, del(GJB6-D13S1854), found in trans with mutations in the GJB2 gene (connexin-26) in subjects with DFNB1 non-syndromic hearing impairment

del Castillo, F.J., Rodrıguez-Ballesteros, M., lvarez, M., Hutchin, T., Leonardi, E., de Oliveira, C.A., Azaiez, H., Brownstein, Z., Avenarius, M.R., Marlin, S., Pandya, A., Shahin, H., Siemering, K.R., Weil, D., Wuyts, W., Aguirre, L.A., Martın, Moreno-Pelayo, M.A., Villamar, M., Avraham, K.B., Dahl, H.-H.M., Kanaan, M., Nance, W.E., Petit, C., Smith, R.J.H., Van Camp, G., Sartorato, E.L., Murgia, A., Moreno, F. and del Castillo, I.

Brn-3c (POU4F3) regulates BDNF and NT-3 promoter activity

Clough, R.L., Sud, R., Davis-Silberman, N., Hertzano, R., Avraham, K.B., Holley, M. and Dawson, S.J.

A Myo7a mutation co-segregates with stereocilia defects and low frequency hearing impairment

Rhodes, C.R.*, Hertzano, R.*, Fuchs, H., Bell, R.E., Hrabé de Angelis, M., Steel, K.P. and Avraham, K.B.

Transcription profiling of inner ears from Pou4f3ddl/ddl identifies Gfi1 as a target of the Pou4f3 deafness gene

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.

An ENU-induced mutation in AP-2a leads to middle ear and ocular defects in Doarad mice

Ahituv, N.*, Erven, A.*, Fuchs, H., Guy, K., Ashery-Padan, R., Williams, T., Hrabé de Angelis, M., Avraham, K.B. and Steel, K.P.

Myosin VI is required for structural integrity of the apical surface of sensory hair cells in zebrafish

Seiler, C.*, Ben-David, O.*, Sidi, S., Hendrich, O., Rusch, A., Burnside, B., Avraham, K.B. and Nicolson, T.

The R245X mutation of PCDH15 in Ashkenazi Jewish children diagnosed with nonsyndromic hearing loss foreshadows retinitis pigmentosa

​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.

The DFNA15 deafness mutation affects POU4F3 protein stability, localization and transcriptional activity

Weiss, S., Gottfried, I., Mayrose, I., Khare, S.L., Xiang, M., Dawson, S.J. and Avraham, K.B.

Prevalence and evolutionary origins of the del(GJB6-D13S1830) mutation in the DFNB1 locus in hearing impaired subjects: a multicentric study

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.

Myo15 gene function is independent of Myo6, Myo7a, and pirouette genes in cochlear stereocilia

​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.

Genetic homogeneity and phenotypic variability among Ashkenazi Jews with Usher syndrome type III

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.

Multiple mutations of MYO1A, a cochlear expressed gene, in sensorineural hearing loss

Donaudy, F., Ferrara, A., Esposito, L., Hertzano, R., Ben-David, O., Bell, R.E., Melchionda, S., Zelante, L., Avraham, K.B., Gasparini, P.

Contribution of connexin 26 (GJB2) mutations and founder effect to non-syndromic hearing loss in India

RamShankar, M., Girirajan, S., Dagan, O., Ravi Shankar, H.M., Jalvi, R., Rangasayee, R., Avraham, K.B., Anand, A.

A mutation of PCDH15 among Ashkenazi Jews with the Type 1 Usher syndrome

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.

USH3A transcripts encode clarin-1, a four-transmembrane-domain protein with a possible role in sensory synapses

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.

From flies' eyes to our ears: Mutations in a human class III myosin cause progressive nonsyndromic hearing loss DFNB30

Walsh, T., Walsh, V., Vreudge, S., Hertzano, R., Shahin, H., Haika, S., Lee, M.K., Kanaan, M., King, M.-C. and Avraham, K.B.

A mutation in GJB3 is associated with recessive erythrokeratodermia variabilis (EKV) and leads to defective trafficking of the connexin 31 protein

Gottfried, I., Landau, M., Glaser, F., Di, W.-L., Ophir, J., Mevorah, B., Ben-Tal, N., Kelsell, D.P. and Avraham, K.B.

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

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.

Beethoven, a mouse model for dominant, progressive hearing loss DFNA36

Vreugde, S.*, Erven, A.*, Kros, C.J., Marcotti, W., Fuchs, H., Kurima, K., Wilcox, E.R., Friedman, T.B., Griffith, A.J., Balling, R., Hrabé de Angelis, M., Avraham, K.B. and Steel, K.P.

Genetics of congenital deafness in the Palestinian population: Multiple connexin 26 alleles with shared origins in the Middle East

Shahin, H., Walsh, T., Sobe, T., Lynch, E., King, M.-C., Avraham, K.B. and Kanaan, M.

MYO6, the human homologue of the gene responsible for deafness in Snell’s waltzer mice, is mutated in autosomal dominant nonsyndromic hearing loss

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.

Connexin 31 (GJB3) amino acid deletion in peripheral neuropathy

​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.

The Notch ligand Jagged1 is required for inner ear sensory development

Kiernan, A.E.*, Ahituv, N.*, Fuchs, H., Balling, R., Avraham, K.B., Steel, K.P. and Hrabé de Angelis, M.

Genomic structure of the human unconventional myosin VI gene

Ahituv, N., Sobe, T., Robertson, N.G., Morton, C.C., Taggart, R.T. and Avraham, K.B.

Genome-wide, large-scale production of mutant mice by ENU mutagenesis

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.

Clinical characterization of genetic hearing loss caused by a mutation in the POU4F3 transcription factor

Frydman, M.*, Vreugde, S.*, Nageris, B.I., Weiss, S., Vahava, O. and Avraham, K.B.

The prevalence and expression of inherited connexin 26 mutations associated with nonsyndromic hearing loss in the Israeli population

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.

Tailchaser (Tlc): a new mouse mutation affecting hair cell survival and hair bundle morphogenesis

Kiernan, A.E., Zalzman, M., Fuchs, H., Hrabe de Angelis, M., Balling, R., Steel, K.P. and Avraham K.B.

Role of myosin VI in the differentiation of cochlear hair cells

Self, T., Sobe, T., Copeland, N.G., Jenkins, N.A., Avraham, K.B. and Steel, K.P.

High frequency of the deafness-associated 167delT mutation in the connexin 26 (GJB2) gene in Israeli Ashkenazim

Sobe, T., Erlich, P., Berry, A., Korostichevsky, M., Vreugde, S., Shohat, M., Avraham, K.B. and Bonné-Tamir, B.

Targeted disruption of the mouse caspase-8 gene ablates cell-death induction by the TNF receptors, Fas/Apo1, and DR3 and is lethal prenatally

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.

Mutation in transcription factor POU4F3 associated with inherited progressive hearing loss in humans

Vahava, O.*, Morell, R.,* Lynch, E.D.*, Weiss, S., Kagan, M.E., Ahituv, N., Morrow, J.E., Lee, M.K., Skvorak, A.B., Morton, C.C., Blumenfeld, A., Frydman, M., Friedman, T.B., King, M.-C. and Avraham, K.B.

Characterization of unconventional MYO6, the human homologue of the gene responsible for deafness in Snell's waltzer mice

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.

A scanning electron microscope study of the development of the mouse mutant Snell's waltzer

Self, T.J., Avraham, K.B. and Steel, K.P.

Mapping of unconventional myosins in mouse and man

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.

The molecular characterization and localization of the mouse Thymopoietin (Tmpo)/lamina-associated polypeptide 2 (LAP2) gene and its alternatively spliced products

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.

Identification and chromosomal localization of Atm, the mouse homolog of the ataxia-telangiectasia gene

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.

The mouse Snell’s waltzer deafness gene encodes an unconventional myosin required for the structural integrity of inner ear hair cells

Avraham, K.B., Hasson, T., Steel, K.P., Kingsley, D.M., Russell, L.B., Mooseker, M.S., Copeland, N.G. and Jenkins, N.A.

Chromosomal organization and transcriptional regulation of human GEM and localization of the human and mouse GEM loci encoding an inducilble ras-like protein

Santoro, T., Maguire, J., McBride, O.W., Avraham, K.B., Copeland, N.G., Jenkins, N.A. and Kelly, K.

cDNA cloning, tissue distribution, and chromosomal localization of Ocp2, a gene encoding a putative transcription-associated factor predominantly expressed in the auditory organs

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.

Mapping of the murine homolog of the human runt domain gene, AML2, to the distal region of mouse chromosome 4

Avraham, K.B., Levanon, D., Negreanu, V., Bernstein, Y., Groner, Y., Copeland, N.G. and Jenkins, N.A.

Murine chromosomal location of eight members of the hepatocyte nuclear factor 3/fork head winged helix family of transcription factors

Avraham, K.B., Fletcher, C., Overdier, D.G., Clevidence, D.E., Lai, E., Costa, R.H., Jenkins, N.A. and Copeland, N.G.

Mapping of murine fibroblast growth factor receptors refines regions of homology between mouse and human chromosomes

Avraham, K.B., Givol, D., Avivi, A., Yayon, A., Copeland, N.G. and Jenkins, N.A.

Molecular diversity of the SCG10/stathmin gene family in the mouse

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.

Murine chromosomal location of four class III POU transcription factors

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.

Expression of manganese superoxide dismutase is not altered in transgenic mice with elevated level of copper-zinc superoxide dismutase

White, C.W., Nguyen, D. H., Suzuki, K., Taniguchi, N., Rusakow, L.S., Avraham, K.B. and Groner, Y.

Use of transgenic animals to study disease models: Hyperoxic lung injury and ischemic acute renal failure in "high SOD" mice

Shanley, P.F., White, C.W., Avraham, K.B., Groner, Y. and Burke, T.J.

Murine chromosomal location of four hepatocyte-enriched transcription factors: HNF-3a, HNF-3b, HNF-3g and HNF-4

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.

Transgenic mice with expression of elevated levels of copper-zinc superoxide dismutase in the lungs are resistant to pulmonary oxygen toxicity

White, C.W., Avraham, K.B., Shanley, P. and Groner, Y.

Down’s syndrome:  Morphological remodelling and increased complexity in the neuromuscular junction of transgenic CuZn-superoxide dismutase mice

Avraham, K.B., Sugarman, H., Rotshenker, S. and Groner, Y.

Diminished serotonin uptake in platelets of transgenic mice with increased Cu/Zn-superoxide dismutase activity

Schickler, M., Knobler, H., Avraham, K.B., Elroy-Stein, O. and Groner, Y.

Premature aging changes in neuromuscular junctions of transgenic mice with an extra human CuZnSOD gene: A model for tongue pathology in Down's syndrome

Yarom, R., Sapoznikov, D., Havivi, Y., Avraham, K.B., Schickler, M. and Groner, Y.

Down's syndrome: Abnormal neuromuscular junction in tongue of transgenic mice with elevated levels of human Cu/Zn-superoxide dismutase

Avraham, K.B., Schickler, M., Sapoznikov, D., Yarom, R. and Groner, Y.

Transgenic mice with increased Cu/Zn-superoxide dismutase activity: Animal model of dosage effects in Down syndrome

Epstein, C.J., Avraham, K.B., Lovett, M., Smith, S., Elroy-Stein, O., Rotman, G., Bry, C. and Groner, Y.