Horn HF, Brownstein Z, Lenz DR, Shivatzki S, Dror AA, Dagan-Rosenfeld O, Friedman LM, Roux KJ, Kozlov S, Jeang KT, Frydman M, Burke B, Stewart CL, Avraham KB. (2013) The LINC complex is essential for hearing. J Clin Invest. 2013;123(2):740–750. [PDF]
Rosengauer E, Hartwich H, Hartmann AM, Rudnicki A, Satheesh SV, Avraham KB, Nothwang HG. (2012) Egr2::cre mediated conditional ablation of dicer disrupts histogenesis of Mammalian central auditory nuclei. PLoS One. 2012;7(11):e49503. [PDF]
Brownstein Z, Friedman LM, Shahin H, Oron-Karni V, Kol N, Rayyan AA, Parzefall T, Lev D, Shalev S, Frydman M, Davidov B, Shohat M, Rahile M, Lieberman S, Levy-Lahad E, Lee MK, Shomron N, King MC, 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. [PDF]
Elkan-Miller T, Ulitsky I, Hertzano R, Rudnicki A, Dror AA, Lenz DR, Elkon R, Irmler M, Beckers J, Shamir R, Avraham KB (2011): Integration of Transcriptomics, Proteomics, and MicroRNA Analyses Reveals Novel MicroRNA Regulation of Targets in the Mammalian Inner Ear.PLoS One, 6(4):e18195. [PDF]
Paz A, Brownstein Z, Ber Y, Bialik S, David E, Sagir D, Ulitsky I, Elkon R, Kimchi A, Avraham KB, Shiloh Y, Shamir R (2011) SPIKE: a database of highly curated human signaling pathways. Nucleic Acids Res 39:D793-799. [PDF]
Walsh VL, Raviv D, Dror AA, Shahin H, Walsh T, Kanaan MN, Avraham KB, King MC (2011) A mouse model for human hearing loss DFNB30 due to loss of function of myosin IIIA. Mamm Genome 22: 170-177. [PDF]
Shahin H, Rahil M, Abu Rayan A, Avraham KB, King MC, Kanaan M, Walsh T: Nonsense mutation of the stereociliar membrane protein genePTPRQ in human hearing loss DFNB84. J Med Genet 2010, 47(9):643-645. [PDF]
Ozcelik T, Kanaan M, Avraham KB, Yannoukakos D, Megarbane A, Tadmouri GO, Middleton L, Romeo G, King MC, Levy-Lahad E:Collaborative genomics for human health and cooperation in the Mediterranean region. Nat Genet 2010, 42(8):641-645. [PDF]
Dror AA, Politi Y, Shahin H, Lenz DR, Dossena S, Nofziger C, Fuchs H, Hrabe de Angelis M, Paulmichl M, Weiner S, Avraham KB: Calcium oxalate stone formation in the inner ear as a result of an Slc26a4 mutation. J Biol Chem 2010, 285(28):21724-21735. [PDF]
Atar O, Avraham KB: Anti-apoptotic factor z-Val-Ala-Asp-fluoromethylketone promotes the survival of cochlear hair cells in a mouse model for human deafness. Neuroscience 2010, 168(3):851-857. [PDF]
Lenz DR, Dror AA, Wekselman G, Fuchs H, Hrabe de Angelis M, Avraham KB: The inner ear phenotype of Volchok (Vlk): An ENU-induced mousemodel for CHARGE syndrome. Audiological Medicine 2010. [PDF]
Walsh T, Shahin H, Elkan-Miller T, Lee MK, Thornton AM, Roeb W, Abu Rayyan A, Loulus S, Avraham KB, King MC, Kanaan M:Whole exome sequencing and homozygosity mapping identify mutation in the cell polarity protein GPSM2 as the cause of nonsyndromic hearing loss DFNB82. Am J Hum Genet 2010, 87(1):90-94. [PDF]
Shahin H, Walsh T, Rayyan AA, Lee MK, Higgins J, Dickel D, Lewis K, Thompson J, Baker C, Nord AS, Stray S, Gurwitz D, Avraham KB, King MC, Kanaan M: Five novel loci for inherited hearing loss mapped by SNP-based homozygosity profiles in Palestinian families. Eur J Hum Genet 2010, 18(4):407-413. [PDF]
Wainreb G, Ashkenazy H, Bromberg Y, Starovolsky-Shitrit A, Haliloglu T, Ruppin E, Avraham KB, Rost B, Ben-Tal N: MuD: an interactive web server for the prediction of non-neutral substitutions using protein structural data. Nucleic Acids Res 2010, 38 Suppl:W523-528. [PDF]
Shefer S, Gordon CR, Avraham KB, Mintz M: Progressive vestibular mutation leads to elevated anxiety. Brain Res 2010, 1317:157-164. [PDF]
Walsh T, Pierce SB, Lenz DR, Brownstein Z, Dagan-Rosenfeld O, Shahin H, Roeb W, McCarthy S, Nord AS, Gordon CR, Ben-Neriah Z, Sebat J, Kanaan M, Lee MK, Frydman M, King MC, Avraham KB: Genomic duplication and overexpression of TJP2/ZO-2 leads to altered expression of apoptosis genes in progressive nonsyndromic hearing loss DFNA51. Am J Hum Genet 2010, 87(1):101-109. [PDF]
Friedman LM, Dror AA, Mor E, Tenne T, Toren G, Satoh T, Biesemeier DJ, Shomron N, Fekete DM, Hornstein E, Avraham KB: MicroRNAs are essential for development and function of inner ear hair cells in vertebrates. Proc Natl Acad Sci U S A 2009, 106(19):7915-7920. [PDF]
Avraham KB: Noise stresses the junctions to deaf. EMBO Mol Med2009, 1(2):85-87. [PDF]
Geller SF, Guerin KI, Visel M, Pham A, Lee ES, Dror AA, Avraham KB, Hayashi T, Ray CA, Reh TA, Bermingham-McDonogh O, Triffo WJ, Bao S, Isosomppi J, Vastinsalo H, Sankila EM, Flannery JG: CLRN1 is nonessential in the mouse retina but is required for cochlear hair cell development. PLoS Genet 2009, 5(8):e1000607. [PDF]
Avni R, Elkan T, Dror AA, Shefer S, Eilam D, Avraham KB, Mintz M: Mice with vestibular deficiency display hyperactivity, disorientation, and signs of anxiety. Behav Brain Res 2009, 202(2):210-217. [PDF]
Hertzano R, Shalit E, Rzadzinska AK, Dror AA, Song L, Ron U, Tan JT, Shitrit AS, Fuchs H, Hasson T, Ben-Tal N, Sweeney HL, de Angelis MH, Steel KP, Avraham KB: 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 2008, 4(10):e1000207. [PDF]
Brownstein ZN, Dror AA, Gilony D, Migirov L, Hirschberg K, Avraham KB: A novel SLC26A4 (PDS) deafness mutation retained in the endoplasmic reticulum. Arch Otolaryngol Head Neck Surg 2008, 134(4):403-407. [PDF]
Hertzano R, Dror AA, Montcouquiol M, Ahmed ZM, Ellsworth B, Camper S, Friedman TB, Kelley MW, Avraham KB: Lhx3, a LIM domain transcription factor, is regulated by Pou4f3 in the auditory but not in the vestibular system. Eur J Neurosci 2007, 25(4):999-1005. [PDF]
Brownstein Z, Goldfarb A, Levi H, Frydman M, Avraham KB: Chromosomal mapping and phenotypic characterization of hereditary otosclerosis linked to the OTSC4 locus. Arch Otolaryngol Head Neck Surg 2006, 132(4):416-424. [PDF]
Shahin H, Walsh T, Sobe T, Abu Sa’ed J, Abu Rayan A, Lynch ED, Lee MK, Avraham KB, King MC, Kanaan M: 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 2006, 78(1):144-152. [PDF]
Taitelbaum-Swead R, Brownstein Z, Muchnik C, Kishon-Rabin L, Kronenberg J, Megirov L, Frydman M, Hildesheimer M, Avraham KB:Connexin-associated deafness and speech perception outcome of cochlear implantation. Arch Otolaryngol Head Neck Surg 2006, 132(5):495-500. [PDF]
Walsh T, Abu Rayan A, Abu Sa’ed J, Shahin H, Shepshelovich J, Lee MK, Hirschberg K, Tekin M, Salhab W, Avraham KB, King MC, Kanaan M:Genomic analysis of a heterogeneous Mendelian phenotype: multiple novel alleles for inherited hearing loss in the Palestinian population. Hum Genomics 2006, 2(4):203-211. [PDF]
Fiolka K, Hertzano R, Vassen L, Zeng H, Hermesh O, Avraham KB, Duhrsen U, Moroy T: Gfi1 and Gfi1b act equivalently in haematopoiesis, but have distinct, non-overlapping functions in inner ear development. EMBO Rep 2006, 7(3):326-333. [PDF]
Fleishman SJ, Sabag AD, Ophir E, Avraham KB, Ben-Tal N: The structural context of disease-causing mutations in gap junctions. J Biol Chem 2006, 281(39):28958-28963. [PDF]
Snoeckx RL, Huygen PL, 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 AR, Nekahm-Heis D, Seeman P, Bendova O, Kenna MA, Frangulov A, Rehm HL, Tekin M, Incesulu A, Dahl HH, du Sart D, Jenkins L, Lucas D, Bitner-Glindzicz M, Avraham KB, Brownstein Z, del Castillo I, Moreno F, Blin N, Pfister M, Sziklai I, Toth T, Kelley PM, Cohn ES, Van Maldergem L, Hilbert P, Roux AF, Mondain M, Hoefsloot LH, Cremers CW, Lopponen T, Lopponen 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 CJ, Smith RJ, Van Camp G: GJB2 mutations and degree of hearing loss: a multicenter study.Am J Hum Genet 2005, 77(6):945-957. [PDF]
Skinner H, Abdeen Z, Abdeen H, Aber P, Al-Masri M, Attias J, Avraham KB, Carmi R, Chalin C, El Nasser Z, Hijazi M, Jebara RO, Kanaan M, Pratt H, Raad F, Roth Y, Williams AP, Noyek A: Promoting Arab and Israeli cooperation: peacebuilding through health initiatives. Lancet 2005, 365(9466):1274-1277. [PDF]
Del Castillo FJ, Rodriguez-Ballesteros M, Alvarez A, Hutchin T, Leonardi E, de Oliveira CA, Azaiez H, Brownstein Z, Avenarius MR, Marlin S, Pandya A, Shahin H, Siemering KR, Weil D, Wuyts W, Aguirre LA, Martin Y, Moreno-Pelayo MA, Villamar M, Avraham KB, Dahl HH, Kanaan M, Nance WE, Petit C, Smith RJ, Van Camp G, Sartorato EL, Murgia A, Moreno F, del Castillo I: 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. J Med Genet 2005, 42(7):588-594. [PDF]
Seiler C, Ben-David O, Sidi S, Hendrich O, Rusch A, Burnside B, Avraham KB, Nicolson T: Myosin VI is required for structural integrity of the apical surface of sensory hair cells in zebrafish. Dev Biol 2004, 272(2):328-338. [PDF]
Rhodes CR, Hertzano R, Fuchs H, Bell RE, de Angelis MH, Steel KP, Avraham KB: A Myo7a mutation cosegregates with stereocilia defects and low-frequency hearing impairment. Mamm Genome2004, 15(9):686-697. [PDF]
Hertzano R, Montcouquiol M, Rashi-Elkeles S, Elkon R, Yucel R, Frankel WN, Rechavi G, Moroy T, Friedman TB, Kelley MW, Avraham KB:Transcription profiling of inner ears from Pou4f3(ddl/ddl) identifies Gfi1 as a target of the Pou4f3 deafness gene. Hum Mol Genet 2004, 13(18):2143-2153. [PDF]
Clough RL, Sud R, Davis-Silberman N, Hertzano R, Avraham KB, Holley M, Dawson SJ: Brn-3c (POU4F3) regulates BDNF and NT-3 promoter activity. Biochem Biophys Res Commun 2004, 324(1):372-381. [PDF]
Brownstein Z, Ben-Yosef T, Dagan O, Frydman M, Abeliovich D, Sagi M, Abraham FA, Taitelbaum-Swead R, Shohat M, Hildesheimer M, Friedman TB, Avraham KB: The R245X mutation of PCDH15 in Ashkenazi Jewish children diagnosed with nonsyndromic hearing loss foreshadows retinitis pigmentosa. Pediatr Res 2004, 55(6):995-1000. [PDF]
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, 15(6):424-432. [PDF]
Karolyi IJ, Probst FJ, Beyer L, Odeh H, Dootz G, Cha KB, Martin DM, Avraham KB, Kohrman D, Dolan DF, Raphael Y, Camper SA: Myo15 function is distinct from Myo6, Myo7a and pirouette genes in development of cochlear stereocilia. Hum Mol Genet 2003, 12(21):2797-2805. [PDF]
Ness SL, Ben-Yosef T, Bar-Lev A, Madeo AC, Brewer CC, Avraham KB, Kornreich R, Desnick RJ, Willner JP, Friedman TB, Griffith AJ: Genetic homogeneity and phenotypic variability among Ashkenazi Jews with Usher syndrome type III. J Med Genet 2003, 40(10):767-772. [PDF]
RamShankar M, Girirajan S, Dagan O, Ravi Shankar HM, Jalvi R, Rangasayee R, Avraham KB, Anand A: Contribution of connexin26 (GJB2) mutations and founder effect to non-syndromic hearing loss in India. J Med Genet 2003, 40(5):e68. [PDF]
Weiss S, Gottfried I, Mayrose I, Khare SL, Xiang M, Dawson SJ, Avraham KB: The DFNA15 deafness mutation affects POU4F3 protein stability, localization, and transcriptional activity. Mol Cell Biol 2003, 23(22):7957-7964. [PDF]
Ben-Yosef T, Ness SL, Madeo AC, Bar-Lev A, Wolfman JH, Ahmed ZM, Desnick RJ, Willner JP, Avraham KB, Ostrer H, Oddoux C, Griffith AJ, Friedman TB: A mutation of PCDH15 among Ashkenazi Jews with the type 1 Usher syndrome. N Engl J Med 2003, 348(17):1664-1670. [PDF]
Del Castillo I, Moreno-Pelayo MA, Del Castillo FJ, Brownstein Z, Marlin S, Adina Q, Cockburn DJ, Pandya A, Siemering KR, Chamberlin GP, Ballana E, Wuyts W, Maciel-Guerra AT, Alvarez A, Villamar M, Shohat M, Abeliovich D, Dahl HH, Estivill X, Gasparini P, Hutchin T, Nance WE, Sartorato EL, Smith RJ, Van Camp G, Avraham KB, Petit C, Moreno F: Prevalence and evolutionary origins of the del(GJB6-D13S1830) mutation in the DFNB1 locus in hearing-impaired subjects: a multicenter study. Am J Hum Genet 2003, 73(6):1452-1458. [PDF]
Donaudy F, Ferrara A, Esposito L, Hertzano R, Ben-David O, Bell RE, Melchionda S, Zelante L, Avraham KB, Gasparini P: Multiple mutations of MYO1A, a cochlear-expressed gene, in sensorineural hearing loss. Am J Hum Genet 2003, 72(6):1571-1577. [PDF]
Walsh T, Walsh V, Vreugde S, Hertzano R, Shahin H, Haika S, Lee MK, Kanaan M, King MC, Avraham KB: From flies’ eyes to our ears: mutations in a human class III myosin cause progressive nonsyndromic hearing loss DFNB30. Proc Natl Acad Sci U S A 2002, 99(11):7518-7523. [PDF]
Adato A, Vreugde S, Joensuu T, Avidan N, Hamalainen R, Belenkiy O, Olender T, Bonne-Tamir B, Ben-Asher E, Espinos C, Millan JM, Lehesjoki AE, Flannery JG, Avraham KB, Pietrokovski S, Sankila EM, Beckmann JS, Lancet D: USH3A transcripts encode clarin-1, a four-transmembrane-domain protein with a possible role in sensory synapses. Eur J Hum Genet2002, 10(6):339-350. [PDF]
Zwaenepoel I, Mustapha M, Leibovici M, Verpy E, Goodyear R, Liu XZ, Nouaille S, Nance WE, Kanaan M, Avraham KB, Tekaia F, Loiselet J, Lathrop M, Richardson G, Petit C: 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 U S A 2002, 99(9):6240-6245. [PDF]
Vreugde S, Erven A, Kros CJ, Marcotti W, Fuchs H, Kurima K, Wilcox ER, Friedman TB, Griffith AJ, Balling R, Hrabe De Angelis M, Avraham KB, Steel KP: Beethoven, a mouse model for dominant, progressive hearing loss DFNA36. Nat Genet 2002, 30(3):257-258. [PDF]
Shahin H, Walsh T, Sobe T, Lynch E, King MC, Avraham KB, Kanaan M:Genetics of congenital deafness in the Palestinian population: multiple connexin 26 alleles with shared origins in the Middle East.Hum Genet 2002, 110(3):284-289. [PDF]
Gottfried I, Landau M, Glaser F, Di WL, Ophir J, Mevorah B, Ben-Tal N, Kelsell DP, Avraham KB: A mutation in GJB3 is associated with recessive erythrokeratodermia variabilis (EKV) and leads to defective trafficking of the connexin 31 protein. Hum Mol Genet2002, 11(11):1311-1316.
Gottfried I, Huygen PL, Avraham KB: The clinical presentation of DFNA15/POU4F3. Adv Otorhinolaryngol 2002, 61:92-97. [PDF]
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, 69(3):635-640. [PDF]
Lopez-Bigas N, Olive M, Rabionet R, Ben-David O, Martinez-Matos JA, Bravo O, Banchs I, Volpini V, Gasparini P, Avraham KB, Ferrer I, Arbones ML, Estivill X: Connexin 31 (GJB3) is expressed in the peripheral and auditory nerves and causes neuropathy and hearing impairment.Hum Mol Genet 2001, 10(9):947-952. [PDF]
Kiernan AE, Ahituv N, Fuchs H, Balling R, Avraham KB, Steel KP, Hrabe de Angelis M: The Notch ligand Jagged1 is required for inner ear sensory development. Proc Natl Acad Sci U S A 2001, 98(7):3873-3878. [PDF]
Sobe T, Vreugde S, Shahin H, Berlin M, Davis N, Kanaan M, Yaron Y, Orr-Urtreger A, Frydman M, Shohat M, Avraham KB: The prevalence and expression of inherited connexin 26 mutations associated with nonsyndromic hearing loss in the Israeli population. Hum Genet2000, 106(1):50-57. [PDF]
Frydman M, Vreugde S, Nageris BI, Weiss S, Vahava O, Avraham KB:Clinical characterization of genetic hearing loss caused by a mutation in the POU4F3 transcription factor. Arch Otolaryngol Head Neck Surg 2000, 126(5):633-637. [PDF]
Ahituv N, Sobe T, Robertson NG, Morton CC, Taggart RT, Avraham KB:Genomic structure of the human unconventional myosin VI gene.Gene 2000, 261(2):269-275. [PDF]
Sobe T, Erlich P, Berry A, Korostichevsky M, Vreugde S, Avraham KB, Bonne-Tamir B, Shohat M: High frequency of the deafness-associated 167delT mutation in the connexin 26 (GJB2) gene in Israeli Ashkenazim. Am J Med Genet 1999, 86(5):499-500. [PDF]
Kiernan AE, Zalzman M, Fuchs H, Hrabe de Angelis M, Balling R, Steel KP, Avraham KB: Tailchaser (Tlc): a new mouse mutation affecting hair bundle differentiation and hair cell survival. J Neurocytol 1999, 28(10-11):969-985. [PDF]
Self T, Sobe T, Copeland NG, Jenkins NA, Avraham KB, Steel KP: Role of myosin VI in the differentiation of cochlear hair cells. Dev Biol 1999, 214(2):331-341. [PDF]
Varfolomeev EE, Schuchmann M, Luria V, Chiannilkulchai N, Beckmann JS, Mett IL, Rebrikov D, Brodianski VM, Kemper OC, Kollet O, Lapidot T, Soffer D, Sobe T, Avraham KB, Goncharov T, Holtmann H, Lonai P, Wallach D: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 1998, 9(2):267-276. [PDF]
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, 279(5358):1950-1954. [PDF]
Avraham KB, Hasson T, Sobe T, Balsara B, Testa JR, Skvorak AB, Morton CC, Copeland NG, Jenkins NA: Characterization of unconventional MYO6, the human homologue of the gene responsible for deafness in Snell’s waltzer mice. Hum Mol Genet 1997, 6(8):1225-1231. [PDF]
