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Ruberto, F., Balzano, S., Namburi, P., Kimchi, A., Pescini-Gobert, R., Obolensky, A., Banin, E., Ben Yosef, T., Sharon, D., Rivolta, C. Heterozygous deletions of noncoding parts of the PRPF31 gene cause retinitis pigmentosa via reduced gene expression. Mol. Vis. 27:107-116 (2021).
Ben-Yosef, T., Batsir, N.A., Ali Nasser, T., Ehrenberg, M. Retinal dystrophy as part of TTC21B-associated ciliopathy. Ophthalmic Genet. 42(3):329-333 (2021) DOI:10.1080/13816810.2021.1888131.
Sangermano, R., Deitch, I., Peter, V.G., Ba-Abbad, R., Place, EM, Wagner, N., Fulton, A.B., Coutinho-Santos, L., Rosin, B., Dunet, V., Al Talbishi, A., Banin, E., Sousa, A.B., Neves, M., Larson, A., Quinodoz, M., Michaelides, M., Ben-Yosef, T., Pierce, E.A., Rivolta, C., Webster, A., Arno, G., Sharon, D., Huckfeldt, R.M., Bujakowska, K.M. Broadening INPP5E phenotypic spectrum: detection of rare variants in syndromic and non-syndromic IRD. NPJ Genom. Med. 6(1):53 (2021). DOI: 10.1038/s41525-021-00214-8.
Sharon, D.*, Ben-Yosef, T.*, Goldenberg- Cohen, N., Pras, E., Gradstein, L., Soudry, S., Mezer, E., Zur, D., Abbasi, A.H., Zeitz, C., Cremers, F.P.M., Khan, M.I., Levy, J., Rotenstreich, Y., Birk, O., Ehrenberg, M., Leibu, R., Newman, H., Shomron, N., Banin, E., Perlman, I. A nation-wide genetic analysis of inherited retinal diseases in Israel as assessed by the Israeli inherited retinal disease consortium (IIRDC). Hum. Mut. 41(1):140-149 (2020). doi: 10.1002/humu.23903.
Khan, M., Cornelis, S.S., del Pozo-Valero, M., Whelan, L., Runhart, E.H., Mishra, K., Bults, F., AlSwaiti, Y., AlTabishi, A., De Baere, E., Banfi, S., Banin, E., Bauwens, M., Ben-Yosef, T., Boon, C.J.F., van den Born, L.I., Defoort, S., Devos, A., Dockery, A., Dudakova, L., Fakin, A., Farrar, G.J., Ferraz Sallum, J.M., Fujinami, K., Gilissen, C., Glavač, D., Gorin, M.B., Greenberg, J., Hayashi, T., Hettinga, Y., Hoischen, A., Hoyng, C.B., Hufendiek, K., Jägle, H., Kamakari, S., Karali, M., Kellner, U., Klaver, C.C.W., Kousal, B., Lamey, T., MacDonald, I. M., Matynia, A., McLaren, T., Mena, M. D., Meunier, I., Miller, R., Newman, H., Ntozini, B., Oldak, M., Pieterse, M., Podhajcer, O.L., Puech, B., Ramesar, R., Rüther, K., Salameh, M., Vallim Salles, M., Sharon, D., Simonelli, F., Spital, G., Steehouwer, M., Szaflik, J.P., Thompson, J.A., Thuillier, C., Tracewska, A.M., van Zweeden, M., Vincent, A.L., Zanlonghi, X., Liskova, P., Stöhr, H., De Roach, J., Ayuso, C., Roberts, L., Weber, B.H.F., Dhaenens, C-M., Cremers, F.P.M. Resolving the dark matter of ABCA4 for 1,054 Stargardt disease probands through integrated genomics and transcriptomics. Genet. Med. 22: 1235-1246 (2020)
Runhart, E.H., Khan, M., Cornelis, S.S., Roosing, S., Del Pozo-Valero, M., Lamey, T.M., Liskova, P., Roberts, L., Stöhr, H., Klaver, C.C.W., Hoyng, C.B., Cremers, F.P.M., Dhaenens, C-M, ABCA4 Disease Consortium Study Group. Association of sex with frequent and mild ABCA4 alleles in Stargardt disease. JAMA Ophthalmol. 138(10):1035-1042 (2020). DOI: 10.1001/jamaophthalmol.2020.2990
Tatour, Y., Bar-Joseph, H., Shalgi, R., Ben-Yosef, T. Male Sterility and Reduced Female Fertility in SCAPER-Deficient Mice. Hum. Mol. Genet. 29:2240-2249 (2020). DOI: 1093/hmg/ddaa113.
Beryozkin, A., Khateb, S., Idrobo-Robalino, C.A., Khan, M.I., Cremers, F.P.M., Obolensky, A., Hanany, M., Mezer, E., Chowers, I., Newman, H., Ben-Yosef, T., Sharon, D., Banin, E. Unique combination of clinical features in a large cohort of 100 patients with retinitis pigmentosa caused by FAM161A mutations. Sci. Rep. 10(1):15156 (2020). DOI: 10.1038/s41598-020-72028-0.
Remez, L., Cohen, B., Nevet, M.J., Rizel, L., Ben-Yosef, T. TULP1 and TUB are Required for Specific Localization of PRCD to Photoreceptor Outer Segments. Int. J Mol. Sci. 21: 8677 (2020). DOI:10.3390/ijms21228677.
Tatour, Y. and Ben-Yosef, T. Syndromic Inherited Retinal Diseases: Genetic, Clinical and Diagnostic Aspects. Diagnostics (Basel) 10: E779 (2020). DOI: 10.3390/diagnostics10100779.
Allon, G., Mann, I., Remez, L., Sehn, E., Rizel, L., Nevet, M.J., Perlman, I., Wolfrum, U., Ben-Yosef, T. PRCD is concentrated at the base of photoreceptor outer segments and is involved in outer segment disc formation. Hum. Mol. Genet. (2019) doi.org/10.1093/hmg/ddz248.
Ehrenberg,M., Weiss, S., Orenstein, N., Goldenberg-Cohen, N., Ben-Yosef, T. The co-occurrence of rare non-ocular phenotypes in patients with inherited retinal degenerations. Mol. Vis. 25:691-702 (2019).
Weiss, S., Cohen, L., Ben-Yosef, T., Ehrenberg, M., Goldenberg-Cohen, N. Late diagnosis of Alstrom syndrome in a Yemenite-Jewish child. Ophthalmic genet 40(1):7-11 (2019).
Sharon, D., Ben-Yosef, T., Pras, E., Goldenberg- Cohen, N., Gradstein, L., Shomron, N., Birk, O., Ehrenberg, M., Levy, J., Mezer, E., Soudry, S., Rotenstreich, Y., Newman, H., Leibu, R., Banin, E., Perlman, I. The Israeli Inherited Retinal Diseases Consortium (IIRDC)- Clinical-Genetic Mapping and Future Perspectives. Harefua 158:91-95 (2019).
Tatour, Y., Tamaiev, , Shamaly, S., Colombo, R., Bril, E., Rabinowitz, T., Yaakobi, A., Mezer, E., Leibu, R., Tiosano, B., Shomron, N., Chowers, I., Banin, E., Sharon, D., Ben-Yosef, T. A novel intronic mutation of PDE6B is a major cause for autosomal recessive retinitis pigmentosa among Caucasus Jews. Mol. Vis. 25:155-164 (2019).
Khateb S, Kowalewski B, Bedoni N, Damme M, Pollack N, Saada A, Obolensky A, Ben-Yosef T, Gross M, Dierks T, Banin E, Rivolta C, Sharon D. A homozygous founder missense variant in arylsulfatase G abolishes its enzymatic activity causing atypical Usher syndrome in humans. Genet Med doi: 10.1038/gim.2017.227 (2018)
Khalaileh A, Abu-Diab A, Ben-Yosef T, Raas-Rothschild A, Lerer I, Swetti Y, Chowers I, Banin E, Sharon D, Khateb S. The Genetics of Usher Syndrome in the Israeli and Palestinian Populations. Invest. Ophthalmol. Vis. Sci. 59:1095-1104 (2018).
Hanany, M., Allon, G., Kimchi, A., Blumenfeld, A., Newman, H., Pras, E., Wormser, O., Birk, O., Gradstein, L., Banin, E., Ben-Yosef, T., Sharon, D. Carrier Frequency Analysis of Mutations Causing Autosomal Recessive Inherited Retinal Diseases in the Israeli Population. (2018) Eur. J Hum. Genet. 26(8):1159-1166.
Braverman, I., Blumen, S.C., Newman, H., Rizel, L., Khayat, M., Hanna, R., St Guily, J.L., Tiosano, B., Ben-Yosef, T. Oculopharyngeal Muscular Dystrophy and Inherited Retinal Dystrophy in Bukhara Jews due to Linked Mutations in the PABPN1 and NRL Genes. Genet. Test. Mol. Biomarkers 21(7):450-453 (2017).
Tatour, Y., Sanchez-Navarro, I., Chervinsky, E., Hakonarson, H., Gawi, H., Tahsin-Swafiri, S., Leibu, R., Lopez-Molina, M.I., Fernandez-Sanz, G., Ayuso, C., and Tamar Ben-Yosef. Mutations in SCAPER cause autosomal recessive retinitis pigmentosa with intellectual disability. J Med. Genet 54: 698–704 (2017).
Kimchi A, Khateb S, Wen R, Guan Z, Obolensky A, Beryozkin A, Kurtzman S, Blumenfeld A, Pras E, Jacobson SG, Ben-Yosef T, Newman H, Sharon D, Banin E. Nonsyndromic Retinitis Pigmentosa in the Ashkenazi Jewish Population: Genetic and Clinical Aspects. Ophthalmology 125(5): 725-734 (2017).
Khateb, S., Hanany, M., Khalailah, A., Beryozkin, A., Meyer, S., Abu-Diab, A., Abu-Turkey, F., Mizrahi-Meissonnier, L., Liberman, S., Ben-Yosef, T., Banin, E., Sharon, D. Identification of Genomic Deletions Causing Inherited Retinal Degenerations by Coverage Analysis of Whole Exome Sequencing Data. J Med. Genet. 53: 600-607 (2016).
Smith, C.E., Poulter, J.A., Levin, A.V., Capasso, J.E., Price, S., Ben-Yosef, T., Sharony, R., Newman, W.G., Shore, R.C., Brookes, S.J., Mighell, A.J., Inglehearn, C.F. Spectrum of PEX1 and PEX6 variants in Heimler syndrome. Eur J Hum genet 24(11):1565-1571 (2016).
Namburi, P., Ratnapriya, R., Khateb, S., Lazar, C., Kinarty, Y., Obolensky, A., Erdinest, I., Marks-Ohana, D., Inbal, A., Pras, E., Ben-Yosef, T., Newman, H., Gross, M., Swaroop, A., Banin, E., Sharon, D. Bi-allelic truncating mutations in CEP78 encoding centrosomal protein 78 cause cone-rod degeneration with sensorineural hearing loss. Am. J. Hum. Genet. 99: 777-784 (2016).
Newman, H., Blumen, S.C., Braverman, I., Hanna, R., Tiosano, B., Perlman, I., and Ben-Yosef, T. Homozygosity for a Recessive Loss-of-Function Mutation of the NRL Gene is Associated with a Variant of Enhanced S-Cone Syndrome. Invest. Ophthalmol. Vis. Sci. 57(13): 5361-5371 (2016).
Shevach E., Ali M., Mizrahi-Meissonnier L., McKibbin M., El-Asrag M., Watson C.M., Inglehearn C.F., Ben-Yosef T., Blumenfeld A., Jalas C., Banin E., Sharon D. Association Between Missense Mutations in the BBS2 Gene and Nonsyndromic Retinitis Pigmentosa. JAMA Ophthalmol 133:312-318 (2015).
Haer-Wigman, L., Newman, H., Leibu, R., Bax, N.M., Baris, H.N., Rizel, L., Banin, E., Massarweh, A., Roosing, S., Lefeber, D., Zonneveld-Vrieling, M.N., Isakov, I., Shomron, N., Sharon, D., den Hollander, A.I., Hoyng, C.B., Cremers, F.P.M., Ben-Yosef, T. Non-syndromic Retinal Dystrophy due to Mutations of the Mucopolysaccharidosis Type IIIC Gene, Heparan-Alpha-Glucosaminide N-Acetyltransferase (HGSNAT). Hum Mol Genet 24(13):3742-51 (2015).
Zung, A., Kori, M., Granot, E., Ben-Yosef, T., Tatoor, Y., Burundukov, E. Homozygous Deletion of TRMT10A as part of a Contiguous Gene Deletion in a Syndrome of Failure to Thrive, Delayed Puberty, Intellectual Disability and Diabetes Mellitus. Am. J Med. Genet. A. 167A(12):3167-73 (2015).
Beryozkin, A., Shevah, E., Kimchi, A., Mizrahi-Meissonnier, L., Khateb, S., Ratnapriya, R., Lazar, C.H., Blumenfeld, A., Ben-Yosef, T., Hemo, Y., Pe’er, J., Averbuch, E., Sagi, M., Boleda, A., Gieser, L., Zlotogorski, A., Falik-Zaccai, T., Alimi-Kasem, O., Jacobson, S.G., Chowers, I., Swaroop, A., Banin, E., Sharon, D. Whole Exome Sequencing Reveals Mutations in Known Retinal Disease Genes in 33 out of 68 Israeli Families with Inherited Retinopathies. Sci. Rep. 5:13187 (2015).
Eidinger, O., Leibu, R., Newman, H., Rizel, L., Perlman, I, Ben-Yosef, T. An intronic deletion in the PROM1 gene leads to autosomal recessive cone-rod dystrophy. Mol. Vis. 21:1295-1306 (2015).
Behar, D.M., Davidov, B., Brownstein, Z., Ben-Yosef, T., Avraham, K.B., Shohat, M. 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(2):123-6 (2014).
Ajmal, M., Khan, M.I., Neveling, K., Khan, Y.M., Azam, M., Waheed, N.K., Hamel, C., Ben-Yosef, T., De Baere, E., Koenekoop, R.K., Collin, R.W.J., Qamar, R., Cremers, F.P.M. A missense mutation in the splicing factor gene DHX38 is associated with early-onset retinitis pigmentosa with macular coloboma. J Med Genet 51(7):444-8 (2014).
Remez, L., Zobor, D., Kohl, S., Ben-Yosef, T. The Progressive Rod-Cone Degeneration (PRCD) protein is secreted through the conventional ER/Golgi-dependent pathway. Exp Eye res 125:217-225 (2014).
Goldenberg-Cohen N, Banin E, Zalzstein Y, Cohen B, Rotenstreich Y, Rizel L, Basel-Vanagaite L, Ben-Yosef T. Genetic heterogeneity and consanguinity lead to a “double hit”: Homozygous mutations of both MYO7A and PDE6B in a patient with retinitis pigmentosa. Mol Vis 19: 1565-1571 (2013).
Nevet, M.J., Vekslin, S., Dizhoor, A.M., Olshevskaya, E.V., Tidhar, R., Futerman, A.H., and Ben-Yosef, T. Ceramide Kinase-Like (CERKL) interacts with neuronal calcium sensor proteins in the retina in a cation-dependent manner. Invest. Ophthalmol. Vis. Sci. 53(8):4565-74 (2012).
Cohen, B., Chervinsky, E., Jabaly-Habib, H., Shalev, S.A., Briscoe, D., and Ben-Yosef, T. A novel splice-site mutation of CDHR1 in a consanguineous Israeli Christian Arab family segregating autosomal recessive cone-rod dystrophy. Mol Vis 18:2915-21 (2012).
Khateb, S., Zelinger, L., Ben-Yosef, T., Merin, S., Kristal-Shalit, O., Gross, M., Banin, E., and Sharon, D. Exome Sequencing Identifies a Founder Frameshift Mutation in an Alternative Exon of USH1C as the Cause of Autosomal Recessive Retinitis Pigmentosa with Late-Onset Hearing Loss. PLOS ONE 7(12): e51566 (2012).
Zelinger, L., Banin, E., Obolensky, A., Mizrahi-Meissonnier, L., Beryotzkin, A., Bandah-Rozenfeld, D., Ben-Yosef, T., Merin, S., Schwartz, S.B., Cideciyan, A.V., Jacobson, S.G., Sharon, D. A Missense Mutation in the Dehydrodolichyl Diphosphate Synthase (DHDDS) Gene is Associated with Autosomal Recessive Retinitis Pigmentosa in Ashkenazi Jews. Am J Hum Genet 88(2):207-15 (2011).
Rizel, L., Safieh, C., Shalev, S.A., Mezer, E., Jabaly-Habib, H., Ben-Neriah, Z., Chervinsky, E., Briscoe, D., and Ben-Yosef, T. Novel mutations of MYO7A and USH1G in Israeli Arab families with type 1 Usher syndrome. Mol Vis 17:35480-55 (2011).
Bandah-Rozenfeld, D. Littink, K.W., Ben-Yosef, T., Merin, S., Strom, T.M., Chowers, I., Banin, E., Cremers, F.P.M., and Sharon, D. Novel null mutations in the EYS gene are a frequent cause of autosomal recessive retinitis pigmentosa in the Israeli population. Invest. Ophthalmol. Vis. Sci. 51(9):4387-942 (2010).
Nevet, M.J., Shalev, S.A., Zlotogora, J., Mazzawi. N., and Ben-Yosef, T. The identification of a prevalent founder mutation in an Israeli Muslim Arab village confirms the role of PRCD in the etiology of retinitis pigmentosa in humans. J Med Genet 47(8): 533-537 (2010).
Collin, R.W.J., Safieh, C., Littink, K.W., Shalev, S.A., Garzozi, H.J., Rizel, L., Abbasi, A.H., Cremers, F.P.M., den Hollander, A.I., Klevering, B.J., Ben-Yosef, T. Mutations in C2ORF71 cause autosomal recessive retinitis pigmentosa. Am J Hum Genet 86(5):783-8 (2010).
Goldmann, T., Rebibo-Sabbah, A., Overlack, N., Nudelman, I., Belakhov, V., Baasov, T., Ben-Yosef, T., Wolfrum, U., and Nagel-Wolfrum, K. (2010) Beneficial Read-Through of a USH1C Nonsense Mutation by Designed Aminoglycoside NB30 in the Retina. Invest. Ophthalmol. Vis. Sci. 51(12): 6671-80 (2010).
Dvir, L., Srour, G., Abu-Ras, R., Miller, B., Shalev, S.A., and Ben-Yosef, T. Autosomal recessive severe early-onset retinitis pigmentosa caused by a mutation in PDE6G, the gene encoding the gamma subunit of rod cGMP phosphodiesterase. Am J Hum Genet 87(2):258-64 (2010).
Bandah-Rozenfeld, D., Mizrahi-Meissonnier, L., Farhy, C., Obolensky, A., Chowers, I, Pe’er, J., Merin, S., Ben-Yosef, T., Ashery-Padan, T., Banin, E., and Sharon, D. Homozygosity Mapping Reveals Null Mutations in FAM161A as a cause of Autosomal Recessive Retinitis Pigmentosa. Am J Hum Genet 87(3):382-91 (2010).
Vekslin, S. and Ben-Yosef, T. Spatiotemporal expression pattern of ceramide kinase-like in the mouse retina. Mol. Vis. 16:2539-49 (2010).
Elkouby-Naor, L. and Ben-Yosef, T. Functions of claudin tight junction proteins and their complex interactions in various physiological systems. In: Kwang W. Jeon, ed. Int. Rev. Cell Mol. Biol., Burlington: Academic Press, Vol. 279, pp. 1-32 (2010)
Benayoun, L., Spiegel, R., Auslender, N., Abbasi, A.H., Rizel, L., Hujeirat, Y., Salama, I., Garzozi, H.J., Allon-Shalev, S., and Ben-Yosef, T. Genetic heterogeneity in two consanguineous families segregating early onset retinal degeneration: The pitfalls of homozygosity mapping. Am. J Med. Genet. A. 149A (4): 650-656 (2009).
Nudelman, I., Rebibo-Sabbah, A., Cherniavsky, M., Belakhov, V., Hainrichson, M., Fuquan, C., Schacht, J., Pilch, D.S., Ben-Yosef, T., and Baasov, T. Development of novel aminoglycoside (NB54) with reduced toxicity and enhanced suppression of disease-causing premature stop mutations. J Med. Chem. 52(9): 2836-2845 (2009).
Abbasi, A.H., Garzozi, H., and Ben-Yosef, T. A novel splice-site mutation of TULP1 underlies severe early-onset retinitis pigmentosa in a consanguineous Israeli Muslim Arab family. Mol. Vis. 14: 675-682 (2008).
Auslender, N., Bandah, D., Rizel, L., Behar, D.M., Shohat, M., Banin, B., Allon-Shalev, S., Sharony, R., Sharon, D., and Ben-Yosef, T. Four USH2A founder mutations underlie the majority of Usher syndrome type 2 cases among non-Ashkenazi Jews. Genet. Test. 12: 289-294 (2008).
Herrera, W., Aleman, T.S., Cideciyan, A.V., Roman, A.J., Banin, E., Ben-Yosef, T., Gardner, L.M., Sumaroka, A., Windsor, E.A.M., Schwartz, S.B., Stone, E.M., Liu, X.Z., Kimberling, W.J., and Jacobson, S.G. Retinal disease in Usher syndrome III caused by mutations in the clarin-1 gene. Invest. Ophthalmol. Vis. Sci. 49: 2651-2660 (2008).
Elkouby-Naor, L., Abassi, Z., Lagziel, L., Gow, A., and Ben-Yosef, T. Double gene deletion reveals the lack of cooperation between claudin 11 and claudin 14 tight junction proteins. Cell Tissue Res. 333: 427-438 (2008).
Benayoun, L., Granot, E., Rizel, L., Allon-Shalev, S., Behar, D.M., and Ben-Yosef, T. Abetalipoproteinemia in Israel: Evidence for a founder mutation in the Ashkenazi Jewish population and a contiguous gene deletion in an Arab patient. Mol. Genet. Metab. 90: 453-457 (2007).
Rebibo-Sabbah, A., Nudelman, I., Ahmed, Z.M., Baasov, T., and Ben-Yosef, T. In vitro and ex vivo suppression by aminoglycosides of PCDH15 nonsense mutations underlying type 1 Usher syndrome. Hum. Genet. 122: 373-381 (2007).
Auslender, N., Sharon, D., Abbasi, A.H., Garzozi, H.J., Banin, E., and Ben-Yosef, T. A common founder mutation of CERKL underlies autosomal recessive retinal degeneration with early macular involvement in the Yemenite Jewish population. Invest. Ophthalmol. Vis. Sci. 48: 5431-5438 (2007).
Nudelman, I., Rebibo-Sabbah, A., Shallom-Shezifi, D., Hainrichson, M., Stahl, I., Ben-Yosef, T.*, and Baasov, T.* Redesign of aminoglycosides for treatment of human genetic diseases caused by premature stop mutations. Bioorg. Med. Chem. Lett. 16: 6310-6315 (2006). (*co-corresponding authors.)