Publications

Kimberling, W.J. & Moller, C. (1995). Clinical and molecular genetics of usher syndrome. J. Am. Acad. Audiol. 6, 63-72.

Steel, K.P. & Kimberling, W.J. (1996). Approaches to understanding the molecular genetics of hearing and deafness. In T. R. Van de Water, A. N. Popper & R. Fay (Eds.), Clinical Aspects of Hearing (Springer Handbook of Auditory Research). Springer, New York, pp. 10-40.

Weston, M.D., Kelley, P.M., Overbeck, L.D., Wagenaar, M., Hasson, T., Orten, D.J., Chen, Z.-Y., Corey, D., Mooseker, M., Sumegi, J., Cremers, C.W.R.J., Moller, C., Jacobson, S.G., Gorin, M.B. & Kimberling, W.J. (1996). Myosin VIIA mutation screening in 189 Usher syndrome type 1 patients. Am. J. Hum. Genet. 59, 1074-1083.

Cohn, E.S., Kelley, P.M., Fowler, T., Gorga, M.P., Lefkowitz, D., Kuehn, H., Schaefer, G.B., Gobar, L.S., Hahn, F.J., Harris, D.J. & Kimberling, W.J. (1999). Clinical studies of families with hearing loss attributable to mutations in the connexin 26 gene (GJB2/DFNB1). Pediatrics 103, 546-550.

Pieke-Dahl, S.A., Moller, C.G., Kelley, P.M., Astuto, L.M., Cremers, C.W.R.J., Gorin, M.B. & Kimberling, W.J. (2000). Genetic heterogeneity of Usher syndrome type II: Localisation to chromosome 5q. J. Med. Genet. 37, 256-262.

Weston, M.D., Eudy, J.D., Fujita, S., Yao, S.-F., Usami, S.I., Cremers, C.W.R.J., Greenberg, J., Ramesar, R., Martini, A., Moller, C., Smith, R.J.H., Sumegi, J., Kimberling, W.J. & Greenburg, J. (2000). Genomic structure and identification of novel mutations in usherin, the gene responsible for Usher syndrome type IIa. Am. J. Hum. Genet. 66, 1199-1210.

Kimberling, W.J. & Lindenmuth, A.F. (2006). The Usher syndromes. Sem. Hear. 27, 182-192.

Sadeghi, A.M., Eriksson, K., Kimberling, W.J., Sjostrom, A. & Moller, C. (2006). Longterm visual prognosis in Usher syndrome types 1 and 2. Acta Ophthalmol. Scand. 84, 537-544.

Varga, R., Avenarius, M.R., Kelley, P.M., Keats, B.J., Berlin, C.I., Hood, L.J., Morlet, T.G., Brashears, S.M., Starr, A., Cohn, E.S., Smith, R.J. & Kimberling, W.J. (2006). OTOF mutations revealed by genetic analysis of hearing loss families including a potential temperature- sensitive auditory neuropathy allele. J. Med. Genet. 43, 576-581.

Azaiez, H., Yang, T., Prasad, S., Sorensen, J.L., Nishimura, C.J., Kimberling, W.J. & Smith, R.J. (2007). Genotype-phenotype correlations for SLC26A4-related deafness. Hum. Genet. 122, 451-457.

Cremers, F.P.M., Kimberling, W.J., Külm, M., De Brouwer, A.P., van Wijk, E., te Brinke, H., Cremers, C.W.R.J., Hoefsloot, L.H., Banfi, S., Simonelli, F., Fleischhauer, J.C., Berger, W., Kelley, P.M., Haralambous, E., Bitner-Glindzicz, M., Webster, A., Saihan, Z., De Baere, E., Leroy, B.P., Silvestri, G., McKay, G.J., Koenekoop, R.K., Millan, J.M., Rosenberg, T., Joensuu, T., Sankila, E., Weil, D., Weston, M., Wissinger, B. & Kremer, H. (2007). Development of a genotyping microarray for Usher syndrome. J. Med. Genet. 44, 153-160.

Fishman, G.A., Bozbeyoglu, S., Massof, R.W. & Kimberling, W.J. (2007). Natural course of visual field loss in patients with type 2 Usher syndrome. Retina 27, 601-608.

Hoskins, B.E., Cramer, C.H.I., Silvius, D., Zou, D., Raymond, R.M.Jr., Orten, D.J., Kimberling, W.J., Smith, R.J.H., Weil, D., Petit, C., Otto, E.A., Xu, P.X. & Hildebrandt, F. (2007). Transcription factor SIX5 is mutated in patients with branchio-oto-renal syndrome. Am. J. Hum. Genet. 80, 800-804.

Kimberling, W.J. & Lindenmuth, A.F. (2007). Genetics, hereditary hearing loss, and ethics. Sem. Hear. 28, 216-225.

Kochhar, A., Fischer, S.M., Kimberling, W.J. & Smith, R.J. (2007). Branchio-oto-renal syndrome. Am. J. Med. Genet. 143, 1671-1678.

Smith, R.J., Alexander, J., Barlow, P.N., Botto, M., Cassavant, T.L., Cook, H.T., de Cordoba, S.R., Hageman, G.S., Jokiranta, T.S., Kimberling, W.J., Lambris, J.D., Lanning, L.D., Levidiotis, V., Licht, C., Lutz, H.U., Meri, S., Pickering, M.C., Quigg, R.J., Rops, A.L., Salant, D.J., Sethi, S., Thurman, J.M., Tully, H.F., Tully, S.P., van der Vlag, J., Walker, P.D., Wurzner, R., Zipfel, P.F. & Dense Deposit Disease Focus Group. (2007). New approaches to the treatment of dense deposit disease. J. Am. Soc. Nephrol. 18, 2447-2456.

Gopalarao, D., Kimberling, W.J., Jesteadt, W., Kelley, P.M., Beauchaine, K.L. & Cohn, E.S. (2008). Is hearing loss due to mutations in the Connexin 26 gene progressive? Int. J. Audiol. 47, 11-20.

Herrera, W., Aleman, T., Cideciyan, A.V., Roman, A.J., Banin, E., Ben-Yosef, T., Gardner, L.M., Sumaroka, A., Windsor, E.A., Schwartz, S.B., Stone, E.M., Liu, X.Z., Kimberling, W.J. & Jacobsen, S.G. (2008). Retinal disease in Usher syndrome III caused by mutations in the clarin-1 gene. Invest. Ophthalmol. Vis. Sci. 49, 2651-2660.

Hildebrand, M.S., Sorensen, J.L., Jensen, M., Kimberling, W.J. & Smith, R.J.H. (2008). Autoimmune disease in a DFNA6/14/38 family carrying a novel missense mutation in WFS1. Am. J. Med. Genet. Part A (in press).

Jacobsen, S.G., Cideciyan, A.V., Aleman, T.S., Sumaroka, A., Roman, A.J., Gardner, L.M., Prosser, H.M., Mishra, M., Bech-Hansen, N.T., Herrera, W., Schwartz, S.B., Liu, X.Z., Kimberling, W.J., Steel, K.P. & Williams, D.S. (2008). Usher syndromes due to MYO7A, PCDH15, USH2A or GPR98 mutations share retinal disease mechanism. Hum. Mol. Genet. (in press) [Epub ahead of print].

Kochhar, A., Orten, D.J., Sorensen, J.L., Fischer, S.M., Cremers, C.W., Kimberling, W.J. & Smith, R.J. (2008). SIX1 mutation screening in 247 branchio-oto-renal syndrome families: a recurrent missense mutation associated with BOR. Hum. Mutat. 29, 565-576.

Orten, D.J., Fischer, S.M., Sorensen, J.L., Radhakrishna, U., Cremers, C., Marres, H.A., Van Camp, G., Welch, K.O., Smith, R.J. & Kimberling, W.J. (2008). Branchio-oto-renal syndrome (BOR): novel mutations in the EYA1 gene, and a review of the mutational genetics of BOR. Hum. Mutat. 29, 537-544.

Oshima, A., Jaijo, T., Aller, E., Millan, J.M., Carney, C., Usami, S., Moller, C. & Kimberling, W.J. (2008). Mutation profile of the CDH23 gene in 56 probands with Usher syndrome type I. Hum. Mutat. 29, E37-E46.

​Tamayo, M.L., Lopez, G., Gelvez, N., Medina, D., Kimberling, W.J., Rodriguez, V., Tamayo, G.E. & ​Bernal, J.E. (2008). Genetic counseling in Usher syndrome: linkage and mutational analysis of 10 Colombian families. Genet. Couns. 19, 15-27.