Research Output

Article

A common ancestral origin of the frequent and widespread 2299delG USH2A mutation

Dreyer, B., Tranebjærg, L., Brox, V., Rosenberg, T., Möller, C., Beneyto, M., Weston, M. D., Kimberling, W. J. & Nilssen, Ø., Jan 1 2001, In : American journal of human genetics. 69, 1, p. 228-234 7 p.

Research output: Contribution to journalArticle

53 Scopus citations

A genome-wide linkage scan for bone mineral density in an extended sample: Evidence for linkage on 11q23 and Xq27

Shen, H., Zhang, Y. Y., Long, J. R., Xu, F. H., Liu, Y. Z., Xiao, P., Zhao, L. J., Xiong, D. H., Liu, Y. J., Dvornyk, V., Rocha-Sanchez, S., Liu, P. Y., Li, J. L., Conway, T., Davies, K. M., Recker, R. R. & Deng, H. W., Oct 1 2004, In : Journal of Medical Genetics. 41, 10, p. 743-751 9 p.

Research output: Contribution to journalArticle

50 Scopus citations

A major human oral lysophosphatidic acid species, LPA 18:1, regulates novel genes in human gingival fibroblasts

Cerutis, D. R., Weston, M. D., Alnouti, Y., Bathena, S. P., Nunn, M. E., Ogunleye, A. O., McVaney, T. P., Headen, K. V. & Miyamoto, T., May 1 2015, In : Journal of periodontology. 86, 5, p. 713-725 13 p.

Research output: Contribution to journalArticle

4 Scopus citations

A mouse model of MIR-96, MIR-182 and MIR-183 misexpression implicates MIRNAs in cochlear cell fate and homeostasis

Weston, M., Tarang, S., Pierce, M. L., Pyakurel, U., Rocha-Sanchez, S., McGee, J. A., Walsh, E. J. & Soukup, G., Dec 1 2018, In : Scientific Reports. 8, 1, 3569.

Research output: Contribution to journalArticle

4 Scopus citations

Analysis of DNA elements that modulate myosin VIIA expression in humans.

Orten, D. J., Weston, M. D., Kelley, P. M., Cremers, C. W., Wagenaar, M., Jacobson, S. G. & Kimberling, W. J., Oct 1999, In : Human mutation. 14, 4, 1 p.

Research output: Contribution to journalArticle

4 Scopus citations

A Progress Report on the Localization of Usher Syndrome Type II to Chromosome 1q

WESTON, MICHAEL. D., KIMBERLING, WILLIAM. J., MÖLLER, CLAES. G., DAHL, SANDRA. PIEKE., SMITH, RICHARD. J., MARTINI, ALESSANDRO. & MILANI, MASSIMO., Sep 1991, In : Annals of the New York Academy of Sciences. 630, 1, p. 284-287 4 p.

Research output: Contribution to journalArticle

2 Scopus citations

CDH23 mutation and phenotype heterogeneity: A profile of 107 diverse families with Usher syndrome and nonsyndromic deafness

Astuto, L. M., Bork, J. M., Weston, M. D., Askew, J. W., Fields, R. R., Orten, D. J., Ohliger, S. J., Riazuddin, S., Morell, R. J., Khan, S., Riazuddin, S., Kremer, H., Van Hauwe, P., Moller, C. G., Cremers, C. W. R. J., Ayuso, C., Heckenlively, J. R., Rohrschneider, K., Spandau, U., Greenberg, J. & 7 others, Ramesar, R., Reardon, W., Bitoun, P., Millan, J., Legge, R., Friedman, T. B. & Kimberling, W. J., Jan 1 2002, In : American journal of human genetics. 71, 2, p. 262-275 14 p.

Research output: Contribution to journalArticle

157 Scopus citations

Conditional deletion of the human ortholog gene Dicer1 in Pax2-Cre expression domain impairs orofacial development

Barritt, L. C., Miller, J. M., Scheetz, L. R., Gardner, K., Pierce, M. L., Soukup, G. A. & Rocha-Sanchez, S. M., Sep 1 2012, In : Indian Journal of Human Genetics. 18, 3, p. 310-319 10 p.

Research output: Contribution to journalArticle

13 Scopus citations

Construction and characterization of a NotI linking library from human chromosome region 1q25-qter

Talmadge, C. B., Zhen, D. K., Wang, J. Y., Berglund, P., Li, B. F., Weston, M. D., Kimberling, W. J., Zabarovsky, E. R., Stanbridge, E. J., Klein, G. & Sumegi, J., Sep 1 1995, In : Genomics. 29, 1, p. 105-114 10 p.

Research output: Contribution to journalArticle

8 Scopus citations

Defective myosin VIIA gene responsible for Usher syndrome type IB

Well, D., Blanchard, S., Kaplan, J., Guilford, P., Gibson, F., Walsh, J., Mburu, P., Varela, A., Levilliers, J., Weston, M. D., Kelley, P. M., Kimberling, W. J., Wagenaar, M., Levi-Acobas, F., Larget-Piet, D., Munnich, A., Steel, K. P., Brown, S. D. M. & Petit, C., Jan 1 1995, In : Nature. 374, 6517, p. 60-61 2 p.

Research output: Contribution to journalArticle

809 Scopus citations

Determination of hair cell metabolic state in isolated cochlear preparations by two-photon microscopy

Tiede, L. M., Rocha-Sanchez, S. M., Hallworth, R., Nichols, M. G. & Beisel, K., Mar 1 2007, In : Journal of Biomedical Optics. 12, 2, 021004.

Research output: Contribution to journalArticle

29 Scopus citations

Developmental expression of Kcnq4 in vestibular neurons and neurosensory epithelia

Rocha-Sanchez, S. M. S., Morris, K. A., Kachar, B., Nichols, D., Fritzsch, B. & Beisel, K. W., Mar 30 2007, In : Brain Research. 1139, 1, p. 117-125 9 p.

Research output: Contribution to journalArticle

24 Scopus citations

Development of a genotyping microarray for Usher syndrome

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. R., Saihan, Z., De Baere, E., Leroy, B. P., Silvestri, G. & 10 others, McKay, G. J., Koenekoop, R. K., Millan, J. M., Rosenberg, T., Joensuu, T., Sankila, E. M., Weil, D., Weston, M. D., Wissinger, B. & Kremer, H., Feb 1 2007, In : Journal of Medical Genetics. 44, 2, p. 153-160 8 p.

Research output: Contribution to journalArticle

86 Scopus citations

Differential expression of KCNQ4 in inner hair cells and sensory neurons is the basis of progressive high-frequency hearing loss

Beisel, K. W., Rocha-Sanchez, S. M., Morris, K. A., Nie, L., Feng, F., Kachar, B., Yamoah, E. N. & Fritzsch, B., Oct 5 2005, In : Journal of Neuroscience. 25, 40, p. 9285-9293 9 p.

Research output: Contribution to journalArticle

82 Scopus citations

Dinucleotide (CT)n (CA)n repeat polymorphism for D11S787 on chromosome 11q13.4

Overbeck, L. D., Weston, M. D., Kimberling, W. J. & Evans, G. A., May 1 1993, In : Human Molecular Genetics. 2, 5, 1 p.

Research output: Contribution to journalArticle

2 Scopus citations

Diversity of Ca2+-activated K+ channel transcripts in inner ear hair cells

Beisel, K. W., Rocha-Sanchez, S. M., Ziegenbein, S. J., Morris, K. A., Kai, C., Kawai, J., Carninci, P., Hayashizaki, Y. & Davis, R. L., Jan 15 2007, In : Gene. 386, 1-2, p. 11-23 13 p.

Research output: Contribution to journalArticle

26 Scopus citations

Erratum: Analysis of DNA elements that modulate myosin VIIa expression in humans

Orten, D. J., Weston, M. D., Kelley, P. M., Cremers, C. W., Wagenaar, M., Jacobson, S. G. & Kimberling, W. J., Jan 2000, In : Human mutation. 15, 1, p. 114-115 2 p.

Research output: Contribution to journalArticle

Evolutionary insights into the unique electromotility motor of mammalian outer hair cells

Okoruwa, O. E., Weston, M. D., Sanjeevi, D. C., Millemon, A. R., Fritzsch, B., Hallworth, R. & Beisel, K. W., May 1 2008, In : Evolution and Development. 10, 3, p. 300-315 16 p.

Research output: Contribution to journalArticle

26 Scopus citations

Gene mapping of Usher syndrome type IIa: Localization of the gene to a 2.1-cM segment on chromosome 1q41

Kimberling, W. J., Weston, M. D., Moller, C., Van Aarem, A., Cremers, C. W. R. J., Sumegi, J., Ing, P. S., Connolly, C., Martini, A., Milani, M., Tamayo, M. L., Bernal, J., Greenberg, J. & Ayuso, C., Jan 1 1995, In : American journal of human genetics. 56, 1, p. 216-223 8 p.

Research output: Contribution to journalArticle

61 Scopus citations

Generation of a retinoblastoma (Rb)1-inducible dominant-negative (DN) mouse model

Tarang, S., Doi, S. M. S. R., Gurumurthy, C. B., Harms, D., Quadros, R. & Rocha-Sanchez, S. M., Feb 23 2015, In : Frontiers in Cellular Neuroscience. 9, FEB

Research output: Contribution to journalArticle

6 Scopus citations

Genetic heterogeneity of usher syndrome: Analysis of 151 families with usher type I

Astuto, L. M., Weston, M. D., Carney, C. A., Hoover, D. M., Cremers, C. W. R. J., Wagenaar, M., Moller, C., Smith, R. J. H., Pieke-Dahl, S., Greenberg, J., Ramesar, R., Jacobson, S. G., Ayuso, C., Heckenlively, J. R., Tamayo, M., Gorin, M. B., Reardon, W. & Kimberling, W. J., 2000, In : American journal of human genetics. 67, 6, p. 1569-1574 6 p.

Research output: Contribution to journalArticle

51 Scopus citations

Genetic heterogeneity of Usher syndrome type II

Dahl, S. P., Kimberling, W. J., Gorin, M. B., Weston, M. D., Furman, J. M. R., Pikus, A. & Moller, C., Jan 1 1993, In : Journal of Medical Genetics. 30, 10, p. 843-848 6 p.

Research output: Contribution to journalArticle

44 Scopus citations

Genetic Studies of Usher Syndrome

KIMBERLING, W. J., WESTON, M. D., DAHL, S. PIEKE., KENYON, J. B., SHUGART, Y. Y., MOLLER, C., DAVENPORT, S. L. H., MARTINI, A., MILANI, M. & SMITH, R. J., Sep 1991, In : Annals of the New York Academy of Sciences. 630, 1, p. 167-175 9 p.

Research output: Contribution to journalArticle

14 Scopus citations

Genomic structure and identification of novel mutations in Usherin, the gene responsible for usher syndrome type IIa

Weston, M. D., Eudy, J. D., Fujita, S., Yao, S. F., Usami, S., Cremers, C., Greenburg, J., Ramesar, R., Martini, A., Moller, C., Smith, R. J., Sumegi, J. & Kimberling, W. J., Jan 1 2000, In : American journal of human genetics. 66, 4, p. 1199-1210 12 p.

Research output: Contribution to journalArticle

128 Scopus citations

Identification of novel USH2A mutations: Implications for the structure of USH2A protein

Dreyer, B., Tranebjærg, L., Rosenberg, T., Weston, M. D., Kimberling, W. J. & Nilssen, Ø., Jul 1 2000, In : European Journal of Human Genetics. 8, 7, p. 500-506 7 p.

Research output: Contribution to journalArticle

61 Scopus citations

Identification of the mouse and rat orthologs of the gene mutated in Usher syndrome type IIA and the cellular source of USH2A mRNA in retina, a target tissue of the disease

Huang, D., Eudy, J. D., Uzvolgyi, E., Davis, J. R., Talmadge, C. B., Pretto, D., Weston, M. D., Lehman, J. E., Zhou, M., Seemayer, T. A., Ahmad, I., Kimberling, W. J. & Sumegi, J., Jan 1 2002, In : Genomics. 80, 2, p. 195-203 9 p.

Research output: Contribution to journalArticle

12 Scopus citations

Identification of three novel mutations in human EYA1 protein associated with Branchio-oto-renal syndrome

Kumar, S., Kimberling, W. J., Weston, M. D., Schaefer, B. G., Berg, M. A., Marres, H. A. M. & Cremers, C. W. R. J., May 12 1998, In : Human mutation. 11, 6, p. 443-449 7 p.

Research output: Contribution to journalArticle

47 Scopus citations

Inducible and Reversible Dominant-negative (DN) Protein Inhibition

Tarang, S., Pyakurel, U., Doi, S. M. S. R., Weston, M. & Rocha-Sanchez, S., Jan 7 2019, In : Journal of visualized experiments : JoVE. 143

Research output: Contribution to journalArticle

In silico Design of a Multivalent Vaccine Against Candida albicans

Tarang, S., Kesherwani, V., LaTendresse, B., Lindgren, L., Rocha-Sanchez, S. M. & Weston, M. D., Dec 1 2020, In : Scientific Reports. 10, 1, 1066.

Research output: Contribution to journalArticle

Open Access

Isolation of a gene encoding a novel member of the nuclear receptor superfamily from the critical region of usher syndrome type IIa at 1q41

Eudy, J. D., Yao, S., Weston, M. D., Ma-Edmonds, M., Talmadge, C. B., Cheng, J. J., Kimberling, W. J. & Sumegi, J., Jun 15 1998, In : Genomics. 50, 3, p. 382-384 3 p.

Research output: Contribution to journalArticle

108 Scopus citations

Isolation of a novel human homologue of the gene coding for echinoderm microtubule-associated protein (EMAP) from the Usher syndrome type la locus at 14q32

Eudy, J. D., Ma-Edmonds, M., Yao, S. F., Talmadge, C. B., Kelley, P. M., Weston, M. D., Kimberling, W. J. & Sumegi, J., Jul 1 1997, In : Genomics. 43, 1, p. 104-106 3 p.

Research output: Contribution to journalArticle

33 Scopus citations

Localization of PDZD7 to the stereocilia ankle-link associates this scaffolding protein with the usher syndrome protein network

Grati, M., Shin, J. B., Weston, M. D., Green, J., Bhat, M. A., Gillespie, P. G. & Kachar, B., Oct 10 2012, In : Journal of Neuroscience. 32, 41, p. 14288-14293 6 p.

Research output: Contribution to journalArticle

39 Scopus citations

Localization of Usher syndrome type II to chromosome 1q

Kimberling, W. J., Weston, M. D., Möller, C., Davenport, S. L. H., Shugart, Y. Y., Priluck, I. A., Martini, A., Milani, M. & Smith, R. J., Jun 1990, In : Genomics. 7, 2, p. 245-249 5 p.

Research output: Contribution to journalArticle

162 Scopus citations

Lysophosphatidic acid (LPA) 18:1 transcriptional regulation of primary human gingival fibroblasts

Cerutis, D. R., Weston, M. D., Ogunleye, A. O., McVaney, T. P. & Miyamoto, T., Jan 1 2014, In : Genomics Data. 2, p. 375-377 3 p.

Research output: Contribution to journalArticle

2 Scopus citations

Mapping quantitative trait loci for cross-sectional geometry at the femoral neck

Shen, H., Long, J. R., Xiong, D. H., Liu, Y. J., Liu, Y. Z., Xiao, P., Zhao, L. J., Dvornyk, V., Zhang, Y. Y., Rocha-Sanchez, S., Liu, P. Y., Li, J. L. & Deng, H. W., Nov 1 2005, In : Journal of Bone and Mineral Research. 20, 11, p. 1973-1982 10 p.

Research output: Contribution to journalArticle

24 Scopus citations

Mature mice lacking Rbl2/p130 gene have supernumerary inner ear hair cells and supporting cells

Rocha-Sanchez, S. M., Scheetz, L. R., Contreras, M., Weston, M. D., Korte, M., McGee, J. A. & Walsh, E. J., Jun 15 2011, In : Journal of Neuroscience. 31, 24, p. 8883-8893 11 p.

Research output: Contribution to journalArticle

24 Scopus citations

MicroRNA-183 family conservation and ciliated neurosensory organ expression

Pierce, M. L., Weston, M. D., Fritzsch, B., Gabel, H. W., Ruvkun, G. & Soukup, G. A., Jan 1 2008, In : Evolution and Development. 10, 1, p. 106-113 8 p.

Research output: Contribution to journalArticle

116 Scopus citations

MicroRNA-183 family expression in hair cell development and requirement of microRNAs for hair cell maintenance and survival

Weston, M. D., Pierce, M. L., Jensen-Smith, H. C., Fritzsch, B., Rocha-Sanchez, S., Beisel, K. W. & Soukup, G. A., Apr 1 2011, In : Developmental Dynamics. 240, 4, p. 808-819 12 p.

Research output: Contribution to journalArticle

76 Scopus citations

MicroRNA gene expression in the mouse inner ear

Weston, M. D., Pierce, M. L., Rocha-Sanchez, S., Beisel, K. W. & Soukup, G. A., Sep 21 2006, In : Brain Research. 1111, 1, p. 95-104 10 p.

Research output: Contribution to journalArticle

150 Scopus citations

Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa

Eudy, J. D., Weston, M. D., Yao, S. F., Hoover, D. M., Rehm, H. L., Ma-Edmonds, M., Yan, D., Ahmad, I., Cheng, J. J., Ayuso, C., Cremers, C., Davenport, S., Moller, C., Talmadge, C. B., Beisel, K. W., Tamayo, M., Morton, C. C., Swaroop, A., Kimberling, W. J. & Sumegi, J., Jun 12 1998, In : Science. 280, 5370, p. 1753-1757 5 p.

Research output: Contribution to journalArticle

263 Scopus citations

Mutations in the VLGR1 Gene Implicate G-Protein Signaling in the Pathogenesis of Usher Syndrome Type II

Weston, M. D., Luijendijk, M. W. J., Humphrey, K. D., Möller, C. & Kimberling, W. J., Feb 2004, In : American journal of human genetics. 74, 2, p. 357-366 10 p.

Research output: Contribution to journalArticle

213 Scopus citations

Non-syndromic hearing loss associated with enlarged vestibular aqueduct is caused by PDS mutations

Usami, S. I., Abe, S., Weston, M. D., Shinkawa, H., Van Camp, G. & Kimberling, W. J., Mar 22 1999, In : Human Genetics. 104, 2, p. 188-192 5 p.

Research output: Contribution to journalArticle

231 Scopus citations

Nucleolus size varies with sex, ploidy and gene dosage in insects

Montiel, E. E., Manrique-Poyato, M. I., Rocha-Sánchez, S. M., López-León, M. D., Cabrero, J., Perfectti, F. & Camacho, J. P. M., Jun 1 2012, In : Physiological Entomology. 37, 2, p. 145-152 8 p.

Research output: Contribution to journalArticle

3 Scopus citations

Phylogenetic analysis of mitochondrial DNA in Japanese pedigrees of sensorineural hearing loss associated with the A1555G mutation

Abe, S., Usami, S. I., Shinkawa, H., Weston, M. D., Overbeck, L. D., Hoover, D. M., Kenyon, J. B., Horai, S. & Kimberling, W. J., Jan 1 1998, In : European Journal of Human Genetics. 6, 6, p. 563-569 7 p.

Research output: Contribution to journalArticle

Open Access
29 Scopus citations

PLCγ-activated signalling is essential for TrkB mediated sensory neuron structural plasticity

Sciarretta, C., Fritzsch, B., Beisel, K., Rocha-Sanchez, S. M., Buniello, A., Horn, J. M. & Minichiello, L., 2010, In : BMC Developmental Biology. 10, 103.

Research output: Contribution to journalArticle

19 Scopus citations

Posthearing Ca2+ currents and their roles in shaping the different modes of firing of spiral ganglion neurons

Lv, P., Sihn, C. R., Wang, W., Shen, H., Kim, H. J., Rocha-Sanchez, S. M. & Yamoah, E. N., Nov 14 2012, In : Journal of Neuroscience. 32, 46, p. 16314-16330 17 p.

Research output: Contribution to journalArticle

Open Access
23 Scopus citations

Pure tone hearing thresholds and speech recognition scores in Dutch patients carrying mutations in the USH2A gene

Pennings, R. J. E., Huygen, P. L. M., Weston, M. D., Van Aarem, A., Wagenaar, M., Kimberling, W. J. & Cremers, C. W. R. J., Jan 1 2003, In : Otology and Neurotology. 24, 1, p. 58-63 6 p.

Research output: Contribution to journalArticle

24 Scopus citations

Quinoxaline protects zebrafish lateral line hair cells from cisplatin and aminoglycosides damage

Sanchez, S. M. R., Fuson, O., Tarang, S., Goodman, L., Pyakurel, U., Liu, H., He, D. Z. & Zallocchi, M., Dec 1 2018, In : Scientific Reports. 8, 1, 15119.

Research output: Contribution to journalArticle

Report on Attempts to Localize Usher Syndrome Type 1 by Linkage Analysis to Selected Candidate Regions

DAHL, S. PIEKE., WESTON, M. D., KIMBERLING, W. J., KENYON, J. B., SHUGART, Y. Y. & SMITH, R. J. H., Sep 1991, In : Annals of the New York Academy of Sciences. 630, 1, p. 298-300 3 p.

Research output: Contribution to journalArticle

Residual microRNA expression dictates the extent of inner ear development in conditional Dicer knockout mice

Soukup, G. A., Fritzsch, B., Pierce, M. L., Weston, M. D., Jahan, I., McManus, M. T. & Harfe, B. D., Apr 15 2009, In : Developmental Biology. 328, 2, p. 328-341 14 p.

Research output: Contribution to journalArticle

95 Scopus citations