Research Output

1989

Usher syndrome: Clinical findings and gene localization studies

Kimberling, W. J., Möller, C. G., Davenport, S. L. H., Lund, G., Grissom, T. J., Priluck, I., White, V., Weston, M. D., Biscone-Halterman, K. & Brookhouser, P. E., Jan 1989, In : Laryngoscope. 99, 1, p. 66-72 7 p.

Research output: Contribution to journalArticle

33 Scopus citations
1990

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
1991

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

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

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

1992

A new highly polymorphic dinucleotide (CT)n repeat polymorphism D1S158 on chromsome 1q isolated by microdissection

Overbeck, L. D., Weston, M. D., Kimberling, W. J. & Johnson, D. H., May 1 1992, In : Human Molecular Genetics. 1, 2, 1 p.

Research output: Contribution to journalComment/debate

4 Scopus citations
1993

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

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
1994

Dinucleotide repeat polymorphism for D1S70 (CRI-L461) on chromosome 1q41

Weston, M. D. & Kimberling, W. J., Jul 1 1994, In : Human Molecular Genetics. 3, 7, 1 p.

Research output: Contribution to journalComment/debate

3 Scopus citations

Dinucleotide repeat polymorphism in the TGFB2 gene

Weston, M. D., Zhen, D. K., Sumegi, J. & Kimberling, W. J., Jul 1 1994, In : Human Molecular Genetics. 3, 7, 1 p.

Research output: Contribution to journalComment/debate

5 Scopus citations
1995

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

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
1996

The construction of a yeast artificial chromosome (YAC) contig in the vicinity of the Usher syndrome type IIa (USH2A) gene in 1q41

Sumegi, J., Wang, J. Y., Zhen, D. K., Eudy, J. D., Talmadge, C. B., Li, B. F., Berglund, P., Weston, M. D., Yao, S. F., Ma-Edmonds, M., Overbeck, L., Kelley, P. M., Zabarovsky, E., Uzvolgyi, E., Stanbridge, E. J., Klein, G. & Kimberling, W. J., Jul 1 1996, In : Genomics. 35, 1, p. 79-86 8 p.

Research output: Contribution to journalArticle

27 Scopus citations
1997

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
1998

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

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

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

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
1999

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

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
2000

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

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

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
2001

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

Spectrum of mutations in USH2A in british patients with usher syndrome type II

Leroy, B. P., Aragon-Martin, J. A., Webster, A. R., Payne, A. M., Bhattacharya, S. S., Leroy, B. P., Bessant, D. A. R., Willis, C., Webster, A. R., Bird, A. C., Weston, M. D. & Kimberling, W. J., Jan 1 2001, In : Experimental Eye Research. 72, 5, p. 503-509 7 p.

Research output: Contribution to journalArticle

33 Scopus citations
2002

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

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
2003

Molecular and genetic mechanisms of obesity: Implications for future management

Liu, Y. J., Araujo, S., Recker, R. R. & Deng, H. W., Jun 1 2003, In : Current Molecular Medicine. 3, 4, p. 325-340 16 p.

Research output: Contribution to journalReview article

30 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
2004

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

Current limitations of SNP data from the public domain for studies of complex disorders: A test for ten candidate genes for obesity and osteoporosis

Dvornyk, V., Long, J. R., Xiong, D. H., Liu, P. Y., Zhao, L. J., Shen, H., Zhang, Y. Y., Liu, Y. J., Rocha-Sanchez, S., Xiao, P., Recker, R. R. & Deng, H. W., Feb 25 2004, In : BMC Genetics. 5, 4.

Research output: Contribution to journalReview article

32 Scopus citations
3 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

Tests of linkage and/or association of the LEPR gene polymorphisms with obesity phenotypes in Caucasian nuclear families

Liu, Y. J., Rocha-Sanchez, S. M. S., Liu, P. Y., Long, J. R., Lu, Y., Elze, L., Recker, R. R. & Deng, H. W., Jul 1 2004, In : Physiological Genomics. 17, p. 101-106 6 p.

Research output: Contribution to journalArticle

33 Scopus citations
2005

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

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

The Mass1frings mutation underlies early onset hearing impairment in BUB/BnJ mice, a model for the auditory pathology of Usher syndrome IIC

Johnson, K. R., Zheng, Q. Y., Weston, M. D., Ptacek, L. J. & Noben-Trauth, K., May 2005, In : Genomics. 85, 5, p. 582-590 9 p.

Research output: Contribution to journalArticle

48 Scopus citations
2006

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
2007

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

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

Pocket proteins and cell cycle regulation in inner ear development

Rocha-Sanchez, S. M. S. & Beisel, K. W., Nov 16 2007, In : International Journal of Developmental Biology. 51, 6-7, p. 585-595 11 p.

Research output: Contribution to journalReview article

14 Scopus citations
2008

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

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
2009

MicroRNAs sound off

Weston, M. D. & Soukup, G. A., Jun 8 2009, In : Genome Medicine. 1, 6, gm59.

Research output: Contribution to journalShort survey

7 Scopus citations

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
2010

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