Research Output

1998

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
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
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
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
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
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
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
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

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
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