Research Output 1990 2019

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2019

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

Genes
Proteins
Peptide Hydrolases
Genetic Engineering
Proteasome Endopeptidase Complex
2018
2 Citations (Scopus)

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

Cochlea
MicroRNAs
Homeostasis
Inner Auditory Hair Cells
Homozygote

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

Rocha-Sanchez, S., 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

Quinoxalines
Aminoglycosides
Zebrafish
Cisplatin
Noise
2015
3 Citations (Scopus)

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

Cerutis, D. R., Weston, M., 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

Fibroblasts
Genes
Inflammation
Interleukin-11
Interleukin-8
5 Citations (Scopus)

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., Feb 23 2015, In : Frontiers in Cellular Neuroscience. 9, FEB

Research output: Contribution to journalArticle

Retinoblastoma
Inner Auditory Hair Cells
Inner Ear
Retinoblastoma Genes
Cell Proliferation
2014
2 Citations (Scopus)

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

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

Research output: Contribution to journalArticle

Fibroblasts
Genes
Lysophosphatidic Acid Receptors
Gingival Crevicular Fluid
lysophosphatidic acid
2012
11 Citations (Scopus)

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. & Rocha-Sanchez, S., Sep 2012, In : Indian Journal of Human Genetics. 18, 3, p. 310-319 10 p.

Research output: Contribution to journalArticle

Genes
MicroRNAs
Cell Survival
Branchial Region
Physiologic Calcification
33 Citations (Scopus)

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., 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

Usher Syndromes
Stereocilia
PDZ Domains
Ankle
Proteins
3 Citations (Scopus)

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

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

Research output: Contribution to journalArticle

gene dosage
Gene Dosage
ploidy
Ploidies
cell nucleolus
18 Citations (Scopus)

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. & Yamoah, E. N., Nov 14 2012, In : Journal of Neuroscience. 32, 46, p. 16314-16330 17 p.

Research output: Contribution to journalArticle

Spiral Ganglion
Neurons
Inner Ear
Membrane Potentials
Phenotype
2011
23 Citations (Scopus)

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

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

Research output: Contribution to journalArticle

Inner Auditory Hair Cells
Inner Ear
Genes
Hair
Cochlea
70 Citations (Scopus)

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

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

Research output: Contribution to journalArticle

MicroRNAs
Cell Survival
Maintenance
Inner Ear
Auditory Hair Cells
2010
18 Citations (Scopus)

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

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

Research output: Contribution to journalArticle

Type C Phospholipases
Sensory Receptor Cells
Epithelium
Dendrites
Vestibular Hair Cells
2009
91 Citations (Scopus)

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

Soukup, G., Fritzsch, B., Pierce, M. L., Weston, M., 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

Inner Ear
MicroRNAs
Knockout Mice
Epithelium
Stereocilia
2008
25 Citations (Scopus)

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

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

Research output: Contribution to journalArticle

Outer Auditory Hair Cells
Cochlea
Platypus
hair
hairs
107 Citations (Scopus)

MicroRNA-183 family conservation and ciliated neurosensory organ expression

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

Research output: Contribution to journalArticle

MicroRNAs
microRNA
metazoan
hair
Genome Components
2007
28 Citations (Scopus)

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

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

Research output: Contribution to journalArticle

Outer Auditory Hair Cells
Inner Auditory Hair Cells
Cochlea
hair
Photons
24 Citations (Scopus)

Developmental expression of Kcnq4 in vestibular neurons and neurosensory epithelia

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

Research output: Contribution to journalArticle

Epithelium
Neurons
Vestibular Hair Cells
Auditory Hair Cells
Labyrinth Vestibule
84 Citations (Scopus)

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., Wissinger, B. & Kremer, H., Feb 2007, In : Journal of Medical Genetics. 44, 2, p. 153-160 8 p.

Research output: Contribution to journalArticle

Usher Syndromes
DNA
Retinitis Pigmentosa
Genetic Heterogeneity
Sensorineural Hearing Loss
26 Citations (Scopus)

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

Beisel, K., Rocha-Sanchez, S., 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

Inner Auditory Hair Cells
Calcium-Activated Potassium Channels
Cochlea
Alternative Splicing
Inner Ear
2006
141 Citations (Scopus)

MicroRNA gene expression in the mouse inner ear

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

Research output: Contribution to journalArticle

Inner Ear
MicroRNAs
Gene Expression
Auditory Hair Cells
Vestibular Hair Cells
2005
78 Citations (Scopus)

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

Beisel, K., Rocha-Sanchez, S., 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

Inner Auditory Hair Cells
High-Frequency Hearing Loss
Spiral Ganglion
Sensory Receptor Cells
Outer Auditory Hair Cells
24 Citations (Scopus)

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 2005, In : Journal of Bone and Mineral Research. 20, 11, p. 1973-1982 10 p.

Research output: Contribution to journalArticle

Quantitative Trait Loci
Femur Neck
Pedigree
Osteoporotic Fractures
Genome
48 Citations (Scopus)

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., Ptacek, L. J. & Noben-Trauth, K., May 2005, In : Genomics. 85, 5, p. 582-590 9 p.

Research output: Contribution to journalArticle

Usher Syndromes
Hearing Loss
Pathology
Mutation
Seizures
2004
49 Citations (Scopus)

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 2004, In : Journal of Medical Genetics. 41, 10, p. 743-751 9 p.

Research output: Contribution to journalArticle

Bone Density
Genome
Pedigree
Sample Size
Pelvic Bones
199 Citations (Scopus)

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

Weston, M., 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

Usher Syndromes
GTP-Binding Proteins
Mutation
Genes
Protein Interaction Domains and Motifs
33 Citations (Scopus)

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

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

Research output: Contribution to journalArticle

Leptin Receptors
Nuclear Family
Obesity
Fats
Phenotype
2003
22 Citations (Scopus)

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

Research output: Contribution to journalArticle

Hearing
Mutation
Genes
Hearing Loss
Tertiary Care Centers
2002
137 Citations (Scopus)

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., 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., 2002, In : American Journal of Human Genetics. 71, 2, p. 262-275 14 p.

Research output: Contribution to journalArticle

Usher Syndromes
Phenotype
Mutation
Retinitis Pigmentosa
Missense Mutation
11 Citations (Scopus)

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., Lehman, J. E., Zhou, M., Seemayer, T. A., Ahmad, I., Kimberling, W. J. & Sumegi, J., 2002, In : Genomics. 80, 2, p. 195-203 9 p.

Research output: Contribution to journalArticle

Retina
Messenger RNA
Genes
Proteins
Epidermal Growth Factor
2001
49 Citations (Scopus)

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., Kimberling, W. J. & Nilssen, 2001, In : American Journal of Human Genetics. 69, 1, p. 228-234 7 p.

Research output: Contribution to journalArticle

Usher Syndromes
Mutation
Haplotypes
Retinitis Pigmentosa
Genes
31 Citations (Scopus)

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

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

Research output: Contribution to journalArticle

Usher Syndromes
Mutation
Retinitis Pigmentosa
Genes
Exons
2000

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

Orten, D. J., Weston, M., 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

Introns
DNA
Heteroduplex Analysis
Mutation
Retinitis Pigmentosa
50 Citations (Scopus)

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

Astuto, L. M., Weston, M., 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

Usher Syndromes
Genetic Heterogeneity
Chromosomes, Human, Pair 10
Mutation
Genes
121 Citations (Scopus)

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

Weston, M., 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., 2000, In : American Journal of Human Genetics. 66, 4, p. 1199-1210 12 p.

Research output: Contribution to journalArticle

Usher Syndromes
Mutation
Genes
Laminin
Exons
56 Citations (Scopus)

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

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

Research output: Contribution to journalArticle

Mutation
Missense Mutation
Usher Syndromes
Proteins
Genes
1999
4 Citations (Scopus)

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

Orten, D. J., Weston, M., Kelley, P. M., Cremers, C. W., Wagenaar, M., Jacobson, S. G. & Kimberling, W. J., Oct 1999, In : Human Mutation. 14, 4, p. 354 1 p.

Research output: Contribution to journalArticle

Myosins
Introns
DNA
Heteroduplex Analysis
Mutation
220 Citations (Scopus)

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

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

Research output: Contribution to journalArticle

Hearing Loss
Sensorineural Hearing Loss
Mutation
Inner Ear
Heterozygote
1998
47 Citations (Scopus)

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

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

Research output: Contribution to journalArticle

Branchio-Oto-Renal Syndrome
Mutation
Heteroduplex Analysis
Branchial Region
Kidney
101 Citations (Scopus)

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., 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

Usher Syndromes
Cytoplasmic and Nuclear Receptors
Genes
247 Citations (Scopus)

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

Eudy, J. D., Weston, M., Yao, S., 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., 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

Usher Syndromes
Extracellular Matrix Proteins
Genetic Databases
Mutation
Retinitis Pigmentosa
29 Citations (Scopus)

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., Overbeck, L. D., Hoover, D. M., Kenyon, J. B., Horai, S. & Kimberling, W. J., Nov 1998, In : European Journal of Human Genetics. 6, 6, p. 563-569 7 p.

Research output: Contribution to journalArticle

Sensorineural Hearing Loss
Pedigree
Mitochondrial DNA
Mutation
4 alpha-glucanotransferase
1997
32 Citations (Scopus)

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., Kimberling, W. J. & Sumegi, J., Jul 1 1997, In : Genomics. 43, 1, p. 104-106 3 p.

Research output: Contribution to journalArticle

Usher Syndromes
Microtubule-Associated Proteins
Genes
Expressed Sequence Tags
Gene Library
1996
26 Citations (Scopus)

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., 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

Usher Syndromes
Sequence Tagged Sites
Yeast Artificial Chromosomes
Microsatellite Repeats
Genes
1995
8 Citations (Scopus)

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., 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

Human Chromosomes
Libraries
Clone Cells
Usher Syndromes
CpG Islands
791 Citations (Scopus)

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., 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., 1995, In : Nature. 374, 6517, p. 60-61 2 p.

Research output: Contribution to journalArticle

Usher Syndromes
Myosins
Genes
Photoreceptor Connecting Cilium
Mutation
59 Citations (Scopus)

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., 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., 1995, In : American Journal of Human Genetics. 56, 1, p. 216-223 8 p.

Research output: Contribution to journalArticle

Usher Syndromes
Chromosome Mapping
Chromosomes
Genes
Retinitis Pigmentosa
1993
2 Citations (Scopus)

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

Overbeck, L. D., Weston, M., Kimberling, W. J. & Evans, G. A., May 1993, In : Human Molecular Genetics. 2, 5, p. 611 1 p.

Research output: Contribution to journalArticle

Molecular Sequence Data
Chromosomes, Human, Pair 11
Oligodeoxyribonucleotides
Nucleic Acid Repetitive Sequences
Chromosomes
43 Citations (Scopus)

Genetic heterogeneity of Usher syndrome type II

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

Research output: Contribution to journalArticle

Usher Syndromes
Genetic Heterogeneity
Retinitis Pigmentosa
Sensorineural Hearing Loss
Chromosomes
1991
2 Citations (Scopus)

A progress report on the localization of Usher syndrome type II to chromosome 1q

Weston, M., Kimberling, W. J., Moller, C. G., Dahl, S. P., Smith, R. J., Martini, A. & Milani, M., 1991, In : Annals of the New York Academy of Sciences. 630, p. 284-287 4 p.

Research output: Contribution to journalArticle

Usher Syndromes
Lod Score
Genetic Linkage
Retinitis Pigmentosa
Chromosome Mapping