Xue Z Liu

Professor

  • 6427 Citations
1993 …2023
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Research Output 1993 2019

2010
37 Citations (Scopus)

Antioxidant enzymes, presbycusis, and ethnic variability

Bared, A., Ouyang, X., Angeli, S. I., Du, L. L., Hoang, K., Yan, D. & Liu, X. Z., Aug 1 2010, In : Otolaryngology - Head and Neck Surgery. 143, 2, p. 263-268 6 p.

Research output: Contribution to journalArticle

Presbycusis
Antioxidants
Genotype
Enzymes
Acetyltransferases
32 Citations (Scopus)

A Truncating Mutation in SERPINB6 Is Associated with Autosomal-Recessive Nonsyndromic Sensorineural Hearing Loss

Sirmaci, A., Erbek, S., Price, J., Huang, M., Duman, D., Cengiz, F. B., Bademci, G., Tokgöz-Yilmaz, S., Hişmi, B., Özdaǧ, H., Öztürk, B., Kulaksizoǧlu, S., Yildirim, E., Kokotas, H., Grigoriadou, M., Petersen, M. B., Shahin, H., Kanaan, M., King, M. C., Chen, Z. Y. & 5 others, Blanton, S. H., Liu, X. Z., Zuchner, S. L., Akar, N. & Tekin, M., May 14 2010, In : American Journal of Human Genetics. 86, 5, p. 797-804 8 p.

Research output: Contribution to journalArticle

Hearing Loss
Deafness
Inner Ear
Inner Auditory Hair Cells
Mutation
23 Citations (Scopus)

Cochlear implantation in common forms of genetic deafness

Vivero, R. J., Fan, K., Angeli, S. I., Balkany, T. J. & Liu, X. Z., Oct 1 2010, In : International Journal of Pediatric Otorhinolaryngology. 74, 10, p. 1107-1112 6 p.

Research output: Contribution to journalArticle

Cochlear Implantation
Deafness
Hearing Loss
Cochlear Implants
Spiral Ganglion
108 Citations (Scopus)

Genetics and pathological mechanisms of Usher syndrome

Yan, D. & Liu, X. Z., Jun 1 2010, In : Journal of Human Genetics. 55, 6, p. 327-335 9 p.

Research output: Contribution to journalArticle

Usher Syndromes
Proteins
Inborn Genetic Diseases
Molecular Models
Retinitis Pigmentosa
6 Citations (Scopus)

Impaired membrane targeting and aberrant cellular localization of human Cx26 mutants associated with inherited recessive hearing loss

Xiao, Z., Yang, Z., Liu, X. Z. & Xie, D., Jan 1 2010, In : Acta Oto-Laryngologica. 131, 1, p. 59-66 8 p.

Research output: Contribution to journalArticle

Hearing Loss
Gap Junctions
Coloring Agents
Membranes
HeLa Cells
61 Citations (Scopus)

Loss-of-Function Mutations in the PRPS1 Gene Cause a Type of Nonsyndromic X-linked Sensorineural Deafness, DFN2

Liu, X. Z., Han, D., Li, J., Han, B., Ouyang, X., Cheng, J., Li, X., Jin, Z., Wang, Y., Bitner-Glindzicz, M., Kong, X., Xu, H., Kantardzhieva, A., Eavey, R. D., Seidman, C. E., Seidman, J. G., Du, L. L., Chen, Z. Y., Dai, P., Teng, M. & 2 others, Yan, D. & Yuan, H., Jan 6 2010, In : American Journal of Human Genetics. 86, 1, p. 65-71 7 p.

Research output: Contribution to journalArticle

Deafness
Mutation
Ribose-Phosphate Pyrophosphokinase
Vestibular Hair Cells
Genes
1 Citation (Scopus)

Mitochondrial DNA mutation screening in South Florida

Vivero, R. J., Ouyang, X., Yan, D., Angeli, S. I. & Liu, X. Z., Oct 1 2010, In : Laryngoscope. 120, SUPPL. 3

Research output: Contribution to journalArticle

Mitochondrial DNA
Mutation
RNA, Transfer, Ser
Polymerase Chain Reaction
Tertiary Healthcare
15 Citations (Scopus)

Modifiers of hearing impairment in humans and mice

Yan, D. & Liu, X. Z., Jun 23 2010, In : Current Genomics. 11, 4, p. 269-278 10 p.

Research output: Contribution to journalArticle

Hearing Loss
Modifier Genes
Penetrance
Genes
Genotype
32 Citations (Scopus)

Recurrent and private MYO15A mutations are associated with deafness in the Turkish population

Cengiz, F. B., Duman, D., Sirmaci, A., Tokgöz-Yilmaz, S., Erbek, S., Öztürkmen-Akay, H., Incesulu, A., Edwards, Y. J. K., Özdag, H., Liu, X. Z. & Tekin, M., Aug 1 2010, In : Genetic Testing and Molecular Biomarkers. 14, 4, p. 543-550 8 p.

Research output: Contribution to journalArticle

Deafness
Mutation
Population
Founder Effect
Sensorineural Hearing Loss
18 Citations (Scopus)

Ush1c gene expression levels in the ear and eye suggest different roles for Ush1c in neurosensory organs in a new Ush1c knockout mouse

Tian, C., Liu, X. Z., Han, F., Yu, H., Longo-Guess, C., Yang, B., Lu, C., Yan, D. & Zheng, Q. Y., Apr 30 2010, In : Brain Research. 1328, p. 57-70 14 p.

Research output: Contribution to journalArticle

Knockout Mice
Ear
Gene Expression
Usher Syndromes
Reporter Genes
2009
62 Citations (Scopus)

Digenic inheritance of non-syndromic deafness caused by mutations at the gap junction proteins Cx26 and Cx31

Liu, X. Z., Yuan, Y., Yan, D., Ding, E. H., Ouyang, X. M., Fei, Y., Tang, W., Yuan, H., Chang, Q., Du, L. L., Zhang, X., Wang, G., Ahmad, S., Kang, D. Y., Lin, X. & Dai, P., Jan 1 2009, In : Human Genetics. 125, 1, p. 53-62 10 p.

Research output: Contribution to journalArticle

Connexins
Deafness
Mutation
Cochlea
Hearing Loss
136 Citations (Scopus)

GJB2 mutation spectrum in 2063 Chinese patients with nonsyndromic hearing impairment

Dai, P., Yu, F., Han, B., Liu, X. Z., Wang, G., Li, Q., Yuan, Y., Liu, X., Huang, D., Kang, D., Zhang, X., Yuan, H., Yao, K., Hao, J., He, J., He, Y., Wang, Y., Ye, Q., Yu, Y., Lin, H. & 19 others, Liu, L., Deng, W., Zhu, X., You, Y., Cui, J., Hou, N., Xu, X., Zhang, J., Tang, L., Song, R., Lin, Y., Sun, S., Zhang, R., Wu, H., Ma, Y., Zhu, S., Wu, B. L., Han, D. & Wong, L. J. C., Apr 14 2009, In : Journal of Translational Medicine. 7, 26.

Research output: Contribution to journalArticle

Audition
Mutation
Alleles
Genes
China
5 Citations (Scopus)

Imaging correlation of children with DFNB1 vs non-DFNB1 hearing loss

Kochhar, A., Angeli, S. I., Dave, S. P. & Liu, X. Z., May 1 2009, In : Otolaryngology - Head and Neck Surgery. 140, 5, p. 665-669 5 p.

Research output: Contribution to journalArticle

Hearing Loss
Temporal Bone
Vestibular Aqueduct
Semicircular Canals
Deafness
20 Citations (Scopus)

Mutation analysis in the long isoform of USH2A in American patients with Usher Syndrome type II

Yan, D., Ouyang, X., Patterson, D. M., Du, L. L., Jacobson, S. G. & Liu, X. Z., Dec 1 2009, In : Journal of Human Genetics. 54, 12, p. 732-738 7 p.

Research output: Contribution to journalArticle

Usher Syndromes
Protein Isoforms
Mutation
Exons
Alleles
19 Citations (Scopus)

Mutation analysis of SLC26A4 in mainland Chinese patients with enlarged vestibular aqueduct

Reyes, S., Wang, G., Ouyang, X., Han, B., Du, L. L., Yuan, H. J., Yan, D., Dai, P. & Liu, X. Z., Oct 1 2009, In : Otolaryngology - Head and Neck Surgery. 141, 4, p. 502-508 7 p.

Research output: Contribution to journalArticle

Mutation
Hearing Loss
Enlarged Vestibular Aqueduct
Sensorineural Hearing Loss
Otolaryngology
36 Citations (Scopus)

Phenotypic variability of patients homozygous for the GJB2 mutation 35delG cannot be explained by the influence of one major modifier gene

Hilgert, N., Huentelman, M. J., Thorburn, A. Q., Fransen, E., Dieltjens, N., Mueller-Malesinska, M., Pollak, A., Skorka, A., Waligora, J., Ploski, R., Castorina, P., Primignani, P., Ambrosetti, U., Murgia, A., Orzan, E., Pandya, A., Arnos, K., Norris, V., Seeman, P., Janousek, P. & 37 others, Feldmann, D., Marlin, S., Denoyelle, F., Nishimura, C. J., Janecke, A., Nekahm-Heis, D., Martini, A., Mennucci, E., Tóth, T., Sziklai, I., del Castillo, I., Moreno, F., Petersen, M. B., Iliadou, V., Tekin, M., Incesulu, A., Nowakowska, E., Bal, J., Van de Heyning, P., Roux, A. F., Blanchet, C., Goizet, C., Lancelot, G., Fialho, G., Caria, H., Liu, X. Z., Xiaomei, O., Govaerts, P., Grønskov, K., Hostmark, K., Frei, K., Dhooge, I., Vlaeminck, S., Kunstmann, E., Van Laer, L., Smith, R. J. H. & Van Camp, G., Mar 27 2009, In : European Journal of Human Genetics. 17, 4, p. 517-524 8 p.

Research output: Contribution to journalArticle

Modifier Genes
Single Nucleotide Polymorphism
Hearing Loss
Mutation
Genome-Wide Association Study
36 Citations (Scopus)

The genetic bases for non-syndromic hearing loss among Chinese

Ouyang, X. M., Yan, D., Yuan, H. J., Pu, D., Du, L. L., Han, D. Y. & Liu, X. Z., Mar 1 2009, In : Journal of Human Genetics. 54, 3, p. 131-140 10 p.

Research output: Contribution to journalArticle

Deafness
Hearing Loss
Population
Genes
Molecular Biology
2008
25 Citations (Scopus)

Audiological and genetic features of the mtDNA mutations

Liu, X. Z., Angeli, S. I., Ouyang, X. M., Liu, W., Ke, X. M., Liu, Y. H., Liu, S. X., Du, L. L., Deng, X. W., Yuan, H. & Yan, D., Jul 1 2008, In : Acta Oto-Laryngologica. 128, 7, p. 732-738 7 p.

Research output: Contribution to journalArticle

Mitochondrial DNA
Mutation
Aminoglycosides
Hearing Loss
China
1 Citation (Scopus)

Audiological and genetic studies on large families with non-syndromic deafness

Liu, X. Z., Ouyang, X. M., Du, L. L., Ke, X. M., Pu, X. K., Linag, C. Y., Liu, Y. H., Liu, S. X., Guan, M. X., Angeli, S. I. & Yan, D., Sep 18 2008, In : Audiological Medicine. 6, 3, p. 208-214 7 p.

Research output: Contribution to journalArticle

Deafness
Hearing Loss
Genetic Heterogeneity
Mutation
Genes
33 Citations (Scopus)

Cochlear implantation in individuals with Usher type 1 syndrome

Liu, X. Z., Angeli, S. I., Rajput, K., Yan, D., Hodges, A. V., Eshraghi, A., Telischi, F. F. & Balkany, T. J., Jun 1 2008, In : International Journal of Pediatric Otorhinolaryngology. 72, 6, p. 841-847 7 p.

Research output: Contribution to journalArticle

Usher Syndromes
Cochlear Implantation
Mutation
Cochlear Implants
Lipreading
29 Citations (Scopus)

Cochlear molecules and hereditary deafness

Yan, D. & Liu, X. Z., May 5 2008, In : Frontiers in Bioscience. 13, 13, p. 4972-4983 12 p.

Research output: Contribution to journalArticle

Cochlea
Deafness
Genes
Hearing Loss
Audition
17 Citations (Scopus)

Novel mutations in the vWFA2 domain of COCH in two Chinese DFNA9 families [3]

Yuan, H. J., Han, D. Y., Sun, Q., Yan, D., Sun, H. J., Tao, R., Cheng, J., Qin, C., Angeli, S. I., Ouyang, X. M., Yang, S. Z., Feng, L., Cao, J. Y., Feng, G. Y., Wang, Y. F., Dai, P., Zhai, S. Q., Yang, W. Y., He, L. & Liu, X. Z., Apr 1 2008, In : Clinical Genetics. 73, 4, p. 391-394 4 p.

Research output: Contribution to journalArticle

Molecular Sequence Data
Dominant Genes
Sensorineural Hearing Loss
Tertiary Protein Structure
Age of Onset
53 Citations (Scopus)

Retinal disease in Usher syndrome III caused by mutations in the clarin-1 gene

Herrera, W., Aleman, T. S., Cideciyan, A. V., Roman, A. J., Banin, E., Ben-Yosef, T., Gardner, L. M., Sumaroka, A., Windsor, E. A. M., Schwartz, S. B., Stone, E. M., Liu, X. Z., Kimberling, W. J. & Jacobson, S. G., Jun 1 2008, In : Investigative Ophthalmology and Visual Science. 49, 6, p. 2651-2660 10 p.

Research output: Contribution to journalArticle

Usher Syndromes
Retinal Diseases
Mutation
Vertebrate Photoreceptor Cells
Genes
73 Citations (Scopus)

Usher syndromes due to MYO7A, PCDH15, USH2A or GPR98 mutations share retinal disease mechanism

Jacobson, 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., Aug 1 2008, In : Human Molecular Genetics. 17, 15, p. 2405-2415 11 p.

Research output: Contribution to journalArticle

Usher Syndromes
Retinal Diseases
Retinal Pigment Epithelium
Mutation
Phenotype
2007
167 Citations (Scopus)

Ageing and hearing loss

Liu, X. Z. & Yan, D., Jan 1 2007, In : Journal of Pathology. 211, 2, p. 188-197 10 p.

Research output: Contribution to journalArticle

Hearing Loss
Hearing
Inner Ear
Modifier Genes
Intrinsic Factor
27 Citations (Scopus)

A novel DFNA5 mutation, IVS8+4 A>G, in the splice donor site of intron 8 causes late-onset non-syndromic hearing loss in a Chinese family

Cheng, A. B., Han, D. Y., Dai, P., Sun, H. J., Tao, R., Sun, Q., Yan, D., Qin, C., Wang, H. Y., Ouyang, X. M., Yang, S. Z., Cao, J. Y., Feng, G. Y., Du, L. L., Zhang, Y. Z., Zhai, S. Q., Yang, W. Y., Liu, X. Z., He, L. & Yuan, H. J., Nov 1 2007, In : Clinical Genetics. 72, 5, p. 471-477 7 p.

Research output: Contribution to journalArticle

RNA Splice Sites
Hearing Loss
Introns
Mutation
Exons
9 Citations (Scopus)
Uniparental Disomy
Chromosomes, Human, Pair 13
Connexins
Sequence Deletion
Homozygote
25 Citations (Scopus)

Performance after cochlear implantation in DFNB1 patients

Connell, S. S., Angeli, S. I., Suarez, H., Hodges, A. V., Balkany, T. J. & Liu, X. Z., Oct 1 2007, In : Otolaryngology - Head and Neck Surgery. 137, 4, p. 596-602 7 p.

Research output: Contribution to journalArticle

Cochlear Implantation
Cochlear Implants
Speech Perception
Language Tests
Language Development
2006
20 Citations (Scopus)

An isoform of GTPase regulator DOCK4 localizes to the stereocilia in the inner ear and binds to harmonin (USH1C)

Yan, D., Li, F., Hall, M. L., Sage, C., Hu, W. H., Giallourakis, C., Upadhyay, G., Ouyang, X. M., Du, L. L., Bethea, J. R., Chen, Z. Y., Yajnik, V. & Liu, X. Z., Mar 31 2006, In : Journal of Molecular Biology. 357, 3, p. 755-764 10 p.

Research output: Contribution to journalArticle

Stereocilia
Microfilament Proteins
rho GTP-Binding Proteins
GTP Phosphohydrolases
Inner Ear
7 Citations (Scopus)

A novel locus for autosomal dominant non-syndromic deafness, DFNA53, maps to chromosome 14q11.2-q12

Yan, D., Ke, X., Blanton, S. H., Ouyang, X. M., Pandya, A., Du, L. L., Nance, W. E. & Liu, X. Z., Feb 1 2006, In : Journal of Medical Genetics. 43, 2, p. 170-174 5 p.

Research output: Contribution to journalArticle

Deafness
Chromosomes
Chromosomes, Human, Pair 14
Hearing Loss
High-Frequency Hearing Loss
2005
79 Citations (Scopus)

Assessment of the genetic causes of recessive childhood non-syndromic deafness in the UK - Implications for genetic testing

Hutchin, T., Coy, N. N., Conlon, H., Telford, E., Bromelow, K., Blaydon, D., Taylor, G., Coghill, E., Brown, S., Trembath, R., Liu, X. Z., Bitner-Glindzicz, M. & Mueller, R., Dec 1 2005, In : Clinical Genetics. 68, 6, p. 506-512 7 p.

Research output: Contribution to journalArticle

Genetic Testing
Deafness
Genes
Hearing Loss
Mutation
37 Citations (Scopus)

Audiological features of GJB2 (Connexin 26) deafness

Liu, X. Z., Pandya, A., Angeli, S. I., Telischi, F. F., Arnos, K. S., Nance, W. E. & Balkany, T., Jun 1 2005, In : Ear and Hearing. 26, 3, p. 361-369 9 p.

Research output: Contribution to journalArticle

Deafness
Hearing Loss
Mutation
Chi-Square Distribution
Connexin 26
81 Citations (Scopus)

Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population

Ouyang, X. M., Yan, D., Du, L. L., Hejtmancik, J. F., Jacobson, S. G., Nance, W. E., Li, A. R., Angeli, S. I., Kaiser, M., Newton, V., Brown, S. D. M., Balkany, T. & Liu, X. Z., Mar 1 2005, In : Human Genetics. 116, 4, p. 292-299 8 p.

Research output: Contribution to journalArticle

Usher Syndromes
Mutation
Population
Genes
Alleles
17 Citations (Scopus)
Ubiquinone
Mitochondrial DNA
Hearing Loss
Sensorineural Hearing Loss
Mutation
89 Citations (Scopus)

Digenic inheritance of deafness caused by mutations in genes encoding cadherin 23 and protocadherin 15 in mice and humans

Zheng, Q. Y., Yan, D., Ouyang, X. M., Du, L. L., Yu, H., Chang, B., Johnson, K. R. & Liu, X. Z., Jan 1 2005, In : Human Molecular Genetics. 14, 1, p. 103-111 9 p.

Research output: Contribution to journalArticle

Deafness
Cadherins
Hearing Loss
Stereocilia
Mutation
46 Citations (Scopus)

Disease expression in Usher syndrome caused by VLGR1 gene mutation (USH2C) and comparison with USH2A phenotype

Schwartz, S. B., Aleman, T. S., Cideciyan, A. V., Windsor, E. A. M., Sumaroka, A., Roman, A. J., Rane, T., Smilko, E. E., Bennett, J., Stone, E. M., Kimberling, W. J., Liu, X. Z. & Jacobson, S. G., Feb 1 2005, In : Investigative Ophthalmology and Visual Science. 46, 2, p. 734-743 10 p.

Research output: Contribution to journalArticle

Usher Syndromes
Vertebrate Photoreceptor Cells
Visual Field Tests
Phenotype
Mutation
14 Citations (Scopus)

Etiologic diagnosis of sensorineural hearing loss in adults

Angeli, S. I., Yan, D., Telischi, F. F., Balkany, T. J., Ouyang, X. M., Du, L. L., Eshraghi, A., Goodwin, L. & Liu, X. Z., Jun 1 2005, In : Otolaryngology - Head and Neck Surgery. 132, 6, p. 890-895 6 p.

Research output: Contribution to journalArticle

Sensorineural Hearing Loss
Mitochondrial DNA
Otosclerosis
Mutation
Cochlea
11 Citations (Scopus)

Refinement of the DFNA41 locus and candidate genes analysis

Yan, D., Ouyang, X. M., Zhu, X., Du, L. L., Chen, Z. Y. & Liu, X. Z., Oct 1 2005, In : Journal of Human Genetics. 50, 10, p. 516-522 7 p.

Research output: Contribution to journalArticle

Genetic Association Studies
Single Nucleotide Polymorphism
Haplotypes
Genes
Deafness
2004
121 Citations (Scopus)

Cosegregation of C-Insertion at Position 961 with the A1555G Mutation of the Mitochondrial 12S rRNA Gene in a Large Chinese Family with Maternally Inherited Hearing Loss

Li, R., Xing, G., Yan, M., Cao, X., Liu, X. Z., Bu, X. & Guan, M. X., Jan 15 2004, In : American Journal of Medical Genetics. 124 A, 2, p. 113-117 5 p.

Research output: Contribution to journalArticle

rRNA Genes
Hearing Loss
Mutation
Age of Onset
Mitochondrial Genome

Erratum: Mutational spectrum in usher syndrome type II (Clinical Genetics (2004) vol. 65 (4) (288-293))

Ouyang, X. M., Yan, D., Hejtmancik, J. F., Jacobson, S. G., Li, A. R., Du, L. L., Angeli, S. I., Kaiser, M., Balkany, T. & Liu, X. Z., May 1 2004, In : Clinical Genetics. 65, 5

Research output: Contribution to journalArticle

20 Citations (Scopus)

Mutational spectrum in Usher syndrome type II

Ouyang, X. M., Yan, D., Hejtmancik, J. F., Jacobcon, S. G., Li, A. R., Du, L. L., Angeli, S. I., Kaiser, M., Balkany, T. & Liu, X. Z., Apr 1 2004, In : Clinical Genetics. 65, 4, p. 288-293 6 p.

Research output: Contribution to journalArticle

Usher Syndromes
Mutation
Alleles
Retinitis Pigmentosa
Homozygote
2003
217 Citations (Scopus)

Defects in whirlin, a PDZ domain molecule involved in stereocilia elongation, cause deafness in the whirler mouse and families with DFNB31

Mburu, P., Mustapha, M., Varela, A., Weil, D., El-Amraoui, A., Holme, R. H., Rump, A., Hardisty, R. E., Blanchard, S., Coimbra, R. S., Perfettini, I., Parkinson, N., Mallon, A. M., Glenister, P., Rogers, M. J., Paige, A. J., Moir, L., Clay, J., Rosenthal, A., Liu, X. Z. & 4 others, Blanco, G., Steel, K. P., Petit, C. & Brown, S. D. M., Aug 1 2003, In : Nature Genetics. 34, 4, p. 421-428 8 p.

Research output: Contribution to journalArticle

Stereocilia
PDZ Domains
Outer Auditory Hair Cells
Inner Auditory Hair Cells
Deafness
86 Citations (Scopus)

Evidence of a founder effect for the 235delC mutation of GJB2 (connexin 26) in east Asians

Yan, D., Park, H. J., Ouyang, X. M., Pandya, A., Doi, K., Erdenetungalag, R., Du, L. L., Matsushiro, N., Nance, W. E., Griffith, A. J. & Liu, X. Z., Dec 1 2003, In : Human Genetics. 114, 1, p. 44-50 7 p.

Research output: Contribution to journalArticle

Founder Effect
Mutation
Haplotypes
Linkage Disequilibrium
Deafness
118 Citations (Scopus)

Frequency and distribution of GJB2 (connexin 26) and GJBG (connexin 30) mutations in a large North American repository of deaf probands

Pandya, A., Arnos, K. S., Xia, X. J., Welch, K. O., Blanton, S. H., Friedman, T. B., Garcia Sanchez, G., Liu, X. Z., Morell, R. & Nance, W. E., Jul 1 2003, In : Genetics in Medicine. 5, 4, p. 295-303 9 p.

Research output: Contribution to journalArticle

Connexins
Deafness
Mutation
Hearing
Asian Americans
236 Citations (Scopus)

Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians: Global implications for the epidemiology of deafness

Park, H. J., Shaukat, S., Liu, X. Z., Hahn, S. H., Naz, S., Ghosh, M., Kim, H. N., Moon, S. K., Abe, S., Tukamoto, K., Riazuddin, S., Kabra, M., Erdenetungalag, R., Radnaabazar, J., Khan, S., Pandya, A., Usami, S. I., Nance, W. E., Wilcox, E. R., Riazuddin, S. & 1 others, Griffith, A. J., Apr 1 2003, In : Journal of Medical Genetics. 40, 4, p. 242-248 7 p.

Research output: Contribution to journalArticle

Deafness
Epidemiology
Mutation
Far East
Exons
132 Citations (Scopus)

Prestin, a cochlear motor protein, is defective in non-syndromic hearing loss

Liu, X. Z., Ouyang, X. M., Xia, X. J., Zheng, J., Pandya, A., Li, F., Du, L. L., Welch, K. O., Petit, C., Smith, R. J. H., Webb, B. T., Yan, D., Arnos, K. S., Corey, D., Dallos, P., Nance, W. E. & Chen, Z. Y., May 15 2003, In : Human Molecular Genetics. 12, 10, p. 1155-1162 8 p.

Research output: Contribution to journalArticle

Cochlea
Hearing Loss
Outer Auditory Hair Cells
Mutation
Genes
21 Citations (Scopus)

USH1C: A rare cause of USH1 in a non-Acadian population and a founder effect of the Acadian allele

Ouyang, X. M., Hejtmancik, J. F., Jacobson, S. G., Xia, X. J., Li, A., Du, L. L., Newton, V., Kaiser, M., Balkany, T., Nance, W. E. & Liu, X. Z., Feb 1 2003, In : Clinical Genetics. 63, 2, p. 150-153 4 p.

Research output: Contribution to journalArticle

Founder Effect
Alleles
Usher Syndromes
Mutation
Population
2002
27 Citations (Scopus)

A novel locus for autosomal dominant non-syndromic deafness (DFNA41) maps to chromosome 12q24-qter

Blanton, S. H., Liang, C. Y., Cai, M. W., Pandya, A., Du, L. L., Landa, B., Mummalanni, S., Li, K. S., Chen, Z. Y., Qin, X. N., Liu, Y. F., Balkany, T., Nance, W. E. & Liu, X. Z., Aug 20 2002, In : Journal of Medical Genetics. 39, 8, p. 567-570 4 p.

Research output: Contribution to journalArticle

Deafness
Hearing Loss
Chromosomes
Bilateral Hearing Loss
Lod Score
79 Citations (Scopus)

Mutations in the alternatively spliced exons of USH1C cause non-syndromic recessive deafness

Ouyang, X. M., Xia, X. J., Verpy, E., Du, L. L., Pandya, A., Petit, C., Balkany, T., Nance, W. E. & Liu, X. Z., Jul 1 2002, In : Human Genetics. 111, 1, p. 26-30 5 p.

Research output: Contribution to journalArticle

Deafness
Exons
Mutation
Inner Ear
Proline
108 Citations (Scopus)

Otoancorin, an inner ear protein restricted to the interface between the apical surface of sensory epithelia and their overlying acellular gels, is defective in autosomal recessive deafness DFNB22

Zwaenepoel, I., Mustapha, M., Leibovici, M., Verpy, E., Goodyear, R., Liu, X. Z., Nouaille, S., Nance, W. E., Kanaan, M., Avraham, K. B., Tekaia, F., Loiselet, J., Lathrop, M., Richardson, G. & Petit, C., Apr 30 2002, In : Proceedings of the National Academy of Sciences of the United States of America. 99, 9, p. 6240-6245 6 p.

Research output: Contribution to journalArticle

Inner Ear
Epithelium
Gels
Proteins
Tectorial Membrane