Xue Z Liu

Professor

  • 6427 Citations
1993 …2023
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Research Output 1993 2019

1993
20 Citations (Scopus)

Prevalence and aetiology of profound deafness in the general population of Sichuan, China

Liu, X. Z., Xu, L., Zhang, S. & Xu, Y., Jan 1 1993, In : Journal of Laryngology and Otology. 107, 11, p. 990-993 4 p.

Research output: Contribution to journalArticle

Deafness
China
Population
Communicable Diseases
Asphyxia
1994
152 Citations (Scopus)

A gene for Waardenburg syndrome type 2 maps close to the human homologue of the microphthalmia gene at chromosome 3p12-p14.1

Hughes, A. E., Newton, V. E., Liu, X. Z. & Read, A. P., Aug 1 1994, In : Nature Genetics. 7, 4, p. 509-512 4 p.

Research output: Contribution to journalArticle

Waardenburg Syndrome
Microphthalmos
Genetic Recombination
Chromosomes
Lod Score
10 Citations (Scopus)

Audiometric configuration in non-syndromic genetic hearing loss

Liu, X. Z., Xu, L. & Newton, V., Jan 1 1994, In : Journal of Audiological Medicine. 3, 2, p. 99-106 8 p.

Research output: Contribution to journalArticle

Hearing Loss
Deafness
Counseling
14 Citations (Scopus)

Epidemiological and genetic studies of congenital profound deafness in the general population of Sichuan, China

Liu, X. Z., Xu, L., Zhang, S. & Xu, Y., Nov 7 1994, In : American Journal of Medical Genetics. 53, 2, p. 192-195 4 p.

Research output: Contribution to journalArticle

Deafness
Epidemiologic Studies
China
Population
Birth Order
74 Citations (Scopus)

Nonsyndromic hearing loss: An analysis of audiograms

Liu, X. Z. & Xu, L., Jan 1 1994, In : Annals of Otology, Rhinology and Laryngology. 103, 6, p. 428-433 6 p.

Research output: Contribution to journalArticle

Hearing Loss
Nonsyndromic Deafness
Counseling
3 Citations (Scopus)

The association of sensorineural hearing loss and pigmentation abnormalities in Waardenburg Syndrome

Newton, V. E., Liu, X. Z. & Read, A., Jan 1 1994, In : Journal of Audiological Medicine. 3, 2, p. 69-77 9 p.

Research output: Contribution to journalArticle

Waardenburg Syndrome
Sensorineural Hearing Loss
Pigmentation
Bilateral Hearing Loss
Hearing Loss
1995
10 Citations (Scopus)

Hearing loss and pigmentary disturbances in Waardenburg syndrome with reference to WS Type II

Liu, X. Z., Newton, V. & Read, A., Jan 1 1995, In : Journal of Laryngology and Otology. 109, 2, p. 96-100 5 p.

Research output: Contribution to journalArticle

Waardenburg Syndrome
Hearing Loss
Pigmentation Disorders
Hearing
Penetrance
165 Citations (Scopus)

The mutational spectrum in waardenburg syndrome

Tassabehji, M., Newton, V. E., Liu, X. Z., Brady, A., Donnai, D., Krajewska-Walasek, M., Murday, V., Norman, A., Obersztyn, E., Reardon, W., Rice, J. C., Trembath, R., Wieacker, P., Whiteford, M., Winter, R. & Read, A. P., Jan 1 1995, In : Human Molecular Genetics. 4, 11, p. 2131-2137 7 p.

Research output: Contribution to journalArticle

Waardenburg Syndrome
Mutation
Genes
Pathology
Amino acids
124 Citations (Scopus)

Waardenburg syndrome type II: Phenotypic findings and diagnostic criteria

Liu, X. Z., Newton, V. E. & Read, A. P., Feb 28 1995, In : American Journal of Medical Genetics. 55, 1, p. 95-100 6 p.

Research output: Contribution to journalArticle

Waardenburg Syndrome
Sensorineural Hearing Loss
Hearing Loss
Genes
Chromosomes
1997
241 Citations (Scopus)

Autosomal dominant non-syndromic deafness caused by a mutation in the myosin VIIA gene.

Liu, X. Z., Walsh, J., Tamagawa, Y., Kitamura, K., Nishizawa, M., Steel, K. P. & Brown, S. D., Nov 1 1997, In : Nature Genetics. 17, 3, p. 268-269 2 p.

Research output: Contribution to journalArticle

Dominant Genes
Single-Stranded Conformational Polymorphism
Sequence Deletion
Deafness
Myosins
12 Citations (Scopus)

Distortion product emissions in normal-hearing and low-frequency hearing loss carriers of genes for Waardenburg's syndrome

Liu, X. Z., Harwell, E. & Newton, V. E., Jan 1 1997, In : Annals of Otology, Rhinology and Laryngology. 106, 3, p. 220-225 6 p.

Research output: Contribution to journalArticle

Waardenburg Syndrome
Hearing Loss
Hearing
Genes
Inner Ear
28 Citations (Scopus)

Identification of a new mutation of the myosin VII head region in usher syndrome type 1

Liu, X. Z., Newton, V. E., Steel, K. P. & Brown, S. D. M., Aug 19 1997, In : Human Mutation. 10, 2, p. 168-170 3 p.

Research output: Contribution to journalArticle

Diseases in Twins
Nucleic Acid Heteroduplexes
Usher Syndromes
Single-Stranded Conformational Polymorphism
Frameshift Mutation
339 Citations (Scopus)

Mutations in the myosin VIIA gene cause non-syndromic recessive deafness

Liu, X. Z., Walsh, J., Mburu, P., Kendrick-Jones, J., Cope, M. J. T. V., Steel, K. P. & Brown, S. D. M., Jun 19 1997, In : Nature Genetics. 16, 2, p. 188-190 3 p.

Research output: Contribution to journalArticle

Deafness
Myosins
Mutation
Genes
Hearing Loss
75 Citations (Scopus)

Myosin VIIA gene: Heterogeneity of the mutations responsible for Usher syndrome type IB

Lévy, G., Levi-Acobas, F., Blanchard, S., Gerber, S., Larget-Piet, D., Chenal, V., Liu, X. Z., Newton, V., Steel, K. P., Brown, S. D. M., Munnich, A., Kaplan, J., Petit, C. & Weil, D., Jan 1 1997, In : Human Molecular Genetics. 6, 1, p. 111-116 6 p.

Research output: Contribution to journalArticle

Usher Syndromes
Myosins
Mutation
Genes
Retinitis Pigmentosa
1998
87 Citations (Scopus)

Mutations in the myosin VIAA gene cause a wide phenotypic spectrum, including atypical usher syndrome [5]

Liu, X. Z., Hope, C., Walsh, J., Newton, V., Xiao Mei Ke, M. K., Chuan Yu Liang, Y. L., Li Ron Xu, R. X., Jiu Mu Zhou, M. Z., Trump, D., Steel, K. P., Bundey, S. & Brown, S. D. M., Dec 1 1998, In : American Journal of Human Genetics. 63, 3, p. 909-912 4 p.

Research output: Contribution to journalArticle

Usher Syndromes
Retinitis Pigmentosa
Deafness
Pedigree
Myosins
1999
59 Citations (Scopus)

A mutation (2314delG) in the usher syndrome type IIA gene: High prevalence and phenotypic variation [4]

Liu, X. Z., Hope, C., Chuan Yu Liang, Y. L., Jiu Mu Zou, M. Z., Li Rong Xu, R. X., Cole, T., Mueller, R. F., Bundey, S., Nance, W., Steel, K. P. & Brown, S. D. M., Dec 1 1999, In : American Journal of Human Genetics. 64, 4, p. 1221-1225 5 p.

Research output: Contribution to journalArticle

Mutation
Genes
Type 2A Usher syndrome
10 Citations (Scopus)

Evaluation of the use of a questionnaire to detect hearing loss in babies in China

Newton, V. E., Liu, X. Z., Ke, X., Xu, L. & Bamford, J. M., May 5 1999, In : International Journal of Pediatric Otorhinolaryngology. 48, 2, p. 125-129 5 p.

Research output: Contribution to journalArticle

Hearing Loss
China
Otitis Media with Effusion
Hearing
Audiometry
2000
340 Citations (Scopus)

A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C

Verpy, E., Leibovici, M., Zwaenepoel, I., Liu, X. Z., Gal, A., Salem, N., Mansour, A., Blanchard, S., Kobayashi, I., Keats, B. J. B., Slim, R. & Petit, C., Sep 1 2000, In : Nature Genetics. 26, 1, p. 51-55 5 p.

Research output: Contribution to journalArticle

PDZ Domains
Inner Ear
Usher Syndromes
Genes
Minisatellite Repeats
235 Citations (Scopus)

A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies the Usher type 1C gene

Bitner-Glindzicz, M., Lindley, K. J., Rutland, P., Blaydon, D., Smith, V. V., Milla, P. J., Hussain, K., Furth-Lavi, J., Cosgrove, K. E., Shepherd, R. M., Barnes, P. D., O'Brien, R. E., Farndon, P. A., Sowden, J., Liu, X. Z., Scanlan, M. J., Malcolm, S., Dunne, M. J., Aynsley-Green, A. & Glaser, B., Sep 1 2000, In : Nature Genetics. 26, 1, p. 56-60 5 p.

Research output: Contribution to journalArticle

Recessive Genes
Gene Deletion
Hyperinsulinism
Deafness
Congenital Hyperinsulinism
155 Citations (Scopus)

Mutations in connexin31 underlie recessive as well as dominant non-syndromic hearing loss

Liu, X. Z., Xia, X. J., Xu, L. R., Pandya, A., Liang, C. Y., Blanton, S. H., Brown, S. D. M., Steel, K. P. & Nance, W. E., Mar 23 2000, In : Human Molecular Genetics. 9, 1, p. 63-67 5 p.

Research output: Contribution to journalArticle

Hearing Loss
Mutation
Isoleucine
Gap Junctions
Deafness
53 Citations (Scopus)

Relation between choice of partner and high frequency of connexin-26 deafness

Nance, W. E., Liu, X. Z. & Pandya, A., Aug 5 2000, In : Lancet. 356, 9228, p. 500-501 2 p.

Research output: Contribution to journalArticle

Deafness
Marriage
Population
Genotype
Mutation

Sensorineural hearing impairment: non-syndromic, recessive DFNB2.

Liu, X. Z. & Brown, S. D., Oct 2 2000, In : Advances in Oto-Rhino-Laryngology. 56, p. 124-130 7 p.

Research output: Contribution to journalArticle

Recessive Genes
Dyneins
Sensorineural Hearing Loss
Chromosome Mapping
Myosins
2001
57 Citations (Scopus)

Connexin 26 (GJB2) mutations in the Turkish population: Implications for the origin and high frequency of the 35delG mutation in Caucasians

Tekin, M., Akar, N., Cin, Ş., Blanton, S. H., Xia, X. J., Liu, X. Z., Nance, W. E. & Pandya, A., Jun 11 2001, In : Human Genetics. 108, 5, p. 385-389 5 p.

Research output: Contribution to journalArticle

Mutation Rate
Mutation
Deafness
Population
Founder Effect
37 Citations (Scopus)

Epidemiological studies on hearing impairment with reference to genetic factors in Sichuan, China

Liu, X. Z., Li Rong Xu, R. X., Sismanis, A., Hu, Y., Si Ling Zhang, L. Z., Nance, W. E. & Xu, Y., Apr 28 2001, In : Annals of Otology, Rhinology and Laryngology. 110, 4, p. 356-363 8 p.

Research output: Contribution to journalArticle

Hearing Loss
Epidemiologic Studies
China
Otitis Media
Hearing
20 Citations (Scopus)

Haplotype analysis of the USH1D locus and genotype-phenotype correlations

Liu, X. Z., Blanton, S. H., Bitner-Glindzicz, M., Pandya, A., Landa, B., MacArdle, B., Rajput, K., Bellman, S., Webb, B. T., Ping, X., Smith, R. J. H. & Nance, W. E., Aug 6 2001, In : Clinical Genetics. 60, 1, p. 58-62 5 p.

Research output: Contribution to journalArticle

Genetic Association Studies
Usher Syndromes
Haplotypes
Founder Effect
Mutation
109 Citations (Scopus)

Mutations in GJA1 (connexin 43) are associated with non-syndromic autosomal recessive deafness

Liu, X. Z., Xia, X. J., Adams, J., Chen, Z. Y., Welch, K. O., Tekin, M., Ouyang, X. M., Kristiansen, A., Pandya, A., Balkany, T., Arnos, K. S. & Nance, W. E., Dec 1 2001, In : Human Molecular Genetics. 10, 25, p. 2945-2951 7 p.

Research output: Contribution to journalArticle

Connexin 43
Cochlea
Deafness
Mutation
Connexins
18 Citations (Scopus)

W44C mutation in the connexin 26 gene associated with dominant non-syndromic deafness

Tekin, M., Arnos, K. S., Xia, X. J., Oelrich, M. K., Liu, X. Z., Nance, W. E. & Pandya, A., Apr 28 2001, In : Clinical Genetics. 59, 4, p. 269-273 5 p.

Research output: Contribution to journalArticle

Deafness
Mutation
Genes
Hearing Loss
France
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
7 Citations (Scopus)

The clinical presentation of DFNB2.

Liu, X. Z., Oct 31 2002, In : Advances in Oto-Rhino-Laryngology. 61, p. 120-123 4 p.

Research output: Contribution to journalArticle

Auditory Threshold
Acoustic Reflex
Pure-Tone Audiometry
Dyneins
Retinitis Pigmentosa
134 Citations (Scopus)

The prevalence of connexin 26 (GJB2) mutations in the Chinese population

Liu, X. Z., Xia, X. J., Ke, X. M., Ouyang, X. M., Du, L. L., Liu, Y. H., Angeli, S. I., Telischi, F. F., Nance, W. E., Balkany, T. & Xu, L. R., Oct 1 2002, In : Human Genetics. 111, 4-5, p. 394-397 4 p.

Research output: Contribution to journalArticle

Mutation
Population
Deafness
Connexin 26
Alleles
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
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
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
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