Xue Z Liu

Professor

  • 6427 Citations
1993 …2023
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Research Output 1993 2019

Article

Abnormal mRNA splicing but normal auditory brainstem response (ABR) in mice with the prestin (SLC26A5) IVS2-2A > G mutation

Zhang, J., Liu, Z., Chang, A., Fang, J., Men, Y., Tian, Y., Ouyang, X., Yan, D., Zhang, A., Sun, X., Tang, J., Liu, X. Z., Zuo, J. & Gao, J., Aug 1 2016, In : Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis. 790, p. 1-7 7 p.

Research output: Contribution to journalArticle

Brain Stem Auditory Evoked Potentials
Messenger RNA
Mutation
Deafness
Hearing
32 Citations (Scopus)

Absence of GJB2 gene mutations, the GJB6 deletion (GJB6-D13S1830) and four common mitochondrial mutations in nonsyndromic genetic hearing loss in a South African population

Kabahuma, R. I., Ouyang, X., Du, L. L., Yan, D., Hutchin, T., Ramsay, M., Penn, C. & Liu, X. Z., May 1 2011, In : International Journal of Pediatric Otorhinolaryngology. 75, 5, p. 611-617 7 p.

Research output: Contribution to journalArticle

Sequence Deletion
Mutation
Population
Genes
Restriction Fragment Length Polymorphisms
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
4 Citations (Scopus)

A dominant variant in the PDE1C gene is associated with nonsyndromic hearing loss

Wang, L., Feng, Y., Yan, D., Qin, L., Grati, M., Mittal, R., Li, T., Sundhari, A. K., Liu, Y., Chapagain, P., Blanton, S. H., Liao, S. & Liu, X. Z., Jun 2 2018, (Accepted/In press) In : Human Genetics. p. 1-10 10 p.

Research output: Contribution to journalArticle

Phosphoric Diester Hydrolases
Exome
Inner Auditory Hair Cells
Genes
Genetic Heterogeneity
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
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
45 Citations (Scopus)

Allelic hierarchy of CDH23 mutations causing non-syndromic deafness DFNB12 or Usher syndrome USH1D in compound heterozygotes

Schultz, J. M., Bhatti, R., Madeo, A. C., Turriff, A., Muskett, J. A., Zalewski, C. K., King, K. A., Ahmed, Z. M., Riazuddin, S., Ahmad, N., Hussain, Z., Qasim, M., Kahn, S. N., Meltzer, M. R., Liu, X. Z., Munisamy, M., Ghosh, M., Rehm, H. L., Tsilou, E. T., Griffith, A. J. & 4 others, Zein, W. M., Brewer, C. C., Riazuddin, S. & Friedman, T. B., Nov 1 2011, In : Journal of Medical Genetics. 48, 11, p. 767-775 9 p.

Research output: Contribution to journalArticle

Usher Syndromes
Deafness
Heterozygote
Alleles
Mutation

Amino acid 118 in the deafness causing (DFNA20/26) ACTG1 gene is a mutational hot spot

Wang, L., Yan, D., Qin, L., Li, T., Liu, H., Li, W., Mittal, R., Yong, F., Chapagain, P., Liao, S. & Liu, X. Z., Jun 1 2018, In : Gene Reports. 11, p. 264-269 6 p.

Research output: Contribution to journalArticle

Deafness
Hearing Loss
Amino Acids
Genes
Mutation
44 Citations (Scopus)

Amissense mutation in DCDC2 causeshuman recessive deafness DFNB66, likely by interfering with sensory hair cell and supporting cell cilia length regulation

Grati, M., Chakchouk, I., Ma, Q., Bensaid, M., Desmidt, A., Turki, N., Yan, D., Baanannou, A., Mittal, R., Driss, N., Blanton, S. H., Farooq, A., Lu, Z., Liu, X. Z. & Masmoudi, S., 2015, In : Human Molecular Genetics. 24, 9, p. 2482-2491 10 p.

Research output: Contribution to journalArticle

Cilia
Deafness
Mutation
Microtubules
Zebrafish
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)

A mutation in SLC22A4 encoding an organic cation transporter expressed in the cochlea strial endothelium causes human recessive non-syndromic hearing loss DFNB60

Ben Said, M., Grati, M., Ishimoto, T., Zou, B., Chakchouk, I., Ma, Q., Yao, Q., Hammami, B., Yan, D., Mittal, R., Nakamichi, N., Ghorbel, A., Neng, L., Tekin, M., Shi, X. R., Kato, Y., Masmoudi, S., Lu, Z., Hmani, M. & Liu, X. Z., May 1 2016, In : Human Genetics. 135, 5, p. 513-524 12 p.

Research output: Contribution to journalArticle

Cochlea
Hearing Loss
Endothelium
Cations
Mutation
11 Citations (Scopus)

Analysis of miR-376 RNA cluster members in the mouse inner ear

Yan, D., Xing, Y., Ouyang, X., Zhu, J., Chen, Z. Y., Lang, H. & Liu, X. Z., Dec 1 2012, In : International Journal of Experimental Pathology. 93, 6, p. 450-457 8 p.

Research output: Contribution to journalArticle

Ribose-Phosphate Pyrophosphokinase
Inner Ear
RNA
Stria Vascularis
Sensory Ganglia
8 Citations (Scopus)

Analysis of subcellular localization of Myo7a, Pcdh15 and Sans in Ush1c knockout mice

Yan, D., Kamiya, K., Ouyang, X. M. & Liu, X. Z., Feb 1 2011, In : International Journal of Experimental Pathology. 92, 1, p. 66-71 6 p.

Research output: Contribution to journalArticle

Stereocilia
Knockout Mice
Auditory Hair Cells
Usher Syndromes
Cochlea
20 Citations (Scopus)

A next-generation sequencing gene panel (MiamiOtoGenes) for comprehensive analysis of deafness genes

Tekin, D., Yan, D., Bademci, G., Feng, Y., Guo, S., Foster, J., Blanton, S. H., Tekin, M. & Liu, X. Z., Mar 1 2016, In : Hearing Research. 333, p. 179-184 6 p.

Research output: Contribution to journalArticle

Deafness
Hearing Loss
Genes
Exons
Databases
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
1 Citation (Scopus)

A novel ABHD12 nonsense variant in Usher syndrome type 3 family with genotype-phenotype spectrum review

Li, T., Feng, Y., Liu, Y., He, C., Liu, J., Chen, H., Deng, Y., Li, M., Li, W., Song, J., Niu, Z., Sang, S., Wen, J., Men, M., Chen, X., Li, J., Liu, X. Z. & Ling, J., Jul 1 2019, In : Gene. 704, p. 113-120 8 p.

Research output: Contribution to journalArticle

Usher Syndromes
Genotype
Phenotype
Deaf-Blind Disorders
Exome
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
8 Citations (Scopus)

A novel frameshift mutation of SMPX causes a rare form of X-linked nonsyndromic hearing loss in a Chinese family

Niu, Z., Feng, Y., Mei, L., Sun, J., Wang, X., Wang, J., Hu, Z., Dong, Y., Chen, H., He, C., Liu, Y., Cai, X., Liu, X. Z. & Jiang, L., May 1 2017, In : PLoS One. 12, 5, e0178384.

Research output: Contribution to journalArticle

frameshift mutation
Frameshift Mutation
Audition
hearing
Hearing Loss
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
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
3 Citations (Scopus)

A novel splicing mutation in SMPX is linked to nonsyndromic progressive hearing loss

Niu, Z., Yan, D., Bressler, S., Mei, L., Feng, Y. & Liu, X. Z., Jan 1 2018, In : International Journal of Pediatric Otorhinolaryngology. 104, p. 47-50 4 p.

Research output: Contribution to journalArticle

Hearing Loss
Exome
Mutation
Frameshift Mutation
Nonsense Codon
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
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
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
27 Citations (Scopus)

Association of PRPS1 Mutations with Disease Phenotypes

Mittal, R., Patel, K., Mittal, J., Chan, B., Yan, D., Grati, MH. & Liu, X. Z., 2015, In : Disease Markers. 2015, 127013.

Research output: Contribution to journalArticle

Ligases
Phenotype
Mutation
Audition
S-Adenosylmethionine
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
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
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
4 Citations (Scopus)

Audiologic and genetic features of the A3243G mtDNA mutation

Vivero, R. J., Ouyang, X., Kim, Y. G., Liu, W., Du, L., Yan, D. & Liu, X. Z., May 1 2013, In : Genetic Testing and Molecular Biomarkers. 17, 5, p. 383-389 7 p.

Research output: Contribution to journalArticle

Mitochondrial DNA
Mutation
Hearing Loss
Bilateral Hearing Loss
DNA
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
6 Citations (Scopus)

Audioprofiles and antioxidant enzyme genotypes in presbycusis

Angeli, S. I., Bared, A., Ouyang, X., Du, L. L., Yan, D. & Liu, X. Z., Nov 1 2012, In : Laryngoscope. 122, 11, p. 2539-2542 4 p.

Research output: Contribution to journalArticle

Presbycusis
Antioxidants
Genotype
Enzymes
Alleles
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
2 Citations (Scopus)

A xenograft model of vestibular schwannoma and hearing loss

Dinh, C. T., Bracho, O., Mei, C., Bas Infante, E., Fernandez-Valle, C., Telischi, F. F. & Liu, X. Z., Jun 1 2018, In : Otology and Neurotology. 39, 5, p. e362-e369

Research output: Contribution to journalArticle

Acoustic Neuroma
Hearing Loss
Heterografts
Neoplasms
Vestibulocochlear Nerve
4 Citations (Scopus)

Characterization of ATPase activity of P2RX2 cation channel

Mittal, R., Grati, M., Sedlacek, M., Yuan, F., Chang, Q., Yan, D., Lin, X., Kachar, B., Farooq, A., Chapagain, P., Zhang, Y. & Liu, X. Z., 2016, In : Frontiers in Physiology. 7, MAY, 186.

Research output: Contribution to journalArticle

Adenosine Triphosphatases
Cations
Adenosine Triphosphate
Ion Channel Gating
Hydrolysis
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
6 Citations (Scopus)

ClinGen expert clinical validity curation of 164 hearing loss gene–disease pairs

on behalf of the ClinGen Hearing Loss Clinical Domain Working Group, Jan 1 2019, In : Genetics in Medicine.

Research output: Contribution to journalArticle

Hearing Loss
Genome
Genes
Genetic Testing
Registries
11 Citations (Scopus)

Clinical comparison of hearing-impaired patients with DFNB1 against heterozygote carriers of connexin 26 mutations

Lipan, M., Ouyang, X., Yan, D., Angeli, S. I., Du, L. L. & Liu, X. Z., Apr 1 2011, In : Laryngoscope. 121, 4, p. 811-814 4 p.

Research output: Contribution to journalArticle

Heterozygote
Hearing
Mutation
Hearing Loss
Incidence
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
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
1 Citation (Scopus)

Cochlear implants in genetic deafness

Liu, X., Dec 1 2014, In : Journal of Otology. 9, 4, p. 156-162 7 p.

Research output: Contribution to journalArticle

Open Access
Cochlear Implantation
Cochlear Implants
Deafness
Spiral Ganglion
Sensorineural Hearing Loss
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)
Ubiquinone
Mitochondrial DNA
Hearing Loss
Sensorineural Hearing Loss
Mutation
5 Citations (Scopus)

Combination therapy with c-Met and Src inhibitors induces caspase-dependent apoptosis of merlin-deficient Schwann cells and suppresses growth of schwannoma cells

Fuse, M. A., Plati, S. K., Burns, S. S., Dinh, C. T., Bracho, O., Yan, D., Mittal, R., Shen, R., Soulakova, J. N., Copik, A. J., Liu, X. Z., Telischi, F. F., Chang, L. S., Franco, M. C. & Fernandez-Valle, C., Nov 1 2017, In : Molecular Cancer Therapeutics. 16, 11, p. 2387-2398 12 p.

Research output: Contribution to journalArticle

Neurofibromin 2
Neurofibromatosis 2
Caspase Inhibitors
Schwann Cells
Neurilemmoma
9 Citations (Scopus)
Unilateral Hearing Loss
Hearing Aids
Noise
Bone and Bones
Hearing
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
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
14 Citations (Scopus)

CRISPR: a versatile tool for both forward and reverse genetics research

Gurumurthy, C. B., Grati, M., Ohtsuka, M., Schilit, S. L. P., Quadros, R. M. & Liu, X. Z., Sep 1 2016, In : Human Genetics. 135, 9, p. 971-976 6 p.

Research output: Contribution to journalArticle

Clustered Regularly Interspaced Short Palindromic Repeats
Reverse Genetics
Genetic Research
Medical Genetics
Mutation
43 Citations (Scopus)

Current concepts in the pathogenesis and treatment of chronic suppurative otitis media

Mittal, R., Lisi, C. V., Gerring, R., Mittal, J., Mathee, K., Narasimhan, G., Azad, R. K., Yao, Q., Grati, MH., Yan, D., Eshraghi, A., Angeli, S. I., Telischi, F. F. & Liu, X. Z., Oct 1 2015, In : Journal of Medical Microbiology. 64, 10, p. 1103-1116 14 p.

Research output: Contribution to journalArticle

Suppurative Otitis Media
Otitis Media
Inner Ear
Ear Oval Window
Ear
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