X. Liu

发表

A mutation (2314delG) in the Usher syndrome type IIA gene: high prevalence and phenotypic variation.

K. Steel, T. Cole, R. Mueller, 1999, American journal of human genetics.

Assessment of the genetic causes of recessive childhood non‐syndromic deafness in the UK – implications for genetic testing

M. Bitner-Glindzicz, G. Taylor, E. Telford, 2005, Clinical genetics.

A common ancestral origin of the frequent and widespread 2299delG USH2A mutation.

C. Cremers, C. Möller, T. Rosenberg, 2001, American journal of human genetics.

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

M. Tekin, K. Arnos, A. Pandya, 2001, Human molecular genetics.

Sensorineural hearing impairment: non-syndromic, recessive DFNB2.

X. Liu, S. Brown, 2000, Advances in oto-rhino-laryngology.

Sensorineural hearing impairment non-syndromic, dominant DFNA11.

K. Steel, M. Nishizawa, T. Ishida, 2000, Advances in oto-rhino-laryngology.

DNA Methylation Study in Presbycusis Patients

S. Blanton, X. Liu, F. Gong, 2022, medRxiv.

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

S. Z. Yang, D. Yan, G. Feng, 2008, Clinical genetics.

The mutational spectrum in Waardenburg syndrome.

W. Reardon, M. Tassabehji, E. Obersztyn, 1994, Human molecular genetics.

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

S. Z. Yang, D. Yan, G. Feng, 2007, Clinical genetics.

Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23.

M. Bitner-Glindzicz, S. Riazuddin, Z. Ahmed, 2001, American journal of human genetics.

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

D. Yan, C. Giallourakis, V. Yajnik, 2006, Journal of molecular biology.

Mutation analysis of the mouse myosin VIIA deafness gene.

K. Steel, P. Mburu, M. Cope, 1997, Genes and function.

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

K. Steel, A. Munnich, C. Petit, 1997, Human molecular genetics.

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

A. Pandya, S. Blanton, D. Yan, 2005, Journal of Medical Genetics.

[Comparison study of whole exome sequencing and targeted panel sequencing in molecular diagnosis of inherited retinal dystrophies].

L. Yang, X. Liu, Y. Y. Li, 2020, Beijing da xue xue bao. Yi xue ban = Journal of Peking University. Health sciences.

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

K. Steel, A. Pandya, S. Blanton, 2000, Human molecular genetics.

Mutations in the myosin VIIA gene cause a wide phenotypic spectrum, including atypical Usher syndrome.

K. Steel, D. Trump, S. Brown, 1998, American journal of human genetics.

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

A. Pandya, X. Liu, S. Blanton, 2002, Journal of medical genetics.

Is Assortative Mating the Cause for the High Frequency of Connexin 26 (Cx 26) Deafness?

A. Pandya, W. Nance, X. Liu, 2000, Genetics in Medicine.