Ya-ni Liu

发表

Distinct mutations with different inheritance mode caused similar retinal dystrophies in one family: a demonstration of the importance of genetic annotations in complicated pedigrees

B. Yan, Xue Chen, Chao Jiang, 2018, Journal of Translational Medicine.

Targeted Next-Generation Sequencing Reveals Novel USH2A Mutations Associated with Diverse Disease Phenotypes: Implications for Clinical and Molecular Diagnosis

Kanxing Zhao, Xue Chen, X. Sheng, 2014, PloS one.

GUCA1A mutation causes maculopathy in a five-generation family with a wide spectrum of severity

B. Yan, Wenjuan Zhuang, Qingshun Zhao, 2017, Genetics in Medicine.

CCT2 Mutations Evoke Leber Congenital Amaurosis due to Chaperone Complex Instability

M. Furuno, K. Ikeo, S. Hattori, 2016, Scientific Reports.

Identification of a novel p.R1443W mutation in RP1 gene associated with retinitis pigmentosa sine pigmento.

X. Sheng, Ya-ni Liu, Huiping Li, 2013, International journal of ophthalmology.

CEP78 is mutated in a distinct type of Usher syndrome

Yumei Li, Rui Chen, Mingchu Xu, 2016, Journal of Medical Genetics.

Distinct mutations with different inheritance mode caused similar retinal dystrophies in one family: a demonstration of the importance of genetic annotations in complicated pedigrees

B. Yan, Xue Chen, Chao Jiang, 2018, Journal of Translational Medicine.

Whole exome sequencing confirms the clinical diagnosis of Marfan syndrome combined with X-linked hypophosphatemia

Chen Zhao, R. Chen, Hui Wang, 2015, Journal of Translational Medicine.

Novel and Recurrent MYO7A Mutations in Usher Syndrome Type 1 and Type 2

Kanxing Zhao, Xue Chen, X. Sheng, 2014, PloS one.

Targeted sequencing of 179 genes associated with hereditary retinal dystrophies and 10 candidate genes identifies novel and known mutations in patients with various retinal diseases.

D. Vollrath, T. Lai, Kanxing Zhao, 2013, Investigative ophthalmology & visual science.

PRPF4 mutations cause autosomal dominant retinitis pigmentosa.

D. Vollrath, Kanxing Zhao, C. Pang, 2014, Human molecular genetics.

Oliver-McFarlane Syndrome in a Chinese Boy: Retinitis Pigmentosa, Trichomegaly, Hair Anomalies and Mental Retardation

X. Sheng, Ya-ni Liu, Huiping Li, 2015, Ophthalmic genetics.

Association of insulin-like growth factor-1 polymorphisms with high myopia in the Chinese population

W. Xiang, Peizeng Yang, Jing-jing Zhao, 2012, Molecular vision.

Association of Specific Genetic Polymorphisms with Age-related Macular Degeneration in a Northern Chinese Population

W. Xiang, Ying Han, Jing-jing Zhao, 2014, Ophthalmic genetics.

FGFR2 mutation in a Chinese family with unusual Crouzon syndrome.

Wenjuan Zhuang, Wei Zhao, Xue Chen, 2016, International journal of ophthalmology.

Whole exome sequencing confirms the clinical diagnosis of Marfan syndrome combined with X-linked hypophosphatemia

Rui Chen, Hui Wang, Peizeng Yang, 2015, Journal of Translational Medicine.

Targeted Next-generation Sequencing Reveals Novel EYS Mutations in Chinese Families with Autosomal Recessive Retinitis Pigmentosa

Chen Zhao, Kanxing Zhao, Xue Chen, 2015, Scientific Reports.

Next-generation Sequencing Extends the Phenotypic Spectrum for LCA5 Mutations: Novel LCA5 Mutations in Cone Dystrophy

Chen Zhao, Xue Chen, Chao Jiang, 2016, Scientific Reports.