Xia Wang

发表

The Drosophila melanogaster transcriptome by paired-end RNA sequencing.

R. Gibbs, W. Gelbart, Rui Chen, 2011, Genome research.

Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration

Colin A. Johnson, G. Mardon, G. Fishman, 2012, Nature Genetics.

Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing

S. Jacobson, G. Fishman, Rui Chen, 2013, Journal of Medical Genetics.

Dawn of ocular gene therapy: implications for molecular diagnosis in retinal disease

Xia Wang, Rui Chen, Feng Wang, 2013, Science China Life Sciences.

Union Makes Strength: A Worldwide Collaborative Genetic and Clinical Study to Provide a Comprehensive Survey of RD3 Mutations and Delineate the Associated Phenotype

A. Munnich, A. D. den Hollander, F. Cremers, 2013, PloS one.

Next-generation sequencing-based molecular diagnosis of a Chinese patient cohort with autosomal recessive retinitis pigmentosa.

Fei Xu, Yumei Li, Feng Wang, 2013, Investigative ophthalmology & visual science.

The Next Generation Sequencing Based Molecular Diagnosis of Visual Diseases

R. Lewis, Xia Wang, 2017 .

Mutations in human IFT140 cause non-syndromic retinal degeneration

Yumei Li, Rui Chen, Zhongqi Ge, 2015, Human Genetics.

Comprehensive Molecular Diagnosis of a Large Chinese Leber Congenital Amaurosis Cohort.

Yumei Li, Rui Chen, Hui Wang, 2015, Investigative ophthalmology & visual science.

Whole‐exome sequencing identifies ALMS1, IQCB1, CNGA3, and MYO7A mutations in patients with leber congenital amaurosis

J. Lupski, R. Gibbs, G. Mardon, 2011, Human mutation.

GRIPT: a novel case-control analysis method for Mendelian disease gene discovery

Fei Wang, Yong Chen, Rui Chen, 2018, Genome Biology.

Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinements

Jacqueline Pei, Cindy Wen, Kang Zhang, 2014, Human Genetics.

ADIPOR1 Is Mutated in Syndromic Retinitis Pigmentosa

Yumei Li, Rui Chen, Xia Wang, 2016, Human mutation.

Comprehensive analysis of Stargardt macular dystrophy patients reveals new genotype-phenotype correlations and unexpected diagnostic revisions

Yumei Li, Rui Chen, Hui Wang, 2014, Genetics in Medicine.

Comprehensive analysis of patients with Stargardt macular

Yumei Li, Rui Chen, Hui Wang, 2015 .

Retinal Diseases Caused by Mutations in Genes Not Specifically Associated with the Clinical Diagnosis

R. Lewis, Xia Wang, L. Wong, 2016, PloS one.

Dawn of ocular gene therapy: implications for molecular diagnosis in retinal disease

Xia Wang, Rui Chen, Feng Wang, 2013, Science China Life Sciences.

Toll-like receptor alterations in myelodysplastic syndrome

D. Neuberg, B. Ebert, R. Bejar, 2013, Leukemia.

Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinements

Jacqueline Pei, Cindy Wen, Kang Zhang, 2013, Human Genetics.

The Drosophila melanogaster transcriptome by paired-end RNA sequencing.

R. Gibbs, W. Gelbart, Rui Chen, 2011, Genome research.

Mutations in human IFT140 cause non-syndromic retinal degeneration

Yumei Li, Rui Chen, Zhongqi Ge, 2015, Human Genetics.