Q. Fu

发表

Next-generation sequencing-based molecular diagnosis of 12 inherited retinal disease probands of Uyghur ethnicity

Rui Chen, H. Aisa, Mingchu Xu, 2016, Scientific Reports.

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.

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.

Two different intragenic dystrophin deletions in a Chinese nuclear family with dystrophinopathies

Q. Fu, Kun Wang, Tingting Zhang, 2017 .

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.

CEP78 is mutated in a distinct type of Usher syndrome

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

Novel mutation in FBN1 causes ectopia lentis and varicose great saphenous vein in one Chinese autosomal dominant family

P. Liu, Hui Wang, Y. Sergeev, 2014, Molecular vision.

PHENOTYPIC VARIABILITY OF RECESSIVE RDH12-ASSOCIATED RETINAL DYSTROPHY.

Yumei Li, Rui Chen, Zhongqi Ge, 2019, Retina.

WDR19: An ancient, retrograde, intraflagellar ciliary protein is mutated in autosomal recessive retinitis pigmentosa and in Senior‐Loken syndrome

J. Majewski, F. Hildebrandt, E. Otto, 2013, Clinical genetics.

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.