Zhisheng Yuan - Publications

Leber congenital amaurosis as an initial manifestation in a Chinese patient with thiamine-responsive megaloblastic anemia syndrome.

Journal: American journal of medical genetics. Part A

Published: September 03, 2021

A novel tandem duplication of PRDM13 in a Chinese family with North Carolina macular dystrophy.

Journal: Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie

Published: June 12, 2021

Clinical and genetic features of eight Chinese autosomal-dominant optic atrophy pedigrees with six novel OPA1 pathogenic variants.

Journal: Ophthalmic genetics

Published: June 29, 2018

A novel small deletion in the NHS gene associated with Nance-Horan syndrome.

Journal: Scientific reports

Published: August 31, 2017

Leveraging splice-affecting variant predictors and a minigene validation system to identify Mendelian disease-causing variants among exon-captured variants of uncertain significance.

Journal: Human mutation

Published: May 16, 2017

The phenotypic variability of HK1-associated retinal dystrophy.

Journal: Scientific reports

Published: January 30, 2017

Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies.

Journal: American journal of human genetics

Published: December 17, 2016

CEP78 is mutated in a distinct type of Usher syndrome.

Journal: Journal of medical genetics

Published: July 15, 2016

Molecular genetic and clinical evaluation of three Chinese families with X-linked ocular albinism.

Journal: Scientific reports

Published: April 02, 2016