Area of research
Molecular Biology · Rheumatology
Research interest
Research focused on Retinitis pigmentosa and Genetics, with related work in Proband, Retinal degeneration, Sanger sequencing. Notable publications include 'Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinements', 'Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration', and 'Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing'.
Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinements
Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing
Next-Generation Sequencing–Based Molecular Diagnosis of a Chinese Patient Cohort With Autosomal Recessive Retinitis Pigmentosa
<i>WDR19</i> : An ancient, retrograde, intraflagellar ciliary protein is mutated in autosomal recessive retinitis pigmentosa and in Senior‐Loken syndrome
Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration