Author
University of California, Los AngelesORCID 0000-0001-9498-7982Unclaimed ORCID profile · follow to get notified of new preprints
3 papers
Recent·Most cited
Joel T Rämö, Bryan R. Gorman, Lu-Chen C Weng…·Elizabeth J. Rossin
The paper identifies a rare variant in VE-PTP associated with CSC, varicose veins, and glaucoma using genome-wide data from multiple cohorts.
Shu Wen, Meng Wang, Xinye Qian…·Rui Chen
This study identifies 16 pathogenic structural variants in 16 IRD families using whole-genome sequencing, finding SVs contribute 2.1% to unresolved IRD cases but less than SNVs and indels.
Mubeen Khan, Stéphanie S. Cornelis, Marta Del Pozo‐Valero…·Frans P.M. Cremers
The paper identifies pathogenic deep-intronic and structural variants in 26% of unsolved Stargardt disease cases using integrated genomics and transcriptomics.