Author
University of California, San FranciscoORCID 0000-0001-7087-1205Unclaimed ORCID profile · follow to get notified of new preprints
3 papers
Recent·Most cited
James Liu, Yi He, Cara Lwin…·Robert B. Hufnagel
The paper identifies NTE activity as a biomarker for retinopathy and endocrinopathy in PNPLA6 disorders, using clinical and preclinical data to establish a genotype-activity-phenotype relationship.
James H. R. Farmery, Mike L. Smith, NIHR BioResource - Rare Diseases…·Emma L. Wakeling
Telomerecat estimates telomere length from whole-genome sequencing data without requiring prior knowledge of ploidy, showing good performance and detecting expected patterns in various data types.
Valentina Cipriani, Raquel Sofia Silva, Gavin Arno…·Anthony T. Moore
The paper identifies two duplications at the MCDR3 locus associated with North Carolina macular dystrophy, refining the disease-causing region and showing expression of IRX1 and ADAMTS16 in fetal retina.