Author
University of CambridgeORCID 0000-0001-6282-0301Unclaimed ORCID profile · follow to get notified of new preprints
Mutual co-authors in cluster
3 papers
Recent·Most cited
James Lambton, Shotaro Asano, Yuxiang Huang…·Robert William Taylor
The paper identifies bi-allelic ATG12 variants causing a neurodevelopmental disorder by impairing autophagy, with clinical and functional evidence from patient cells, yeast, and zebrafish models.
Monika Oláhová, Rachel M. Guerra, Jack J. Collier…·Robert William Taylor
This study shows RTN4IP1 is critical for mitochondrial complex I assembly and coenzyme Q biosynthesis, with mutations causing defects in both processes in patient cells.
David Zhang, Regina Hertfelder Reynolds, Sonia García-Ruiz…·Mina Ryten
This paper introduces dasper, an R/Bioconductor package that detects pathogenic splicing events from RNA-sequencing data with higher accuracy than existing methods.