Author
Murdoch Children's Research InstituteORCID 0000-0003-0305-7822Unclaimed ORCID profile · follow to get notified of new preprints
Mutual co-authors in cluster
3 papers
Recent·Most cited
Rocío Rius, Alexander J. M. Blakes, Yuyang Chen…·Nicola Whiffin
The paper identifies biallelic variants in RNU4-2 causing a recessive neurodevelopmental syndrome with distinct white matter changes, expanding the known genotypic and phenotypic spectrum of RNU4-2-related disorders.
Carlos A. Dominguez Gonzalez, Katrina M. Bell, Ramakrishnan Rajagopalan…·Danny E. Miller
The paper identifies a common intronic SVA_E insertion in ASPA as the most frequent pathogenic variant in Canavan disease using long-read sequencing.
Yuyang Chen, Ruebena Dawes, Hyung Chul Kim…·David H. Viskochil
Mostly de novo variants in an 18 bp constrained region of U4 snRNA gene RNU4-2 cause a syndromic neurodevelopmental disorder, estimated to explain 0.41% of cases.