Author
UNSW SydneyORCID 0000-0003-2750-1430Unclaimed ORCID profile · follow to get notified of new preprints
Mutual co-authors in cluster
3 papers
Recent·Most cited
Carlos C. Smith-Díaz, Natasha Henden, Natalie P. Stewart…·Jodie Ingles
This study identifies a homozygous SECISBP2 variant causing lethal perinatal cardiomyopathy through loss of selenoprotein function, including GPX4, and suggests a ferroptosis mechanism.
Adam Jackson, Alexander J. M. Blakes, Bader Alhaddad…·Siddharth Banka
The paper identifies biallelic variants in RNU2-2 as a frequent cause of a severe developmental epileptic encephalopathy, distinct from a dominant disorder, and links them to reduced U2-2 abundance.
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.