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Please note that Researcher Profiles will be undergoing scheduled maintenance on Wednesday 7th Oct, from 8:00am to 9:00am. During this time, the Researcher Profiles system will be unavailable. We apologise for any inconvenience and appreciate your understanding.
Select Publications
Preprints
, A KLHL40 3’ UTR splice-altering variant causes milder NEM8, an under-appreciated disease mechanism, http://dx.doi.org/10.1101/2022.08.08.22278402
, Genes in Humans and Mice: Insights from Deep learning of 777K Bulk Transcriptomes, http://dx.doi.org/10.1101/2024.04.01.587517
, Improving genetic diagnosis in Mendelian disease with transcriptome sequencing, http://dx.doi.org/10.1101/074153
, Multifaceted Representation of Genes via Deep Learning of Gene Expression Networks, http://dx.doi.org/10.1101/2024.03.07.583777