A novel functional genomics atlas coupled with convolutional neural networks facilitates clinical interpretation of disease relevant variants in non-coding regulatory elements
Preprint in medRxiv (April 2024)
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Role of next generation sequencing in diagnosis and management of critically ill children with suspected monogenic disorder
Article in European Journal of Human Genetics (April 2024)
Hypomagnesaemia with varying degrees of extrarenal symptoms as a consequence of heterozygous CNNM2 variants
Article in Scientific Reports (March 2024)