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Recommendations for clinical interpretation of variants found in non-coding regions of the genome.

Journal article

Ellingford JM. et al, (2022), Genome medicine, 14

MRSD: A quantitative approach for assessing suitability of RNA-seq in the investigation of mis-splicing in Mendelian disease

Journal article

Rowlands CF. et al, (2022), The American Journal of Human Genetics

Author Correction: The effect of LRRK2 loss-of-function variants in humans

Journal article

Whiffin N. et al, (2021), Nature Medicine

Characterising the loss-of-function impact of 5’ untranslated region variants in 15,708 individuals

Journal article

Whiffin N. et al, (2020), Nature Communications, 11

The effect of LRRK2 loss-of-function variants in humans

Journal article

Whiffin N. et al, (2020), Nature Medicine, 26, 869 - 877

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