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Ethnicity, consanguinity, and genetic architecture of hypertrophic cardiomyopathy.

Journal article

Allouba M. et al, (2023), Eur Heart J

Not all exons are protein coding: Addressing a common misconception

Journal article

Aspden JL. et al, (2023), Cell Genomics, 3, 100296 - 100296

2022 Curt Stern Award introduction: Heidi Rehm

Journal article

Whiffin N., (2023), The American Journal of Human Genetics, 110, 409 - 409

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

New Variant With a Previously Unrecognized Mechanism of Pathogenicity in Hypertrophic Cardiomyopathy.

Journal article

Aguib Y. et al, (2021), Circulation, 144, 754 - 757

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

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