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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

Clinical likelihood ratios and balanced accuracy for 44 in silico tools against multiple large-scale functional assays of cancer susceptibility genes.

Journal article

Cubuk C. et al, (2021), Genetics in medicine : official journal of the American College of Medical Genetics, 23, 2096 - 2104

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

Journal article

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

Non-coding region variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanisms

Journal article

Wright CF. et al, (2021), The American Journal of Human Genetics, 108, 1083 - 1094

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

Journal article

Whiffin N. et al, (2021), Nature Medicine, 27, 355 - 355

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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