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Publications

Modulation of prion protein expression through cryptic splice site manipulation.

Gentile JE. et al, (2023), bioRxiv

Systematic identification of disease-causing promoter and untranslated region variants in 8,040 undiagnosed individuals with rare disease.

Martin-Geary AC. et al, (2023), medRxiv

Ethnicity, consanguinity, and genetic architecture of hypertrophic cardiomyopathy.

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

Exome-wide evidence of compound heterozygous effects across common phenotypes in the UK Biobank

Lassen FH. et al, (2023)

Not all exons are protein coding: Addressing a common misconception

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

2022 Curt Stern Award introduction: Heidi Rehm.

Whiffin N., (2023), Am J Hum Genet, 110

Variant Location Is a Novel Risk Factor for Individuals With Arrhythmogenic Cardiomyopathy Due to a Desmoplakin (DSP) Truncating Variant.

Hoorntje ET. et al, (2022), Circulation. Genomic and precision medicine

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

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

Genetic constraint at single amino acid resolution improves missense variant prioritisation and gene discovery

Zhang X. et al, (2022)

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

Rowlands CF. et al, (2022), American journal of human genetics, 109, 210 - 222

Author Correction: Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes (Nature Communications, (2020), 11, 1, (2539), 10.1038/s41467-019-12438-5)

Wang Q. et al, (2021), Nature Communications, 12

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

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.

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.

Wright CF. et al, (2021), American journal of human genetics, 108, 1083 - 1094

Quantitative evidence evaluation for singleton rare missense variants in rare distinctive adult-onset phenotypes: the exemplar of SDHB and SDHD

King L. et al, (2021), MOLECULAR GENETICS AND METABOLISM, 132, S37 - S37

Author Correction: Characterising the loss-of-function impact of 5' untranslated region variants in 15,708 individuals.

Whiffin N. et al, (2021), Nature communications, 12

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

Whiffin N. et al, (2021), Nature medicine, 27

Shared genetic pathways contribute to risk of hypertrophic and dilated cardiomyopathies with opposite directions of effect.

Tadros R. et al, (2021), Nature genetics, 53, 128 - 134

Author Correction: A structural variation reference for medical and population genetics (Nature, (2020), 581, 7809, (444-451), 10.1038/s41586-020-2287-8)

Collins RL. et al, (2021), Nature

Author Correction: Evaluating drug targets through human loss-of-function genetic variation (Nature, (2020), 581, 7809, (459-464), 10.1038/s41586-020-2267-z)

Minikel EV. et al, (2021), Nature

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