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Publications

De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders.

Chen Y. et al, (2024)

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), The American Journal of Human Genetics, 110, 409 - 409

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), The American Journal of Human Genetics

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

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

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

Rowlands CF. et al, (2021)

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

Tadros R. et al, (2021), Nature genetics

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

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

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

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

Annotating high-impact 5’untranslated region variants with the UTRannotator

Zhang X. et al, (2020)

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

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

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