Influence of age and sex on the diagnostic yield of inherited cardiac conditions in sudden arrhythmic death syndrome decedents
Gray B. et al, (2024), European Journal of Preventive Cardiology
Noncoding variants are a rare cause of recessive developmental disorders in trans with coding variants.
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Improving estimates of loss-of-function constraint for short genes
Whiffin N., (2024), Nature Genetics
De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome.
Chen Y. et al, (2024), Nature
Exome-wide evidence of compound heterozygous effects across common phenotypes in the UK Biobank.
Lassen FH. et al, (2024), Cell genomics, 4
Modulation of prion protein expression through cryptic splice site manipulation
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Differences in 5'untranslated regions highlight the importance of translational regulation of dosage sensitive genes.
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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.
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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
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
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), The American Journal of Human Genetics, 108, 1083 - 1094