Saturation genome editing ofRNU4-2reveals distinct dominant and recessive neurodevelopmental disorders
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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
Lord J. et al, (2024), Genetics in Medicine, 26, 101249 - 101249
De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome
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Improving estimates of loss-of-function constraint for short genes
Whiffin N., (2024), Nature Genetics
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
Gentile JE. et al, (2024), Journal of Biological Chemistry, 107560 - 107560
Differences in 5'untranslated regions highlight the importance of translational regulation of dosage sensitive genes.
Wieder N. et al, (2024), Genome biology, 25
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