Saturation genome editing ofRNU4-2reveals distinct dominant and recessive neurodevelopmental disorders
De Jonghe J. et al, (2025)
Noncoding variants are a rare cause of recessive developmental disorders in trans with coding variants.
Lord J. et al, (2024), Genetics in medicine : official journal of the American College of Medical Genetics, 26
De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome.
Chen Y. et al, (2024), Nature, 632, 832 - 840
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
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), 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