Search results (121)
« Back to PublicationsInfluence of age and sex on the diagnostic yield of inherited cardiac conditions in sudden arrhythmic death syndrome decedents
Journal article
Gray B. et al, (2026), European Journal of Preventive Cardiology, 33, 432 - 440
Modulating splicing in 5’ untranslated regions to treat rare haploinsufficient disease
Preprint
Beer Wells ES. et al, (2025)
ccurately modelling RNase H-mediated antisense oligonucleotide efficacy
Preprint
Hill B. et al, (2025)
Translon: a single term for translated regions.
Journal article
Świrski MI. et al, (2025), Nature methods, 22, 2002 - 2006
The role of untranslated region variants in Mendelian disease: a review
Journal article
Wieder N. et al, (2025), European Journal of Human Genetics, 33, 1096 - 1105
Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption.
Journal article
Nava C. et al, (2025), Nature genetics, 57, 1374 - 1388
Saturation genome editing of RNU4-2 reveals distinct dominant and recessive neurodevelopmental disorders
Preprint
De Jonghe J. et al, (2025)
Whole Genome Sequencing of “Mutation‐Negative” Individuals With Cornelia de Lange Syndrome
Journal article
Ansari M. et al, (2025), Human Mutation, 2025
Noncoding variants are a rare cause of recessive developmental disorders in trans with coding variants
Journal article
Lord J. et al, (2024), Genetics in Medicine, 26, 101249 - 101249
bstracts from the 57th European Society of Human Genetics (ESHG) Conference: Oral Presentations
Conference paper
(2024), European Journal of Human Genetics, 32, 799 - 903
Regional nonsense constraint offers clinical and biological insights into rare genetic disorders
Preprint
Blakes A. et al, (2024)
The PS4-likelihood ratio calculator: flexible allocation of evidence weighting for case-control data in variant classification.
Journal article
Rowlands CF. et al, (2024), Journal of medical genetics, 61, 983 - 991
De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome
Journal article
Chen Y. et al, (2024), Nature, 632, 832 - 840