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Search results (123)

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Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes

Rius R. et al, (2026), Nature Genetics

Saturation editing of RNU4-2 reveals distinct dominant and recessive disorders.

De Jonghe J. et al, (2026), Nature

Influence of age and sex on the diagnostic yield of inherited cardiac conditions in sudden arrhythmic death syndrome decedents

Gray B. et al, (2026), European Journal of Preventive Cardiology, 33, 432 - 440

Modulating splicing in 5’ untranslated regions to treat rare haploinsufficient disease

Beer Wells ES. et al, (2025)

Accurately modelling RNase H-mediated antisense oligonucleotide efficacy

Hill B. et al, (2025)

Translon: a single term for translated regions.

Świrski MI. et al, (2025), Nature methods, 22, 2002 - 2006

The role of untranslated region variants in Mendelian disease: a review

Wieder N. et al, (2025), European Journal of Human Genetics, 33, 1096 - 1105

Biallelic variants in the non-coding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes

Rius R. et al, (2025)

Aberrant splicing prediction during human organ development

Wagner N. et al, (2025)

Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption.

Nava C. et al, (2025), Nature genetics, 57, 1374 - 1388

Saturation genome editing of RNU4-2 reveals distinct dominant and recessive neurodevelopmental disorders

De Jonghe J. et al, (2025)

Whole Genome Sequencing of “Mutation‐Negative” Individuals With Cornelia de Lange Syndrome

Ansari M. et al, (2025), Human Mutation, 2025

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

Abstracts from the 57th European Society of Human Genetics (ESHG) Conference: Oral Presentations

(2024), European Journal of Human Genetics, 32, 799 - 903

Regional nonsense constraint offers clinical and biological insights into rare genetic disorders

Blakes A. et al, (2024)

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