Cookies on this website

We use cookies to ensure that we give you the best experience on our website. If you click 'Accept all cookies' we'll assume that you are happy to receive all cookies and you won't see this message again. If you click 'Reject all non-essential cookies' only necessary cookies providing core functionality such as security, network management, and accessibility will be enabled. Click 'Find out more' for information on how to change your cookie settings.

Search results (125)

« Back to Publications

Author Correction: 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

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)

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 : EJHG, 33, 1096 - 1105

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)

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)

Whole Genome Sequencing of "Mutation-Negative" Individuals With Cornelia de Lange Syndrome.

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

Accurately modelling RNase H-mediated antisense oligonucleotide efficacy

Hill B. 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

The PS4-likelihood ratio calculator: flexible allocation of evidence weighting for case-control data in variant classification.

Rowlands CF. et al, (2024), Journal of medical genetics, 61, 983 - 991

Improving estimates of loss-of-function constraint for short genes.

Whiffin N., (2024), Nature genetics, 56, 1544 - 1545

Modulation of prion protein expression through cryptic splice site manipulation.

Gentile JE. et al, (2024), The Journal of biological chemistry, 300

De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome.

Chen Y. et al, (2024), Nature, 632, 832 - 840

Exome-wide evidence of compound heterozygous effects across common phenotypes in the UK Biobank.

Lassen FH. et al, (2024), Cell genomics, 4

De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders.

Chen Y. et al, (2024)

Load More

1
2
3
4
5
6
7