Accès ouvert
2026
erratum
OpenAlex
Rocío Rius, Alexander J. M. Blakes, Yuyang Chen, Joachim De Jonghe et autres
In the version of this article initially published, the last name of Christel Thauvin-Robinet was misspelled (Thauvin-Robinetvin) and is now amended in the HTML and PDF versions of the article.
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2026
article
OpenAlex
Joachim De Jonghe, Hyung Chul Kim, Ayanfeoluwa Adedeji, Elsa Leitão et autres
Abstract Recently, de novo variants in an 18-nucleotide region in the centre of RNU4-2 were shown to cause ReNU syndrome, a syndromic neurodevelopmental disorder that is predicted to affect tens of thousands of individuals worldwide 1,2 . RNU4-2 is a non-protein-coding gene …
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Accès ouvert
2026
article
OpenAlex
Rocío Rius, Alexander J. M. Blakes, Yuyang Chen, Joachim De Jonghe et autres
Genetic variants in RNU4-2, which is transcribed into the U4 small nuclear RNA component of the major spliceosome, were recently shown to cause ReNU syndrome, a prevalent dominant neurodevelopmental disorder (NDD). These variants almost exclusively arise de novo and cluster within 18 …
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Accès ouvert
2026
article
OpenAlex
A. H. JACKSON, Alexander J. M. Blakes, Bader Alhaddad, Olivia J. Henry et autres
Neurodevelopmental disorders (NDDs) affect 2-4% of the population, are predominantly genetic and remain unsolved in ~50% of individuals. We show that rare biallelic variants in RNU2-2 are enriched and over-transmitted in individuals with unresolved NDDs. We define a recessive RNU2-2 syndrome, delineate …
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Accès ouvert
2026
article
OpenAlex
Alexander J. M. Blakes, N Whiffin, Colin A. Johnson, Jamie M. Ellingford et autres
Reliably predicting the molecular impact of premature termination codons (PTCs) is essential for the clinical interpretation of "loss-of-function" variants in human disease. Measures of selective constraint can identify genes and genomic regions which are intolerant to deleterious genetic variation. However, existing loss-of-function …
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2026
conference-paper
OpenAlex
Alexander J. M. Blakes, R Rius, Y Chen, Siddharth Banka et autres
Heterozygous variants in RNU4-2, a small nuclear RNA (snRNA) component of the major spliceosome, have recently been shown to cause ReNU syndrome, a highly prevalent neurodevelopmental disorder (NDD). Recessive spliceosomopathies have only been described in the minor spliceosome snRNAs RNU12 and RNU4ATAC. …
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2026
supplementary-materials
OpenAlex
Alexander J. M. Blakes
Appendices for PhD thesis titled "Nonsense mediated decay, snRNAs, and developmental disorders."
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Accès ouvert
2026
supplementary-materials
OpenAlex
Alexander J. M. Blakes
Appendices for PhD thesis titled "Nonsense mediated decay, snRNAs, and developmental disorders."
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Accès ouvert
2025
preprint
OpenAlex
Adam Jackson, Alexander J. M. Blakes, Elizabeth Wall, Natasha Clarke et autres
ABSTRACT Neurodevelopmental disorders (NDDs) affect 2-4% of the population, are predominantly genetic, and remain unsolved in ∼50% of individuals. We show that rare biallelic variants in RNU2-2 are enriched and over-transmitted in individuals with unresolved NDDs. We define a novel recessive RNU2-2 …
gb, au, it
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Accès ouvert
2025
preprint
OpenAlex
Rocío Rius, Alexander J. M. Blakes, Yuyang Chen, Joachim De Jonghe et autres
ABSTRACT Genetic variants in RNU4-2 , which encodes U4, a key non-coding small nuclear RNA (snRNA) component of the major spliceosome, were recently shown to cause a prevalent neurodevelopmental disorder (NDD) called ReNU syndrome. These variants, which almost exclusively arise de novo …
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Accès ouvert
2025
article
OpenAlex
J. Robert Harkness, John McDermott, Shea Marsden, Peter Jamieson et autres
BACKGROUND: The reasons why some individuals have severe neuropathy following an infection are not known. Through the agnostic screening of children with acute axonal neuropathy after an infection, we identified several families with biallelic variants in RCC1. We aimed to describe the …
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Accès ouvert
2025
erratum
OpenAlex
Adam Jackson, Nishi Thaker, Alexander J. M. Blakes, Gillian Rice et autres
In the version of the article initially published online, there were typographical errors in the Fig. 1c y -axis label where “misc_RNA” appeared as “mise-RNA” and in the Fig. 2a y -axis label where “Microcephaly” appeared as “Macrocephaly.” The errors have been …
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