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
2025
article
OpenAlex
Carlos González, Katrina M. Bell, Ramakrishnan Rajagopalan, M. De Silva et autres
Background and Objectives: result in spongiform degeneration of the cerebral white matter, leading to progressive and irreversible motor and cognitive decline. Despite comprehensive genetic testing, many individuals with clinical and biochemical diagnoses of CD remain without a definitive molecular diagnosis. This gap …
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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
preprint
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 (NDD) that is predicted to affect tens of thousands of individuals worldwide 1,2 . RNU4-2 is a …
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Accès ouvert
2024
article
OpenAlex
Yuyang Chen, Ruebena Dawes, Hyung Chul Kim, Alicia Ljungdahl et autres
Abstract Around 60% of individuals with neurodevelopmental disorders (NDD) remain undiagnosed after comprehensive genetic testing, primarily of protein-coding genes 1 . Large genome-sequenced cohorts are improving our ability to discover new diagnoses in the non-coding genome. Here we identify the non-coding RNA …
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Accès ouvert
2024
preprint
OpenAlex
Yuyang Chen, Ruebena Dawes, Hyung Chul Kim, Sarah L. Stenton et autres
Abstract Around 60% of individuals with neurodevelopmental disorders (NDD) remain undiagnosed after comprehensive genetic testing, primarily of protein-coding genes 1 . Increasingly, large genome-sequenced cohorts are improving our ability to discover new diagnoses in the non-coding genome. Here, we identify the non-coding …
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