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Liste des premières publications scientifiques classées par chronologie :

De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders  - Chen Y, Dawes R, Kim HC  - Nature. 2024 Aug;632(8026):832-840

Mutations in the U4 snRNA gene RNU4-2 cause one of the most prevalent monogenic neurodevelopmental disorders  - Greene D, Thys C, Berry IR  - Nat Med. 2024 Aug;30(8):2165-2169

Re-analysis of whole genome sequencing ends a diagnostic odyssey: Case report of an RNU4-2 related neurodevelopmental disorder  - Schot R, Ferraro F, Geeven G  - Clin Genet. 2024 Oct;106(4):512-517

ReNU syndrome - a newly discovered prevalent neurodevelopmental disorder  - Burns VF, Radford EJ  - Trends Genet. 2024 Nov;40(11):914-916

Deep phenotyping of 11 individuals with pathogenic variants in RNU4-2 reveals a clinically recognizable syndrome  - Valenzuela I, Codina-Solà M, Vazquez E  - Genet Med. 2024 Dec;26(12):101288

The Face and Features of RNU4-2: A New, Common, Recognizable, Yet Hidden Neurodevelopmental Disorder  - Barbour K, Bainbridge MN, Wigby K  - Pediatr Neurol. 2024 Dec;161:188-193

RNU4-2-Related Neurodevelopmental Disorder Is Associated With a Recognisable Facial Gestalt  - Rosenblum J, Beysen D, Jansen AC  - Clin Genet. 2025 Jan;107(1):104-112

The Prevalence of RNU4-2-Associated Autosomal Dominant Intellectual Disability Syndrome  - Barbour K, Friedman J, Bird LM  - Pediatr Neurol. 2024 Dec 18;164:1-3

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Lien permanent vers les publications officielles (en anglais) :

https://pubmed.ncbi.nlm.nih.gov/?term=rnu4-2

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