Peer-reviewedCC BY 4.0Genetics in Medicine
Expanding the clinical spectrum of RNU4ATAC-opathies: more frequent and diverse than assumed
Related
- Expanding the Clinical and Molecular Spectrum of Cartilage-Hair Hypoplasia in the Mexican Population
- Editorial: The expanding spectrum of hemophagocytic lymphohistiocytosis: pathogenic mechanisms and therapeutic implications
- Expanding the genetic spectrum of inherited peripheral neuropathies in complex neurogenetic disorders using whole-exome sequencing.
- Clinical spectrum and genotype–phenotype correlations of MT-CYB-associated mitochondrial disease: from the m.15045G > A variant to the broader disease landscape
- Clinical and Molecular Spectrum of 1q21.1 Copy Number Variations: A Case Series.
BibTeX
@article{cuinat2026expanding,
title = {{Expanding the clinical spectrum of RNU4ATAC-opathies: more frequent and diverse than assumed}},
author = {Silvestre Cuinat and Valérie Cormier-Daire and Jeremie Rosain and Céline Huber and Elsa Ferriere and Benjamin Fournier and Morgane Cheminant and Martin Castelle and Paul Bastard and Nicolas Noel and Katia Bourdic and Capucine Picard and Despina Moshous and Virginie Courteille and Nizar Mahlaoui and Jacinta Bustamante and Gislène Collobert and Cyril Mignot and Boris Keren and Séverine Drunat and Sophie Rondeau and Alexia Rabec and Alicia Besson and Nicolas Chatron and Gaetan Lesca and Audrey Laurent and Jérémie Mortreux and Marine Serveaux Dancer and Gabriel Dejeans and Claire Poggi and Radka Stoeva and Alissandre Lecordier and Céline Poirsier and Anne Dieux and Francoise Sarrot-Reynauld and Béatrice Laudier and Maelle Le Besnerais and Anne-Marie Guerrot and Mathilde Nizon and Benjamin Cogne and Bertrand Isidor and Sophie Julia and Sarra Bouri and Mathieu Fusaro and Marjolaine Willems and Narcisse Elenga and Succès Remadji Dobian and Mody Diop and Salomé Pacaud and Claire Dichamp and Elisabeth Sarrazin and Amaia Lasa-Aranzasti and Eduardo Fidel Tizzano and Ivon Cusco Marti and Andrea Martin Nalda and Ana Felipe-Rucián and David Gómez-Andres and Marta Codina-Solà and Paula Fernandez and Jacques Gabriel Riviere},
journal = {Genetics in Medicine},
year = {2026},
month = sep,
doi = {10.1016/j.gim.2026.102632},
url = {https://hal.science/hal-05677804v1},
note = {CC BY 4.0},
}
RIS
TY - JOUR
TI - Expanding the clinical spectrum of RNU4ATAC-opathies: more frequent and diverse than assumed
AU - Silvestre Cuinat
AU - Valérie Cormier-Daire
AU - Jeremie Rosain
AU - Céline Huber
AU - Elsa Ferriere
AU - Benjamin Fournier
AU - Morgane Cheminant
AU - Martin Castelle
AU - Paul Bastard
AU - Nicolas Noel
AU - Katia Bourdic
AU - Capucine Picard
AU - Despina Moshous
AU - Virginie Courteille
AU - Nizar Mahlaoui
AU - Jacinta Bustamante
AU - Gislène Collobert
AU - Cyril Mignot
AU - Boris Keren
AU - Séverine Drunat
AU - Sophie Rondeau
AU - Alexia Rabec
AU - Alicia Besson
AU - Nicolas Chatron
AU - Gaetan Lesca
AU - Audrey Laurent
AU - Jérémie Mortreux
AU - Marine Serveaux Dancer
AU - Gabriel Dejeans
AU - Claire Poggi
AU - Radka Stoeva
AU - Alissandre Lecordier
AU - Céline Poirsier
AU - Anne Dieux
AU - Francoise Sarrot-Reynauld
AU - Béatrice Laudier
AU - Maelle Le Besnerais
AU - Anne-Marie Guerrot
AU - Mathilde Nizon
AU - Benjamin Cogne
AU - Bertrand Isidor
AU - Sophie Julia
AU - Sarra Bouri
AU - Mathieu Fusaro
AU - Marjolaine Willems
AU - Narcisse Elenga
AU - Succès Remadji Dobian
AU - Mody Diop
AU - Salomé Pacaud
AU - Claire Dichamp
AU - Elisabeth Sarrazin
AU - Amaia Lasa-Aranzasti
AU - Eduardo Fidel Tizzano
AU - Ivon Cusco Marti
AU - Andrea Martin Nalda
AU - Ana Felipe-Rucián
AU - David Gómez-Andres
AU - Marta Codina-Solà
AU - Paula Fernandez
AU - Jacques Gabriel Riviere
PY - 2026
DA - 2026/09/01
JO - Genetics in Medicine
DO - 10.1016/j.gim.2026.102632
UR - https://hal.science/hal-05677804v1
SN - 1098-3600
SN - 1530-0366
ER -