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Articles by Devon E. Bonner
Publisher Correction: Biallelic variants in RNU2-2 cause the most prevalent known recessive neurodevelopmental disorder
Correction to: Nature Genetics https://doi.org/10.1038/s41588-026-02539-5, published online 30 March 2026. In the version of the article initially published, in Fig. 5a, the arrow at position 52 from “G” to “A” was missing. In Fig. 5b, the arrow at position 8 from “C” to “U” was missing, the “80” label at position 90 should have read “90”, and the “1,160” label at position 160 should have read “160”. These corrections have been made to the HTML and PDF versions of the article.
Biallelic variants in RNU2-2 cause the most prevalent known recessive neurodevelopmental disorder
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Abstract We recently showed that mutations in the snRNA genes RNU4-2 and RNU2-2 are prevalent causes of dominant neurodevelopmental disorders (NDDs). Here, by genetic association, we demonstrate the existence of a recessive form of RNU2-2 syndrome.
By Daniel Greene, Rodrigo Mendez Verified, Rodrigo Matías Méndez, Jon Lees Verified, Mafalda Barbosa, Alessandro Bruselles, Luigi Chiriatti, Federico Ferraro, Cecilia Mancini, Rachel Schot, Frank Sleutels, Enrico Bertini, Devon E. Bonner, Arjan Bouman, Alice Brooks, Thomas A. Cassini, Kimberly Ezell, Natalia Gomez-Ospina, Michael F. O’Donoghue, Lynette Rives, Vandana Shashi, Rebecca C. Spillmann, Mohamed Wafik, Kathleen Freson, Tahsin Stefan Barakat, Marco Tartaglia, Jonathan Bernstein, Andrew Mumford, Matthew Wheeler, Ernest Turro
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Nature
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DNASE1L3 Deficiency With Novel Missense Variant: Enzymatic and Plasma Fragmentomic Evidence of Pathogenicity and Partial Response to JAK Blockade
INTRODUCTION Deoxyribonuclease 1-like 3 (DNASE1L3), also known as DNase γ, DNase Y, or LS-DNase, is a secreted endonuclease of the DNASE1 family. It is mainly expressed by macrophages and dendritic cells and circulates in plasma as a dominant extracellular nuclease. DNASE1L3 uniquely binds and degrades chromatin as well as protein- or lipid-complexed DNA, efficiently digesting nucleosomal DNA, DNA within immune complexes, and membrane-bound DNA released during apoptosis.
De novo variants in KDM2A cause a syndromic neurodevelopmental disorder
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Keywords KDM2A neurodevelopmental disorder epigenetic machinery Introduction The epigenetic machinery encompasses proteins that function as writers, erasers, readers, and remodelers of epigenetic marks on DNA and histones. The eraser KDM2A removes mono- and di-methylation from histone 3 at lysine 36 (H3K36).
By Eric Anderson, Stephan Holger Drukewitz, Sukhleen Kour, Deepa Rajan, Karen Stals, Deirdre Donnelly, Tiong Y. Tan, Zornitza Stark, Pia Zacher, Nicolas Chatron, Séverine Drunat, Yoann Vial, Xenia Latypova, Jonathan Levy, Alain Verloes, Jennefer N. Carter, Devon E. Bonner, Suma P. Shankar, Jonathan Bernstein, Julie Cohen, Anne M. Comi, Deanna Alexis Carere, Lisa Dyer, Sureni V. Mullegama, Pedro A. Sanchez-Lara, Katheryn Grand, Hyung-Goo Kim, Afif Ben-Mahmoud, Sidney M. Gospe, Gary Bellus, Renske Oegema, Anita Rauch, Ivan Ivanovski, Frédéric Tran Mau-Them, Aurore Garde, Rachel A. Rabin, John Pappas, Annette E. Bley, Timo Wagner, Eva L. Decker, Carsten Bergmann Verified, Henri Margot, Johannes R. Lemke, Rami Abou Jamra, Julia Hentschel, Heather C Mefford, Amit Singh, Udai Bhan Pandey, Konrad Platzer, Anuradha V. Chimata, Senta Schönnagel, John F. Mantovani, Pauline Monin, Rebecca S. Belles, Klaske D. Lichtenbelt, Janna Bredow, Louis Domenach
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The American Journal of Human Genetics
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Transcriptome-wide outlier approach identifies individuals with minor spliceopathies
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Keywords rare disease splicing minor spliceosome RNA-seq RNU4ATAC RNU6ATAC spliceosome RNA sequencing transcriptome wide spliceopathy Get full text access Log in, subscribe or purchase for full access. References 1. Health, T.L.G. The landscape for rare diseases in 2024 Lancet. Glob. Health. 2024; 12, e341 2. United Kingdom. 1999. Regulation (EC) no. 141/2000 of the European Parliment and of the council of 16 December 1999 on orphan medicinal products. J. Eur. Communities L 2000;18:1–5.
By Rodrigo Mendez Verified, Rodrigo Matías Méndez, Rachel A Ungar, Dena Matalon, Gabrielle Lemire, Page Goddard, Evin M. Padhi, Alexander Miller, Jonathan Nguyen, Kevin Smith, Stuart Scott, Linda M. Liao, Shruti Marwaha, Guney Bademci, Stephanie A. Bivona, Mustafa Tekin, Jonathan Bernstein, Stephen Montgomery, Anne H. O’Donnell-Luria, Matthew Wheeler, Vijay Ganesh, Taylor M. Arriaga, Devon E. Bonner, Jialan Ma, Zena Ng
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The American Journal of Human Genetics
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