Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease

Calame, D. G., Guo, T., Wang, C., Garrett, L., Jolly, A., Dawood, M., Kurolap, A., Henig, N. Z., Fatih, J. M., Herman, I., Du, H., Mitani, T., Becker, L., Rathkolb, B., Gerlini, R., Seisenberger, C., Marschall, S., Hunter, J. V., Gerard, A., … Lupski, J. R. (2023). Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease. The American Journal of Human Genetics, 110(8), 1394–1413. https://doi.org/10.1016/j.ajhg.2023.06.013
Authors:
Daniel G. Calame
Tianyu Guo
Chen Wang
Lillian Garrett
Angad Jolly
Moez Dawood
Alina Kurolap
Noa Zunz Henig
Jawid M. Fatih
Isabella Herman
Haowei Du
Tadahiro Mitani
Lore Becker
Birgit Rathkolb
Raffaele Gerlini
Claudia Seisenberger
Susan Marschall
Jill V. Hunter
Amanda Gerard
Alexis R. Heidlebaugh
Thomas D. Challman
Mario Saporta
Shalini N. Jhangiani
Zeynep Coban‐Akdemir
Seema R. Lalani
Lingxiao Liu
Anya Revah‐Politi
Alejandro Iglesias
Edwin R. Guzman
Evan Baugh
Nathalie Boddaert
Sophie Rondeau
Clothide Ormieres
Giulia Barcia
Ta C. Chang
Isabelle Thiffault
Tomi Pastinen
Kazim A. Sheikh
Suur Biliciler
Davide Mei
Federico Melani
Vandana Shashi
Yuval Yaron
Mary Steele
Emma Wakeling
Elsebet Østergaard
Lusine Nazaryan‐Petersen
Francisca Millan
Teresa Santiago‐Sim
Julien Thévenon
Ange‐Line Bruel
Christel Thauvin‐Robinet
Denny Popp
Konrad Platzer
Paweł Gawliński
Wojciech Wiszniewski
Dana Marafi
Davut Pehli̇van
Jennifer E. Posey
Richard A. Gibbs
Valérie Gailus‐Durner
Renzo Guerrini
Helmut Fuchs
Martin Hrabě de Angelis
Sabine M. Hölter
Hoi‐Hung Cheung
Shen Gu
James R. Lupski
Affiliated Authors:
Anya Revah‐Politi
Alejandro Iglesias
Edwin R. Guzman
Evan Baugh
Columbia Affiliation:
Subjects:
Charcot-Marie-Tooth Disease (MeSH)
Neurodevelopmental Disorders (MeSH)
Regulation of RNA Processing and Function (OpenAlex Topic)
Clustered Regularly Interspaced Short Palindromic Repeats and CRISPR-associated proteins (OpenAlex Topic)
Standards and Guidelines for Genetic Variant Interpretation (OpenAlex Topic)
Author Keywords:
allelic series
charcot-marie-tooth disease
dexd/h-box rna helicases
dhx9
dna damage repair
epilepsy
homologous recombination
neurodevelopmental disorders
neuropathy
r-loops
elink
Publication Type:
Article
Unique ID:
10.1016/j.ajhg.2023.06.013
PMID:
37467750
DOI:
10.1016/j.ajhg.2023.06.013
Journal:
American Journal of Human Genetics
Publication Date:
Data Source:
OpenAlex
Source Link:
View OpenAlex Record
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Record Created: