Understanding the pathogenesis of brain arteriovenous malformation: genetic variations, epigenetics, signaling pathways, and immune inflammation Shiyi WangXinpeng DengYi Huang Review 28 September 2023 Pages: 1633 - 1649
Functional implications of paralog genes in polyglutamine spinocerebellar ataxias Daniela FelícioTanguy Rubat du MéracSandra Martins Review Open access 16 October 2023 Pages: 1651 - 1676
CRISPR/Cas-based gene editing in therapeutic strategies for beta-thalassemia Shujun ZengShuangyin LeiPing Huang Review 25 October 2023 Pages: 1677 - 1703
KAT6A mutations in Arboleda-Tham syndrome drive epigenetic regulation of posterior HOXC cluster Meghna SinghSarah J. SpendloveValerie A. Arboleda Original Investigation Open access 20 October 2023 Pages: 1705 - 1720
Comprehensive evaluation of the implementation of episignatures for diagnosis of neurodevelopmental disorders (NDDs) Edoardo GiuiliRobin GrolauxMatthieu Defrance Original Investigation Open access 27 October 2023 Pages: 1721 - 1735
Genetic spectrums and clinical profiles of critically ill neonates with congenital auricular deformity in the China Neonatal Genomes Project Feifan XiaoBingbing WuWenhao Zhou Original Investigation 08 November 2023 Pages: 1737 - 1745
Machado-Joseph disease in a Sudanese family links East Africa to Portuguese families and allows reestimation of ancestral age of the Machado lineage Sandra MartinsAshraf YahiaJorge Sequeiros Original Investigation Open access 14 November 2023 Pages: 1747 - 1754
Phenotypic correlates of structural and functional protein impairments resultant from ALDH5A1 variants Itay Tokatly LatzerJean-Baptiste RoulletPhillip L. Pearl Original Investigation 14 November 2023 Pages: 1755 - 1776