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Human Mutation|October 17, 2026
Next-Generation Sequencing to Identify Genetic Causes of Chinese Patients Affected With Non-retinal Developmental Eye DisordersXiaozhen Liu, Ruixuan Jia, Yaning Zhao, et al.
Human Mutation|August 25, 2026
CDKN3, PKP2, ADM, MS4A1, FAM83A, and DKK1 Define a Posttranslational Modification (PTM)-Associated Prognostic Model for Lung AdenocarcinomaZhi Liu, Gang Li, Ling Lin
Human Mutation|August 26, 2026
A Novel Homozygous Mutation in ARL2BP Causes Multiple Morphological Abnormalities of the Flagella and Primary Ciliary DyskinesiaMing Li, Wen Tao, Qingshan Ji, et al.
Human Mutation|September 4, 2026
Phenotypes of Hereditary Diseases Associated With Rauch-Steindl SyndromeYi Kong, Yousheng Wang, Xingwang Wang, et al.
Human Mutation|September 8, 2026
Association Between Mutation Context-Associated RUNX1 Transcriptional States and Immune-Stromal Heterogeneity in Nonsmall Cell Lung CancerJinyao Wang, Shuang Li, Jingjing Zhou, et al.
Human Mutation|September 3, 2026
Human Variation-Informed Prioritization of MPHOSPH6 in Lung Adenocarcinoma: A Source-Aware Multiomics Evidence FrameworkChongwen Fang, Min Wu, Jing Lv, et al.
Human Mutation|September 18, 2026
Infantile Epileptic Spasm Syndrome Caused by TAF1 Missense Variants: Expanding the Epileptic Phenotype and Revealing Underlying Impairments in Neuronal Excitability and DevelopmentHui Xiao, Changning Xie, Pan Peng, et al.
Human Mutation|September 19, 2026
Zygosity-Dependent Phenotypic Spectrum of RELN-Related Disorders: 10 New Patients and Genotype-Phenotype Correlations Across 48 KindredsSajjad Biglari, Halimeh Rezaei, Elnaz Asadollahzadeh, et al.
Human Mutation|October 2, 2026
A De Novo Arg649Trp Variant in GluA2 Impairs Its Assembly With GluA1: Associated With Epilepsy and Neurodevelopmental DisordersJing-Wen Chen, Ying-Chun Lin, Ping Hu, et al.
Human Mutation|October 27, 2026
Integrated Multiomics and Functional Validation Identify CLSPN as a Central Integrator of Genomic Instability and Immune Remodeling in Colorectal CancerPeng Wang, Jianyu Xia, Lexin Wang, et al.
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