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Human Mutation|April 14, 2025
Genotype/Phenotype Relationship: Lessons From 137 Patients With PMM2-CDGSander Pajusalu, Mari-Anne Vals, Mercedes Serrano, et al.
Human Mutation|April 14, 2025
Functional Characterization of Novel Lunatic Fringe Variants in Spondylocostal Dysostosis Type-III with ScoliosisParker Wengryn, Karina da Costa Silveira, Connor Oborn, et al.
Human Mutation|April 14, 2025
Reasons and Resolutions for Inconsistent Variant InterpretationLiling Lin, Hong Pan, Yu Qi, et al.
Human Mutation|April 14, 2025
Disruption of OVOL2 Distal Regulatory Elements as a Possible Mechanism Implicated in Corneal Endothelial DystrophyLubica Dudakova, Lenka Noskova, Stanislav Kmoch, et al.
Human Mutation|April 14, 2025
Frequency and Functional Characterization of RUNX1 Germline Variants in Myeloid NeoplasmsNikolaj Juul Nitschke, Marwa Almosailleakh, Yiyuan Niu, et al.
Human Mutation|April 14, 2025
Evaluation in Monogenic Diabetes of the Impact of GCK, HNF1A, and HNF4A Variants on Splicing through the Combined Use of In Silico Tools and Minigene AssaysDelphine Bouvet, Amélie Blondel, Jean-Madeleine de Sainte Agathe, et al.
Human Mutation|April 14, 2025
Evaluating the Utility of a New Pathogenicity Predictor for Pediatric CardiomyopathyAlyssa L Rippert, Sarah Trackman, Danielle Burstein, et al.
Human Mutation|April 14, 2025
Novel Pathogenic Variants in POLR3K Cause POLR3-Related LeukodystrophyStefanie Perrier, Julia Macintosh, Agata D Misiaszek, et al.
Human Mutation|April 14, 2025
Clinical and Genetic Characteristics of Two Cases With Developmental and Epileptic Encephalopathy 93 Caused by Novel ATP6V1A Mutations and Literature ReviewJian Ma, Hongwei Zhang, Yuqiang Lv, et al.
Human Mutation|April 14, 2025
Variants in CAPN3 Causing Autosomal Dominant Limb-Girdle Muscular Dystrophy Combined With Calpain-3 DeficiencyThomas Krag, Emily Nasho, Lauren Brady, et al.
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