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Molecular Genetics & Genomic Medicine|November 6, 2025
Exome Sequencing Identifies a Novel Splicing Variant in COL9A3 Resulting in Multiple Epiphyseal Dysplasia: A Case ReportBashayer Alnuaimi, Valancy Miranda, Anne Marie Sbrocchi, et al.
Molecular Genetics & Genomic Medicine|July 15, 2025
A Novel Intronic Mutation in MBD5 Results in Autosomal Dominant Intellectual Disability Type 1 due to Abnormal SplicingHeng Jiang, Jingjing Mou, Qiwei Zhao, et al.
Molecular Genetics & Genomic Medicine|October 13, 2025
A Case Report and Literature Review on Osteo-Oto-Hepato-Enteric Syndrome in Premature Infants Caused by UNC45A DeficiencyZhengda Sun, Qijun Song, Ziyue Zhang, et al.
Molecular Genetics & Genomic Medicine|May 15, 2025
A new syndromic case of hearing loss and ectodermal anomalies associated with a recurrent missense variation in GJB6 geneBadreddine Elmakhzen, Paul Rollier, Clémence Saillard, et al.
Molecular Genetics & Genomic Medicine|July 19, 2025
Biallelic Mutations in the Otogelin-Like Gene (OTOGL) Associated With Congenital Non-Syndromic Sensorineural Hearing Loss in a Chinese FamilyXiang Dai, Jun Li, Xijiang Hu, et al.
Molecular Genetics & Genomic Medicine|July 11, 2025
Yield of Genetic Testing in Pediatric Cardiomyopathies: Implications for Novel Therapeutic OptionsAdelaide Ballerini, Francesca Girolami, Alessia Gozzini, et al.
Molecular Genetics & Genomic Medicine|July 24, 2025
Three Siblings With an Attenuated Presentation of Perlman Syndrome: A Case Report and Literature ReviewAlayne P Meyer, Daniel C Koboldt, Swetha Ramadesikan, et al.
Molecular Genetics & Genomic Medicine|October 15, 2025
Array of Testing Characterizes Prenatal Diagnosis of Mosaic Tetrasomy 9p24q22.3 Associated With an Unusually Mild Phenotype and Favourable OutcomeCrystle Lee, Ellen Casey, David J Amor
Molecular Genetics & Genomic Medicine|October 3, 2025
A Novel Missense Variant of the ABCD1 Gene in X-Linked Adrenoleukodystrophy in Chinese FamilyHongxia Fu, Lu Han, Xianhong Liu, et al.
Molecular Genetics & Genomic Medicine|February 15, 2026
Pathogenic Variants and Olipudase Alfa Treatment of Patients With Acid Sphingomyelinase Deficiency in TaiwanHsu-Heng Lin, Hui-An Chen, Shyh-Jer Lin, et al.
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