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Molecular Genetics & Genomic Medicine|April 5, 2025
Identification of Compound Heterozygous Variants in OBSCN Gene Associated With Rhabdomyolysis: A Case ReportXiaolan Sun, Yong Chen, Jianmin Zhong, et al.
Molecular Genetics & Genomic Medicine|December 16, 2024
Screening of Inherited Retinal Disease Patients in a Low-Resource Setting Using an Augmented Next-Generation Sequencing PanelNicole Midgley, George Rebello, Lara K Holtes, et al.
Molecular Genetics & Genomic Medicine|November 26, 2024
A Novel Synonymous Variant in SQSTM1 Causes Neurodegeneration With Ataxia, Dystonia, and Gaze Palsy Revealed by Urine-Derived Cells-Based Functional AnalysisShinji Masuko, Mitsuto Sato, Katsuya Nakamura, et al.
Molecular Genetics & Genomic Medicine|November 22, 2024
Long-Read Sequencing Identifying the Genetic Complexity of Congenital Adrenal Hyperplasia in the PedigreeXimin Chen, Jing Zhao, Danhua Li, et al.
Molecular Genetics & Genomic Medicine|November 26, 2024
Parkinson's Disease Polygenic Risk Score and Neurological Involvement in Carriers of the FMR1 Premutation Allele: A Case for Genetic ModifierDanuta Z Loesch, Freddy Chafota, Minh Q Bui, et al.
Molecular Genetics & Genomic Medicine|November 26, 2024
Variability in Disease Severity in Siblings With Homozygous Missense Variant of ADSSL1: Clinical Genetic Study and Review of LiteraturesHui Wang, Ting Zhang, Yanming Xu, et al.
Molecular Genetics & Genomic Medicine|November 26, 2024
Performance of Dysmorphology-Based Screening for Genetic Disorders in Pediatric Congenital Heart Disease Supports Wider Genetic TestingBenjamin M Helm, Lindsey R Helvaty, Erin Conboy, et al.
Molecular Genetics & Genomic Medicine|November 16, 2024
Assessment of Myocardial Fibrosis in Marfan Syndrome Using Cardiac Magnetic Resonance ImagingAnthony Demolder, Dan Devos, Julie De Backer, et al.
Molecular Genetics & Genomic Medicine|November 12, 2024
SRY+ Derivative X Chromosome in a Female With Apparently Typical Sexual DevelopmentCasey J Brewer, Alyxis G Coyan, Nicki Smith, et al.
Molecular Genetics & Genomic Medicine|November 11, 2024
A Novel Splice Site Variant in COL6A1 Causes Ullrich Congenital Muscular Dystrophy in a Consanguineous Malian FamilyAlassane Baneye Maiga, Ibrahim Pamanta, Salia Bamba, et al.
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