A tandem duplication of exon 42 of the DMD gene is a likely benign variant ...

8 Department of Pediatrics, University of Minnesota Medical School, Minneapolis, Minnesota, USA 9 Department of Genetics, Yale University School of Medicine, New Haven, Connecticut, USA Correspondence ...

1 Institut de Génétique et du Biologie Moleculaire et Cellulaire, CNRS INSERM, Université Louis Pasteur, Illkirch, CU de Strasbourg, France 2 Department of Clinical Genetics, Leicester Royal Infirmary ...

1 Research Programs Unit, Molecular Neurology, Biomedicum-Helsinki, University of Helsinki, Helsinki, Finland 2 Department of Pediatric Neurology, Hospital for Children and Adolescents, Helsinki ...

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1 Department of Clinical Genetics, Addenbrooke’s Hospital, Cambridge, UK 2 Department of Medicine, University of Cambridge, Addenbrooke’s Hospital Correspondence to: Dr S M Park Department of Clinical ...

5 Department of Biochemistry, American University of Beirut (AUB), Beirut, Lebanon 6 Department of Medical Genetics, Faculty of Medicine, St. Joseph University, Beirut, Lebanon Background Ostium ...

Correspondence to R F Kooy, Department of Medical Genetics, University of Antwerp, Universiteitsplein 1, 2610 Antwerp, Belgium; Frank.Kooy{at}ua.ac.be Fragile X syndrome, the main cause of inherited ...

Background Polygenic risk score (PRS), calculated based on genome-wide association studies (GWASs), can improve breast cancer (BC) risk assessment. To date, most BC GWASs have been performed in ...

Background Fabry disease results from deficient α-galactosidase A activity and globotriaosylceramide accumulation causing renal insufficiency, strokes, hypertrophic cardiomyopathy and early demise. We ...

Genomic technologies have transformed clinical genetic testing, underlining the importance of accurate molecular genetic diagnoses. Variant classification, ranging from benign to pathogenic, is ...

Variations in new splicing regulatory elements are difficult to identify exclusively by sequence inspection and may result in deleterious effects on precursor (pre) mRNA splicing. These mutations can ...