Background: Infantile cardiomyopathy is a genetically heterogeneous disorder with significant morbidity and mortality. Methods: This study aimed to identify the mutation present in four unrelated ...

Bipolar disorder (also known as manic depressive illness) is a complex genetic disorder in which the core feature is pathological disturbance in mood (affect) ranging from extreme elation, or mania, ...

Purpose Genome sequencing (GS) is expected to reduce the diagnostic gap in rare disease genetics. We aimed to evaluate a scalable framework for genome-based analyses ‘beyond the exome’ in regular care ...

Accurate prenatal diagnosis of facioscapulohumeral muscular dystrophy 1 using nanopore sequencing ...

Mosaicism introduces wide variability into the clinical expression of numerical and unbalanced structural chromosomal abnormalities. The phenotypic range of variability of 45,X/46,XY mosaicism extends ...

A family study of bilateral renal agenesis was undertaken based on 103 patients with bilateral renal agenesis, ascertained through stillbirth and neonatal death certificates, and confirmed by necropsy ...

Correspondence to Hildegard Kehrer-Sawatzki, Institute of Human Genetics, University of Ulm, Albert-Einstein-Allee 11, 89081 Ulm, Germany; hildegard.kehrer-sawatzki{at}uni-ulm.de Conclusion These ...

Primary ciliary dyskinesia (PCD; Immotile cilia syndrome; OMIM 242650) is an autosomal recessive disorder resulting from dysmotility of cilia and sperm flagella. 1 Cilia and flagella function either ...

London Centre for Paediatric Endocrinology and Metabolism, Great Ormond Street, Hospital for Children NHS Trust, and The Institute of Child Health, University College London, London, UK Dr K Hussain, ...

a Laboratory of Paediatric Molecular Biology, Department of General Paediatrics, Charité University Hospital, Humboldt University, D-10098 Berlin, Germany, b Department of Pediatrics and Munroe Center ...

Correspondence to Dr Guoan Zhao, The Cardiovascular ResearchCenter of the First Affiliated Hospital of Xinxiang Medical University, Xinxiang City 453003, China; zhaoguoan16{at}126.com Heart failure, ...

Correspondence to: Dr J R Vermeesch, UZ Gasthuisberg, Herestraat 49, B-3000 Leuven, Belgium; Joris.Vermeesch{at}med.kuleuven.ac.be While several case reports describe partial trisomy 12qter, reports ...