Background For female patients with Lynch syndrome (LS), endometrial cancer (EC) is often their first cancer diagnosis. A testing pathway of somatic tumour testing triage followed by germline mismatch ...

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 ...

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 ...

The trace metal copper is essential for a variety of biological processes, but extremely toxic when present in excessive amounts. Therefore, concentrations of this metal in the body are kept under ...

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 ...

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, ...

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, ...

1 Divison of Pediatric Hematology-Oncology, Department Pediatrics and Adolescent Medicine, Medical University Graz, Graz, Austria 2 Divison of Neonatology, Paediatric Intensive Care & Neuropaediatrics ...

Correspondence to: Dr A Pandya, Department of Human Genetics, Medical College of Virginia, PO Box 980033, Richmond, VA 23298, USA; apandya{at}hsc.vcu.edu Another recent study of attitudes toward ...

* Department of Pathology, West Virginia University, PO Box 9203, Morgantown, WV 26506-9203, USA † Department of Obstetrics/Gynecology, West Virginia University, Morgantown, WV, USA ‡ Department of ...