Institute of Molecular Medicine, John Radcliffe Hospital, Headington, Oxford, UK. We describe three families segregating different reciprocal chromosome ...

Background: Double outlet right ventricle (DORV), a clinically significant congenital heart defect, occurs in 1–3% of individuals with congenital heart defects. In contrast to other major congenital ...

56 CNAG-CRG, Centre for Genomic Regulation (CRG), Barcelona Institute of Science and Technology (BIST); Universitat Pompeu Fabra (UPF), Barcelona, Spain 57 Unité de Neurophysiologie Clinique, Centre ...

Wilms tumour has been reported in association with over 50 different clinical conditions and several abnormal constitutional karyotypes. Conclusive evidence of an increased risk of Wilms tumour exists ...

2 West Midlands Regional Genetics Service, Birmingham Women’s and Children’s NHS Foundation Trust, Birmingham, UK Background Identification of CNVs through chromosomal microarray (CMA) testing is the ...

1 Genetic Medicine, The University of Manchester, Manchester Academic Health Science Centre, St Mary's Hospital, Central Manchester Hospitals Foundation Trust, Manchester, UK 2 Health Sciences, School ...

Correspondence to Holger Langhof, QUEST-Center for Transforming Biomedical Research, Charité – University Medicine, Berlin Institute of Health (BIH), Berlin 10178, Germany; ...

Background Multigene panel testing by next-generation sequencing (MGP-NGS) enables the detection of germline pathogenic or likely pathogenic variants (PVs/LPVs) in genes beyond those associated with a ...

Correspondence to Dr Robert J Desnick, Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, Fifth Avenue and 100th Street, Box 1498, New York, NY 10029, USA; ...

The diagnosis of Marfan syndrome (MFS) relies on defined clinical criteria (Ghent nosology), outlined by international expert opinion to facilitate accurate recognition of this genetic aneurysm ...

1 Oxford Project To Investigate Memory and Ageing, Oxford Centre for Gene Function, University Department of Physiology, Anatomy and Genetics, Oxford, UK 2 Department of Haematology, School of ...

A clinical study of patients on the North West Regional Genetic Register with neurofibromatosis type 1 (NF1) identified 523 affected cases from 304 families. In those for whom relevant information was ...