Correspondence to Dr Konark Mukherjee, Genetics, The University of Alabama at Birmingham Heersink School of Medicine, Birmingham, AL 35233, USA; konark{at}vtc.vt.edu Background Pontocerebellar ...

Background Familial intestinal gastric cancer (FIGC) remains genetically unexplained and without testing/clinical criteria. Herein, we characterised the age of onset and disease spectrum of 50 FIGC ...

Correspondence to Dr Yun Yuan, Department of Neurology, Peking University First Hospital, Beijing, China; yuanyun2002{at}126.com; Dr Sushan Luo, Department of Neurology, Huashan Hospital Fudan ...

Rare diseases are collectively common and often extremely debilitating. Following the emergence of next-generation sequencing (NGS) technologies, the variants underpinning rare genetic disorders are ...

1 Department of Neurology, Hokkaido University Graduate School of Medicine, Sapporo, Japan 2 Department of Pediatrics, Hokkaido University Graduate School of Medicine, Sapporo, Japan Correspondence to ...

Extent of investigation and management of cases of ‘unexplained’ mismatch repair deficiency (u-dMMR): a UK Cancer Genetics Group consensus ...

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 Luke C Pilling, Department of Clinical and Biomedical Sciences, University of Exeter, Exeter, EX1 2LU, UK; L.Pilling{at}exeter.ac.uk; Luigi Ferrucci, Translational Gerontology Branch ...

Background Fabry disease is an X-linked lysosomal storage disorder resulting from deficiency of the alpha-galactosidase A enzyme leading to accumulation of globotriaosylceramide in multiple organ ...

3 Human Genetics Unit, Molecular Medicine Centre, Western General Hospital, Edinburgh, UK 4 Molecular Medicine Unit, St James Hospital, Leeds, UK 5 Department of Molecular Genetics, Sheffield Children ...

Department of Cytogenetics, Royal Manchester Children's Hospital, Pendlebury, Manchester. We report two de novo cases of del(8)(pter----q24.1:) with breakpoints involving the distal part of band ...

1 Institute of Genomic and Personalized Medicine, College of Life Science and Technology, Huazhong University of Science and Technology, Wuhan, Hubei, China 2 Wuhan Women and Children Hospital, Wuhan, ...