9 Unidad de Reproducción Humana y Cirugía Endoscópica, Instituto para el Estudio de la Biología de la Reproducción Humana (INEBIR), Sevilla, Spain Correspondence to Dr Mario D Cordero, IBiS Institute ...

1 Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia 2 Department of Pediatrics, King Khalid University Hospital, College of Medicine, King Saud ...

Background We aimed to identify rare (minor allele frequency ≤1%), potentially pathogenic non-synonymous variants in a well-characterised cohort with a clinical history of exertional heat illness (EHI ...

Neurodevelopmental delay, musculoskeletal disorders and dysmorphia associated with a novel pathogenic interstitial deletion of chromosome 10q21.1q21.3 ...

Background The Ehlers-Danlos syndromes (EDS) are heritable disorders of connective tissue (HDCT), reclassified in the 2017 nosology into 13 subtypes. The genetic basis for hypermobile Ehlers-Danlos ...

Background The findings of variants of uncertain significance (VUS) on a clinical genetic testing report pose a challenge for attending healthcare professionals (HCPs) in patient care. Here, we ...

12 Cancer Research UK Familial Gastric Cancer Study, University Department of Oncology, Addenbrooke's Hospital, Cambridge, UK 13 Cancer Research UK Cambridge Research Institute and Department of ...

2 Centre for Imaging Sciences, Institute of Population Health, University of Manchester, Manchester, UK Correspondence to Dr Stavros M Stivaros, Academic Department of Paediatric Radiology, Children's ...

The inactivation of programmed cell death has profound effects not only on the development but also on the overall integrity of multicellular organisms. Beside developmental abnormalities, it may lead ...

Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are imprinting disorders caused by genetic or epigenetic aberrations of 15q11.2-q13. Their clinical testing is often multitiered; diagnostic ...

OBJECTIVES To determine the natural history of Anderson-Fabry disease (AFD) as a baseline for efficacy assessment of potentially therapeutic drugs. DESIGN The first large cross sectional study of a ...

1 Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Sciences Centre, St Mary's Hospital, Manchester, UK Background ...