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 ...

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 ...

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 ...

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 ...

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 ...

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 ...

Institute of Human Genetics, University of Newcastle upon Tyne, Newcastle upon Tyne, UK Correspondence to: Dr Anne Lampe Institute of Human Genetics, University of Newcastle upon Tyne, International ...

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

1 Laboratory of Human Molecular Genetics, Christian de Duve Institute of Cellular Pathology and Universite catholique de Louvain, Avenue Hippocrate 74+4, Brussels, Belgium 2 Centre for Human Genetics, ...

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 ...

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 ...

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 ...