3 Manchester Centre for Genomic Medicine, St Mary’s Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK Methods An international group of experts created ...

Background Axenfeld-Rieger syndrome (ARS) is characterised by typical anterior segment anomalies, with or without systemic features. The discovery of causative genes identified ARS subtypes with ...

Background Pathogenicity predictors are integral to genomic variant interpretation but, despite their widespread usage, an independent validation of performance using a clinically relevant dataset has ...

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 ...

Background Approximately 10% of gastric cancers (GCs) are associated with strong familial clustering and can be attributed to genetic predisposition. Homologous recombination deficiency (HRD) leads to ...

Background Caring for children with pathogenic neurodevelopmental Copy Number Variants (CNVs) (ie, deletions and duplications of genetic material) can place a considerable burden on parents and their ...

Correspondence to Professor Barbara Plecko, Department of Pediatrics and Adolescent Medicine, Medical University of Graz, Graz, Austria; barbara.plecko{at}medunigraz.at; Dr Katta M Girisha, Department ...

Correspondence to Dr. A S Paul van Trotsenburg, Department of Paediatric Endocrinology, Academic Medical Center, Emma Children’s Hospital, University of Amsterdam, Amsterdam, The Netherlands; ...

Correspondence to Professor Eva Brand, Internal Medicine D, Department of Nephrology, Hypertension and Rheumatology and Interdisciplinary Fabry Center Münster (IFAZ), University Hospital Münster, ...

If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be ...

Purpose and scope The aim of this position statement is to provide recommendations for Canadian healthcare professionals regarding the use of genome-wide sequencing (GWS) in the context of diagnostic ...

Background Adolescent idiopathic scoliosis (AIS), the predominant genetic-influenced scoliosis, results in spinal deformities without vertebral malformations. However, the molecular aetiology of AIS ...