Friedreich ataxia, an autosomal recessive neurodegenerative disease, is the most common of the inherited ataxias. The recent discovery of the gene that is mutated in this condition,FRDA, has led to ...

Background This study investigates the genotype-phenotype correlation associated with a recurrent der(17) rearrangement combining a 19p13.3 duplication and a 17q25.3 deletion and evaluates whether the ...

Safety and efficacy of AAV-based mini- and micro-dystrophin gene therapies in Duchenne muscular dystrophy: a systematic review and meta-analysis of clinical trials ...

Correspondence to Dr Tuula Rinne, Department of Human Genetics, Radboud University Medical Center, Nijmegen 6500HB, Netherlands; tuula.rinne{at}radboudumc.nl Background This study evaluates 6 years of ...

1 Neurogenetics Unit, Montreal Neurological Hospital and Institute, and the Department of Neurology and Neurosurgery, McGill University, Montreal, Quebec, Canada 2 Neurogenetics Unit, Montreal ...

1 Biochemistry, Endocrinology and Metabolism Unit, Institute of Child Health, University College London, 30 Guilford Street, London WC1N 1EH, UK 2 Chemical Pathology, Great Ormond Street Hospital for ...

Objectives To determine if the anatomical severity of oral clefting affects familial recurrence in a large population based sample. To provide reliable recurrence risk estimates for oral cleft for ...

7 Shenzhen People’s Hospital, Second Clinical Medical College of Jinan University, Shenzhen, China Background To better understand the pathogenesis of cervical cancer (CC), we systematically analysed ...

Background Tumour testing for microsatellite instability (MSI) or mismatch repair deficiency (dMMR) is used to screen for Lynch syndrome (LS) and as a biomarker for response to immune checkpoint ...

Background Dysregulation of the RAS-mitogen-activated protein kinase signalling pathway underlies RASopathies, a family of ...

5 St George’s University Hospitals NHS Foundation Trust, London, UK Variants of possible constitutional origin are frequently identified during analysis of tumour-derived DNA. Building on the European ...

Introduction Rapid advances in whole-exome sequencing (WES) have enabled large-scale detection of pathogenic variants. Although hundreds of genes are implicated in hearing loss, up to half of ...