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

Phenome-wide association study (PheWAS) has been increasingly used to identify novel genetic associations across a wide spectrum of phenotypes. This systematic review aims to summarise the PheWAS ...

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 ...

Background Pallister-Killian syndrome is a rare, sporadic condition caused by mosaic tetrasomy of the short arm of chromosome 12 (12p). The main features are intellectual disability, seizures, ...

Correspondence to Dr Annabel Goodwin, Cancer Genetics, Royal Prince Alfred Hospital, Camperdown, NSW 2050, Australia; annabel.goodwin{at}health.nsw.gov.au Twenty-one genes in the Fanconi anaemia (FA) ...

Background The NHS Jewish BRCA Testing Programme is offering germline BRCA1 and BRCA2 genetic testing to people with ≥1 Jewish grandparent. Who have an increased likelihood of having an Ashkenazi ...

1 Academic Unit of Human Development and Health, Human Genetics and Genomics Medicine group, Faculty of Medicine, University of Southampton, Southampton, UK 2 Wessex Clinical Genetics Service, ...

Correspondence to Professor Sahar Mansour, SW Thames Regional Genetics Service, University of London St George's Molecular and Clinical Sciences Research Institute, London, UK; smansour{at}sgul.ac.uk ...

4 Istituto di Genetica e Biofisica “A. Buzzati-Traverso”, CNR, Napoli, Italy Correspondence to Giovanni Neri, Istituto di Genetica Medica, Università Cattolica Sacro Cuore, Policlinico “A.Gemelli”, ...

‡Department of Paediatrics, Royal Preston Hospital, Preston PR2 9HT, UK Dr Slavotinek, National Human Genome Research Institute, National Institutes of Health, Room 4B75, Bldg 49, 49 Convent Drive, ...

Background De novo mutations in PURA have recently been described to cause PURA syndrome, a neurodevelopmental disorder characterised by severe intellectual disability (ID), epilepsy, feeding ...

Correspondence to: Dr A V Ivanova Laboratory of Immunobiology, Basic Research Program, SAIC-Frederick Inc, NCI-Frederick, Maryland 21702, USA; ivanovamail.ncifcrf.gov Background: STRA13 is a bHLH ...