Mosaic neurofibromatosis type 1 (NF1) poses a significant diagnostic challenge due to low-level mosaicism and the confinement of pathogenic variants to neuroectodermal lineages, frequently resulting ...

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 ...

Methods Our qualitative interview study examined the views and reflections on current practice provided by UK practitioners working in clinical genetics (n=20) regarding the potential impact of ...

Dr D Craig, Division of Psychiatry and Neuroscience, School of Medicine and Dentistry, Queen’s University Belfast, Whitla Medical Building, 97 Lisburn Road, Belfast BT9 7BL, Northern Ireland; ...

Department of Neurology, School of Neurosciences and Psychiatry, The Medical School, University of Newcastle Upon Tyne, UK Correspondence to: Dr P F Chinnery, Department of Neurology, School of ...

Purpose To determine the impact of additional genetic screening techniques on the rate of detection of pathogenic variants leading to familial NF2-related schwannomatosis. Methods We conducted genetic ...

Variations in new splicing regulatory elements are difficult to identify exclusively by sequence inspection and may result in deleterious effects on precursor (pre) mRNA splicing. These mutations can ...

Age related macular degeneration (AMD) is the leading cause of visual impairment in the elderly and a major cause of blindness in the developed world. The disease can take two forms, geographic ...