Background Next-generation sequencing of cancer predisposition genes is routinely used in hereditary cancer diagnostics.

Background Preconception genetic screening is a key preventive strategy for identifying at-risk couples (ARCs) of inherited disorders and supporting informed reproductive decision-making. However, ...

This document is written on behalf of the two professional bodies in the UK that represent genetic counsellors (the Association of Genetic Nurses and Counsellors (AGNC)) and clinical geneticists (the ...

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 ...

7 Department of Child Health, University of Missouri School of Medicine, Columbia, Missouri, USA 8 Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of ...

1 MD/PhD and Experimental Medicine Programs, University of British Columbia and the British Columbia Research Institute for Children’s and Women’s Health, Vancouver, British Columbia, Canada 2 ...

Integrated D4Z4 structural, epigenetic and exome-based evaluation of facioscapulohumeral muscular dystrophy in a tertiary referral cohort from Türkiye ...

Background Diagnosis of a child with a genetic condition leads to parents asking whether there is a risk the condition could occur again with future pregnancies. If the cause is identified as an ...

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 ...

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 ...

1 Division of Respirology, Department of Medicine, St Michael's Hospital, University of Toronto, Toronto, Ontario, Canada 2 Li Ka Shing Knowledge Institute, St Michael's Hospital, University 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; ...