DICER1-related tumour predisposition (DRTP) is an autosomal dominant disorder marked by increased risk of benign and malignant tumours across multiple organ systems. A genetic diagnosis of DRTP ...

8 Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK Background Silver-Russell syndrome is an imprinting disorder that restricts growth, resulting in short adult stature that ...

Genomic technologies have transformed clinical genetic testing, underlining the importance of accurate molecular genetic diagnoses. Variant classification, ranging from benign to pathogenic, is ...

Division of Dermatopharmacology, Department of Dermatology, The Warren Alpert Medical School of Brown University, Providence, Rhode Island, USA K H Kraemer, DNA Repair Section, Basic Research ...

Background Knowing the genetic status of patients affected by paragangliomas and pheochromocytomas (PPGL) is important for the guidance of their management and their relatives. Our objective was to ...

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 ...

* Members of the consortia are listed in the Supplemental Appendix. Background The recurrent ∼600 kb 16p11.2 BP4-BP5 deletion is among the most frequent known genetic aetiologies of autism spectrum ...

Correspondence to Professor Rebecca C Fitzgerald, MRC Cancer Unit, Hutchison/MRC Research Centre, University of Cambridge, Hills Road, Cambridge CB2 OXZ, UK; rcf29{at}MRC-CU.cam.ac.uk Increasing ...

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 ...

Reverse haplotyping: taking full advantage of 25% risk testing for the 50% at-risk parent in Huntington’s disease ...

Correspondence to Dr Daryl A Scott, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; dscott{at}bcm.edu Background Congenital diaphragmatic hernia (CDH) ...

Dr A Botta, Tor Vergata University of Rome, Department of Biopathology, Via Montpellier, 1, 00133 Rome, Italy; abottait{at}yahoo.it Aim: To investigate the effects of CTG expansion length on three ...