Objectives: To describe the clinical findings and natural history in 22 carriers of an R460H mutation in the transforming growth factor β receptor 2 gene (TGFβR2) from a five-generation kindred ...

Bardet-Biedl syndrome (BBS) is an autosomal recessive condition characterised by rod-cone dystrophy, postaxial polydactyly, central obesity, mental retardation, hypogonadism, and renal dysfunction.

Objective: To describe the systematic analysis of constitutional de novo apparently balanced translocations in patients presenting with abnormal phenotypes, characterise the structural chromosome ...

A human genetics journal publishing original research, reviews and opinions on the latest developments. Articles cover the molecular basis of human disease.

Introduction CNV is a vital pathogenic factor of congenital heart disease (CHD). However, few CNVs have been reported for total anomalous pulmonary venous connection (TAPVC), which is a rare form of ...

Homologous recombination deficiency in unselected cases of high-grade ovarian carcinoma ...

Neurofibromatosis 1 (NF1) is a common neurocutaneous condition with an autosomal dominant pattern of inheritance. The complications are diverse and disease expression varies, even within families.

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 ...

Editor—Cri du chat syndrome (CdCS) is one of the more common deletion syndromes, involving the short arm of chromosome 5, with an incidence of 1 in 50 000 live births. Classically, patients with this ...

Background Neurofibromatosis type 1 (NF1) is one of the most frequent genetic disorders. NF1 is caused by dominant loss-of-function pathogenic variants (PVs) of the tumour-suppressor gene NF1 , which ...

In the UK, most patients receive publicly funded medical care through the National Health Service (NHS), which funds tumour and/or germline testing for eligible patients with cancer to inform clinical ...

Background Facioscapulohumeral muscular dystrophy 1 (FSHD1) is one of the most common autosomal dominant neuromuscular diseases. Genetic diagnosis of FSHD1 remains a challenge because of the long ...