Adenosine deaminases acting on RNA (ADARs) catalyze the hydrolytic deamination of
adenosine to inosine in double-stranded RNA (dsRNA) and thereby potentially alter the …

Aicardi-Goutières syndrome is a mendelian mimic of congenital infection and also shows
overlap with systemic lupus erythematosus at both a clinical and biochemical level. The recent …

This Consensus Statement summarizes recommendations for clinical diagnosis, investigation
and management of patients with Silver–Russell syndrome (SRS), an imprinting disorder …

Inherited retinal disease is a common cause of visual impairment and represents a highly
heterogeneous group of conditions. Here, we present findings from a cohort of 722 individuals …

Coats plus is a highly pleiotropic disorder particularly affecting the eye, brain, bone and
gastrointestinal tract. Here, we show that Coats plus results from mutations in CTC1, encoding …

Nicolaides-Baraitser syndrome (NBS) is characterized by sparse hair, distinctive facial
morphology, distal-limb anomalies and intellectual disability. We sequenced the exomes of ten …

Background Cornelia de Lange syndrome (CdLS) is a multisystem disorder with distinctive
facial appearance, intellectual disability and growth failure as prominent features. Most …

Background Silver–Russell syndrome (SRS) is characterised by intrauterine growth restriction,
poor postnatal growth, relative macrocephaly, triangular face and asymmetry. Maternal …

Although ribosomes are ubiquitous and essential for life, recent data indicate that monogenic
causes of ribosomal dysfunction can confer a remarkable degree of specificity in terms of …

Background Genomic imprinting results from the resistance of germline epigenetic marks to
reprogramming in the early embryo for a small number of mammalian genes. Genetic, …