Background Fetal structural anomalies, which are detected by ultrasonography, have a
range of genetic causes, including chromosomal aneuploidy, copy number variations …

A crystallization screening process is presented that was developed for a small academic
laboratory. Its underlying concept is to combine sparse-matrix screening with systematic …

Crystallization trials at the Division of Structural Biology in Oxford are now almost exclusively
carried out using a high-throughput workflow implemented in the Oxford Protein Production …

In the European Union, a rare disease is defined as rare when it affects less than one in
2000 individuals. Approximately seven thousand rare diseases have been described which …

This paper reviews the developments in high-throughput and nanolitre-scale protein
crystallography technologies within the remit of workpackage 4 of the Structural Proteomics …

Truncating variants in exons 33 and 34 of the SNF2-related CREBBP activator protein
(SRCAP) gene cause the neurodevelopmental disorder (NDD) Floating-Harbor syndrome …

Abstract Musculocontractural Ehlers-Danlos syndrome (mcEDS) is an autosomal recessive
condition characterized by distinct craniofacial features, multisystem congenital …

Accurate classification of variants in cancer susceptibility genes (CSGs) is key for correct
estimation of cancer risk and management of patients. Consistency in the weighting …

Primary defects in motile cilia result in dysfunction of the apparatus responsible for
generating fluid flows. Defects in these mechanisms underlie disorders characterized by …

Advances in technology have led to a massive expansion in the capacity for genomic
analysis, with a commensurate fall in costs. The clinical indications for genomic testing have …