Publications by authors named "Rachel J Hobson"
Genetically determined disorders are highly heterogenous in clinical presentation and underlying molecular mechanism. The evidence underpinning these conditions in the peer-reviewed literature requires robust critical evaluation for diagnostic use. Here, we present a structured curation process for Gene2Phenotype (G2P).
View Article and Find Full Text PDFBackground: Pediatric disorders include a range of highly penetrant, genetically heterogeneous conditions amenable to genomewide diagnostic approaches. Finding a molecular diagnosis is challenging but can have profound lifelong benefits.
Methods: We conducted a large-scale sequencing study involving more than 13,500 families with probands with severe, probably monogenic, difficult-to-diagnose developmental disorders from 24 regional genetics services in the United Kingdom and Ireland.
Background: Little is known about patients' opinions upon the development of non-medical prescribing (NMP).
Objective: To explore the opinions of patients on the development of NMP.
Methods: In-depth interviews using qualitative methodology (Interpretative Phenomological Analysis).
Unlabelled: OBJECTIVE (OF THE STUDY): To provide data on the views of chief pharmacists (CPs) and primary care trust pharmacists (PCTPs) on the risks and concerns surrounding supplementary prescribing.
Setting: Secondary and primary care within England.
Method: Postal questionnaire surveys of chief pharmacists and primary care trust pharmacists.
Purpose: The implementation of supplementary prescribing by pharmacists within primary care trusts (PCTs) and secondary care trusts (SCTs) in England was studied.
Methods: A survey was developed and sent to pharmacists in PCTs and SCTs in England who would oversee the implementation of supplementary prescribing by pharmacists.
Results: The response rate was 68% for both surveys.