Rare disease
Assessing pathogenicity of in-frame CACNA1F indel variants using structural modelling
PGx
Personalised psychotropic prescribing in adults with intellectual disabilities
Rare disease
100,000K Genomes Pilot on Rare-Disease Diagnosis in Health Care — Preliminary Report
Rare disease
Autosomal recessive SLC30A9 variants in a Proband with a Cerebro-Renal Syndrome
Rare disease
Early prenatal presentation of the cartilage-hair hypoplasia/anauxetic dysplasia spectrum of disorders mimicking recurrent thanatophoric dysplasia
Rare disease
Improving the clinical interpretation of missense variants in X linked genes using structural analysis - Journal of Medical Genetics Journal of Medical Genetics
Rare disease
A report on the impact of rapid prenatal exome sequencing on the clinical management of 52 ongoing pregnancies; a retrospective review
Rare disease
Case report: targeted whole exome sequencing enables the first prenatal diagnosis of the lethal skeletal dysplasia Osteocraniostenosis
Rare disease
Diagnosis of fetal abnormalities using exome sequencing: translating research into practice
Rare disease