Rare disease
![Congenica](https://www.congenica.com/hubfs/Cropped%20Congenica%20Logo%20Without%20Tagline%20RGB.png)
Assessing pathogenicity of in-frame CACNA1F indel variants using structural modelling
PGx
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Personalised psychotropic prescribing in adults with intellectual disabilities
Rare disease
![Congenica](https://www.congenica.com/hubfs/Cropped%20Congenica%20Logo%20Without%20Tagline%20RGB.png)
100,000K Genomes Pilot on Rare-Disease Diagnosis in Health Care — Preliminary Report
Rare disease
![Congenica](https://www.congenica.com/hubfs/Cropped%20Congenica%20Logo%20Without%20Tagline%20RGB.png)
Autosomal recessive SLC30A9 variants in a Proband with a Cerebro-Renal Syndrome
Rare disease
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Early prenatal presentation of the cartilage-hair hypoplasia/anauxetic dysplasia spectrum of disorders mimicking recurrent thanatophoric dysplasia
Rare disease
![Congenica](https://www.congenica.com/hubfs/Cropped%20Congenica%20Logo%20Without%20Tagline%20RGB.png)
Improving the clinical interpretation of missense variants in X linked genes using structural analysis - Journal of Medical Genetics Journal of Medical Genetics
Rare disease
![Congenica](https://www.congenica.com/hubfs/Cropped%20Congenica%20Logo%20Without%20Tagline%20RGB.png)
A report on the impact of rapid prenatal exome sequencing on the clinical management of 52 ongoing pregnancies; a retrospective review
Rare disease
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Case report: targeted whole exome sequencing enables the first prenatal diagnosis of the lethal skeletal dysplasia Osteocraniostenosis
Rare disease
![Congenica](https://www.congenica.com/hubfs/Cropped%20Congenica%20Logo%20Without%20Tagline%20RGB.png)
Diagnosis of fetal abnormalities using exome sequencing: translating research into practice
Rare disease
![Congenica](https://www.congenica.com/hubfs/Cropped%20Congenica%20Logo%20Without%20Tagline%20RGB.png)