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Recent Publications

Leveraging curated genetic studies to estimate rare neurodevelopment diseases

The emerging face of FOXG1 Syndrome: a rare, genetically defined neurodevelopmental disorder coming of age in the genomics era. Mueller...

Oct 22, 20241 min read

Uncovering potentially overlooked patients in retinitis pigmentosa

Prevalence Estimates and Genetic Diversity for Autosomal Dominant Retinitis Pigmentosa Due to RHO , c.68C>A (p.P23H) Variant Leenders et...

Oct 22, 20241 min read

RCDP

Genetic epidemiology approach to estimating birth incidence and current disease prevalence for rhizomelic chondrodysplasia punctata...

Oct 22, 20241 min read

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