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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
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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
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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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