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Publications by Claudia A.L. Ruivenkamp
A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis
American Journal of Human Genetics
Genetics
Equivalent Missense Variant in the FOXP2 and FOXP1 Transcription Factors Causes Distinct Neurodevelopmental Disorders
Human Mutation
Genetics
Copy Number Variants in Short Children Born Small for Gestational Age
Hormone Research in Paediatrics
Child Health
Endocrinology
Perinatology
Pediatrics
Metabolism
Diabetes
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Putting Gene Essentiality Into Context
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Promoter-Proximal Pausing of RNA Polymerase II: Emerging Roles in Metazoans
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Stress and the Epigenetic Landscape: A Link to the Pathobiology of Human Diseases?
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Bayesian Molecular Clock Dating of Species Divergences in the Genomics Era
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