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Publications by Panagiotis I. Sergouniotis

Clinical and Molecular Characterization of Enhanced S-Cone Syndrome in Children

JAMA Ophthalmology

English

Recessive Mutations inTSPAN12Cause Retinal Dysplasia and Severe Familial Exudative Vitreoretinopathy (FEVR)

Investigative Ophthalmology and Visual Science

Molecular Neuroscience

Sensory Systems

English

An Ontological Foundation for Ocular Phenotypes and Rare Eye Diseases

Orphanet Journal of Rare Diseases

English

Variability in Gene Expression Is Associated With Incomplete Penetrance in Inherited Eye Disorders

English

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Sequencing Studies in Human Genetics: Design and Interpretation

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Evolution of Genetic and Genomic Features Unique to the Human Lineage

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Recent Human Adaptation: Genomic Approaches, Interpretation and Insights

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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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