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Publications by Nancy B. Spinner

Rapid and Accurate Interpretation of Clinical Exomes Using Phenoxome: A Computational Phenotype-Driven Approach

European Journal of Human Genetics

English

Genomic Alterations in Biliary Atresia Suggest Region of Potential Disease Susceptibility in 2q37.3

American Journal of Medical Genetics, Part A

English

Jagged1 (JAG1): Structure, Expression, and Disease Associations

English

CADASIL: Notch Signaling Defect or Protein Accumulation Problem?

Journal of Clinical Investigation

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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