Nicholas Katsanis

Nicholas Katsanis
Jean and George W. Brumley, Jr., M.D. Professor of Developmental Biology
Campus mail: 300 North Duke Street, Box 104775, Durham, NC 27701
Phone: (919) 613-4694

Education and Training

  • Imperial College London (Uk), Ph.D. 1997

Publications

Genetic architecture of reciprocal CNVs

Copy number variants (CNVs) represent a frequent type of lesion in human genetic disorders that typically affects numerous genes simultaneously. This has raised the challenge of understanding which genes within a CNV drive clinical phenotypes.

Genetic architecture of reciprocal CNVs.

Copy number variants (CNVs) represent a frequent type of lesion in human genetic disorders that typically affects numerous genes simultaneously. This has raised the challenge of understanding which genes within a CNV drive clinical phenotypes.

Genetic modifiers and oligogenic inheritance.

Despite remarkable progress in the identification of mutations that drive genetic disorders, progress in understanding the effect of genetic background on the penetrance and expressivity of causal alleles has been modest, in part because of the me

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