Concepedia

Catherine E. Keegan

CE

42

Publications

3.1K

Citations

28

H-Index

1994

Active since

Affiliations

University of Michigan(Current)

University of California, Los Angeles

University of Washington

Seattle Children's Hospital

Michigan Medicine

Catherine E. Keegan is an author at University of Michigan specializing in medicine, genetics, and developmental biology.

ORCID

Top concepts

Publications per year

1994–2024

42

Publications

42

Connexin 43 (GJA1) Mutations Cause the Pleiotropic Phenotype of Oculodentodigital Dysplasia

William A. Paznekas, Simeon A. Boyadjiev, Robert E. Shapiro et al. · The American Journal of Human Genetics · 2003 · 625 citations · Full text

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Exome Sequencing for the Diagnosis of 46,XY Disorders of Sex Development

Ruth M. Baxter, Valerie A. Arboleda, Hane Lee et al. · The Journal of Clinical Endocrinology & Metabolism · 2014 · 230 citations · Full text

Microduplications of 22q11.2 are frequently inherited and are associated with variable phenotypes

Zhishuo Ou, Jonathan S. Berg, Hagith Yonath et al. · Genetics in Medicine · 2008 · 220 citations · Full text

Telomere protection by mammalian Pot1 requires interaction with Tpp1

Dirk Hockemeyer, Wilhelm Palm, Tobias Else et al. · Nature Structural & Molecular Biology · 2007 · 197 citations

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PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution

Ghayda Mirzaa, Andrew E. Timms, Valerio Conti et al. · JCI Insight · 2016 · 182 citations · Full text

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