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Office
1500 E Medical Center Dr
Ann Arbor, MI 48109Phone+1 734-936-4000
Summary
- Dr. Catherine Keegan, MD, PhD, is a Medical Geneticist situated in Ann Arbor, MI. She has subspecialties in Clinical Genetics and Pediatric Medical Genetics. Her education includes a pediatrics residency at Children's Hospital/Boston Medical Center, a residency in Medical Genetics and Genomics at the University of Michigan Health System, and a medical degree from the University of Michigan Medical School. Currently, she serves as Professor of Pediatrics and Human Genetics at the University of Michigan Medical School. Throughout her career, she has garnered experience in several areas, including inborn errors of metabolism, disorders of sex development, dysmorphology, and birth defects. She serves as Program Director for the Categorical Medical Genetics and Genomics and the Combined Pediatrics-Medical Genetics and Genomics Residency Programs and the Director of the Division of Genetics, Metabolism, and Genomic Medicine in the Department of Pediatrics.
Education & Training
- University of MichiganResidency, Medical Genetics and Genomics, 1999 - 2001
- Boston Children’s Hospital/Boston Medical CenterResidency, Pediatrics, 1996 - 1999
- University of Michigan Medical SchoolClass of 1996
Certifications & Licensure
- MI State Medical License 1999 - 2027
- American Board of Medical Genetics and Genomics Clinical Genetics and Genomics
Publications & Presentations
PubMed
- Refining the phenotype of SINO syndrome: A comprehensive cohort report of 14 novel cases.Morten Alstrup, Fabrizia Cesca, Alicja Krawczun-Rygmaczewska, Celia López-Menéndez, Julia Pose-Utrilla
Genetics in Medicine. 2024-11-01 - 4 citationsBiallelic variants in CSMD1 are implicated in a neurodevelopmental disorder with intellectual disability and variable cortical malformations.Elizabeth A Werren, Emily R Peirent, Henna Jantti, Alba Guxholli, Kinshuk Raj Srivastava
Cell Death & Disease. 2024-05-30 - Intellectual disability syndrome associated with a homozygous founder variant inin Ashkenazi Jews.Rivka Birnbaum, Shlomit Ezer, Nava Shaul Lotan, Avital Eilat, Keren Sternlicht
Journal of Medical Genetics. 2024-02-21
Grant Support
- Mouse Models Of Genomic Instability And Birth DefectsEunice Kennedy Shriver National Institute Of Child Health &Human Development2009–2012
- The ACD Mouse: A Model For Congenital Adrenal HypoplasiaEunice Kennedy Shriver National Institute Of Child Health &Human Development2002–2006
Professional Memberships
- Member
External Links
- Keegan Lab websitehttps://sites.google.com/a/umich.edu/keeganlab/
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