1150 West Medical Center Dr.
Ann Arbor, Michigan 48109
Available to mentor
Dr. Keegan is a physician-scientist boarded in Medical Genetics. She currently serves as Director of the Division of Genetics, Metabolism, and Genomic Medicine in the Department of Pediatrics. She has served as the Program Director for the Medical Genetics and Genomics Residency Program since 2017. She is Co-Director of the Michigan Medicine NORD Center of Excellence and Medical Director of the Michigan Medical Genetics Laboratory. As a practicing Pediatric Medical Geneticist, she cares for patients with a wide variety of known or suspected genetic disorders as part of her clinical responsibilities. She has significant clinical expertise in genetic evaluation of patients with Differences of Sex Development (DSDs). She also participates in a multidisciplinary clinic for patients with Turner syndrome.
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Research FellowshipUniversity of Michigan Medical School, Ann Arbor, 2002
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Medical Genetics ResidencyUniversity of Michigan Medical School, Ann Arbor, 2001
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Pediatrics ResidencyBoston Children's Hospital, Boston, 1999
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Center MemberRogel Cancer Center
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Center MemberCenter for Cell Plasticity and Organ Design
Dr. Keegan's current research interests include diagnosis and characterization of rare human genetic diseases. Disorders of particular interest include KDM5C-related X-linked intellectual disability, differences of sex development (DSD), and structural birth defects affecting the lower part of the body. She is also interested in models for implementation of novel therapeutics for rare diseases in the clinical setting, including gene therapy.
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Alstrup M, Cesca F, Krawczun-Rygmaczewska A, López-Menéndez C, Pose-Utrilla J, Castberg FC, Bjerager MO, Finnila C, Kruer MC, Bakhtiari S, Padilla-Lopez S, Manwaring L, Keren B, Afenjar A, Galatolo D, Scalise R, Santorelli FM, Shillington A, Vezain M, Martinovic J, Stevens C, Gowda VK, Srinivasan VM, Thiffault I, Pastinen T, Baranano K, Lee A, Granadillo J, Glassford MR, Keegan CE, Matthews N, Saugier-Veber P, Iglesias T, Østergaard E. Genet Med, 2024 Nov; 26 (11): 101219Journal ArticleRefining the phenotype of SINO syndrome: A comprehensive cohort report of 14 novel cases.
DOI:10.1016/j.gim.2024.101219 PMID: 39033379 -
Werren EA, Peirent ER, Jantti H, Guxholli A, Srivastava KR, Orenstein N, Narayanan V, Wiszniewski W, Dawidziuk M, Gawlinski P, Umair M, Khan A, Khan SN, Geneviève D, Lehalle D, van Gassen KLI, Giltay JC, Oegema R, van Jaarsveld RH, Rafiullah R, Rappold GA, Rabin R, Pappas JG, Wheeler MM, Bamshad MJ, Tsan Y-C, Johnson MB, Keegan CE, Srivastava A, Bielas SL. Cell Death Dis, 2024 May 30; 15 (5): 379Journal ArticleBiallelic variants in CSMD1 are implicated in a neurodevelopmental disorder with intellectual disability and variable cortical malformations.
DOI:10.1038/s41419-024-06768-6 PMID: 38816421 -
Birnbaum R, Ezer S, Lotan NS, Eilat A, Sternlicht K, Benyamini L, Reish O, Falik-Zaccai T, Ben-Gad G, Rod R, Segel R, Kim K, Burton B, Keegan CE, Wagner M, Henderson LB, Mor N, Barel O, Hirsch Y, Meiner V, Elpeleg O, Harel T, Mor-Shakad H. J Med Genet, 2024 Feb 21; 61 (3): 289 - 293.Journal ArticleIntellectual disability syndrome associated with a homozygous founder variant in SGSM3 in Ashkenazi Jews.
DOI:10.1136/jmg-2023-109504 PMID: 37833060 -
Groups D-TEGW, Finlayson C, Keegan C, Mohnach L, Speiser P, Mathew D, Rutter M, Schafer-Kalkhoff T, Diaz-Thomas A, Whitehead J. Journal of the Endocrine Society, 2022 Nov 1; 6 (Supplement_1): a617 - a618.Proceeding / Abstract / PosterOR18-3 Case Series of 16 Patients With 17β-Hydroxysteroid Dehydrogenase Type 3 Deficiency at Five Children's Hospitals in the United States
DOI:10.1210/jendso/bvac150.1280 -
Keegan C, Mohnach L, Fechner PY. 2022 Aug 18;BookNonsyndromic Disorders of Testicular Development Overview
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Sack BS, Speck KE, Hryhorczuk AL, Sandberg DE, Kraft KH, Ralls MW, Keegan CE, Quint EH, Dendrinos ML. J Clin Med, 2022 Jul 28; 11 (15):Journal ArticleAn Interdisciplinary Approach to Müllerian Outflow Tract Obstruction Associated with Cloacal Malformation and Cloacal Exstrophy.
DOI:10.3390/jcm11154408 PMID: 35956025 -
McGrath BT, Tsan YC, Salvi S, Ghali N, Martin DM, Hannibal M, Keegan CE, Helms A, Srivastava A, Bielas SL. BioRxiv, 2022 Jul 16;Journal ArticleAberrant extracellular matrix and cardiac development in models lacking the PR-DUB component ASXL3
DOI:10.1101/2022.07.14.500124 -
McGrath BT, Tsan YC, Salvi S, Ghali N, Martin DM, Hannibal M, Keegan CE, Helms A, Srivastava A, Bielas S. 2022 Jul 16;Journal ArticleAberrant extracellular matrix and cardiac development in models lacking the PR-DUB component ASXL3
DOI:10.1101/2022.07.14.500124
