Catherine Keegan, M.D., Ph.D.

Catherine Keegan, M.D., Ph.D.

Professor of Pediatrics
Professor of Human Genetics

8220A MSRB III SPC 5646
1150 W. Medical Center Drive
Ann Arbor, MI 48109


Areas of Interest

The focus of the research in my laboratory is the use of mouse models 1) to understand the mechanisms that lead to birth defects affecting caudal structures in humans, and 2) to understand the mechanisms by which telomere dysfunction causes distinct phenotypes in humans. Prior work in my laboratory has focused on genetically characterizing spontaneous mouse mutants as a platform to understand how disruption of key cellular and developmental processes can lead to structural birth defects and other diseases in humans.

Honors & Awards

  • 1995 Spencer Foundation Award for Excellence 
  • 1995 Nominated for membership in Alpha Omega Alpha Honor Medical Society.
  • 1996 Graduation with Distinction in Research, University of Michigan Medical School.
  • 2004 University of Michigan Medical School nominee for Culpeper Medical Scholarship Program
  • 2004 Basic Science Faculty Award, Department of Pediatrics 15th Annual Research Symposium
  • 2006 Basil O’Connor Starter Scholar Research Award
  • 2007 Amendt-Heller Award for Newborn Research, Department of Pediatrics
  • 2008 UROP Faculty Recognition Award for Outstanding Research Mentorship
  • 2008 American Cancer Society Research Scholar Award
  • 2009 Holden Research Award, Department of Pediatrics
  • 8/09 Member of NIH/NICHD “GO” Grant Study Section
  • 1/10-1/12 Regular member of DNA Mechanisms in Cancer (American Cancer Society) Study Section
  • 2011 Benz Birth Defects Research Award, Department of Pediatrics
  • 11/13 NIH/NHGRI Special Emphasis Review Panel on Undiagnosed Diseases Gene Function Research
  • 2014 Elected to American Society of Clinical Investigation
  • 10/12, 2/15 Ad hoc member of NIH Genetics of Health and Disease (GHD) Study Section
  • 2010-2015 NIH/NICHD Human Development Special Emphasis Panel P01 Review Panels
  • 4/16 NIH/NICHD Special Emphasis Panel on Multidisciplinary Approaches for Developmental Research with Individuals with DSD.
  • 11/16 NIH Special Emphasis Panel: Phenotyping Embryonic Lethal Knockout Mice
  • 11/16 Elected to Society for Pediatric Research
  • 12/16 Elected to American Pediatric Society


  • University of Michigan, 1988, B.S. in Cellular and Molecular Biology
  • University of Michigan, 1996, Ph.D. in Cellular and Molecular Biology
  • University of Michigan, 1996, M.D.
  • Member of University of Michigan MSTP program 1988-1996

Published Articles or Reviews

Vlangos CN, Siuniak A, Robinson D, Chinnaiyan A, Lyons RL, Cavalcoli J, Keegan CE. 2013. Next Generation Sequencing Identifies the Danforth's Short Tail Mouse Mutation as a Retrotransposon Insertion Affecting Ptf1a Expression. PLoS Genetics 9(2): e1003205.

Owens KM, Quinonez SC, Thomas PE, Keegan CE, Lefebvre N, Roulston D, Larsen CA, Stadler HS, Innis JW. 2013. Analysis of de novo HOXA13 polyalanine expansions supports replication slippage without repair in their generation. AJMG, 161(5):1019-27.

Quinonez SC, Park J, Rabah R, Owens K, Yashar BM, Glover TW, Keegan CE. 2013. 9p partial monosomy and disorders of sex development: Review and postulation of a pathogenetic mechanism, AJMG 161(8):1882-96.

Jones M, Osawa G, Regal JA, Weinberg DN, Taggart J, Kocak H, Friedman A, Ferguson DO, *Keegan CE, *Maillard I. 2014. Hematopoietic stem cells are acutely sensitive to Acd shelterin gene inactivation, J. Clin. Invest. 124(1): 353-366. *Co-corresponding authors

**Kocak H, **Ballew BJ, **Bisht K, Eggebeen R, Hicks BD, Suman S, O’Neil A, Giri N, NCI DCEG Cancer Genomics Research Laboratory, NIC DCEG Cancer Sequencing Working Group, Maillard I, Alter BP, Keegan CE, *Nandakumar J, *Savage SA. 2014. Hoyerall-Hreidarsson syndrome caused by germline mutation in the TEL patch of the telomere protein TPP1, Genes Dev., 28(19) 2090-2102. **Co-first authors, *Co-corresponding authors.

Baxter RM, Arboleda VA, Lee H, Barseghyan H, Adam MP, Fechner PY, Bargman R, Keegan C, Travers S, Schelley S, Hudgins L, Mathew RP, Stalker HJ, Zori R, Gordon OK, Ramos-Platt L, Pawlikowska-Haddal A, Eskin A, Nelson SF, Délot E, Vilain E. 2015. Exome Sequencing for the Diagnosis of 46,XY Disorders of Sex Development. J Clin Endocrinol Metab. 100(2): E333-44.

Hipp LE, Mohnach LH, Wei S, Thomas IH, Elhassan ME, Sandberg DE, Quint EH, Keegan CE. 2016. Isodicentric Y mosaicism involving a 46, XX cell line: Implications for management. Am J Med Genet A. 170(1): 233-238.

Ernst ME, Sandberg DE, Keegan C, Quint EH, Lossie AC, Yashar BM. 2016. The Lived Experience of MRKH: Sharing Health Information with Peers. J Pediatr Adolesc Gynecol. 29(2): 154-158.

O'Rawe JA, Wu Y, Dörfel MJ, Rope AF, Au PY, Parboosingh JS, Moon S, Kousi M, Kosma K, Smith CS, Tzetis M, Schuette JL, Hufnagel RB, Prada CE, Martinez F, Orellana C, Crain J, Caro-Llopis A, Oltra S, Monfort S, Jiménez-Barrón LT, Swensen J, Ellingwood S, Smith R, Fang H, Ospina S, Stegmann S, Den Hollander N, Mittelman D, Highnam G, Robison R, Yang E, Faivre L, Roubertie A, Rivière JB, Monaghan KG, Wang K, Davis EE, Katsanis N, Kalscheuer VM, Wang EH, Metcalfe K, Kleefstra T, Innes AM, Kitsiou-Tzeli S, Rosello M, Keegan CE, Lyon GJ. 2015. TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations. Am J Hum Genet. 2015 Dec 3;97(6):922-32.

Srivastava A, Ritesh KC, Tsan YC, Liao R, Su F, Cao X, Hannibal MC, Keegan CE, Chinnaiyan AM, Martin DM, Bielas SL. 2015. De novo Dominant ASXL3 Mutations Alter H2A Deubiquitination and Transcription in Bainbridge-Ropers Syndrome. Hum Mol Genet. 25(3): 597-608.

Dixon MW, Stem MS, Schuette JL, Keegan CE, Besirli CG. 2016. CTNNB1 mutation associated with familial exudative vitreoretinopathy (FEVR) phenotype, Ophthalmic Genetics. Mar 11: 1-3.

Reutter H, Keppler-Noreuil K, Keegan CE, Thiele H, Yamada G, and Ludwig M. 2016. Genetics of Bladder-Exstrophy-Epispadias Complex (BEEC): Systematic elucidation of Mendelian and multifactorial phenotypes, Current Genomics, 17: 4-13.

Jones M, Bisht K, Savage SA, Nandakumar J, Keegan CE, Maillard IM. 2016. The shelterin complex and hematopoiesis, J. Clin. Invest., 126: 1621-1629.

Griffin LB, Farley FA, Antonellis A, Keegan CE. 2016. A novel FGD1 mutation in a family with Aarskog-Scott syndrome and predominant features of congenital joint contractures. Cold Spring Harb. Mol. Case Stud. 2: a000943.

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