Associate Professor of Pediatrics and Human Genetics

Medical Genetics

Dr. Catherine E. Keegan, MD

Catherine Keegan works in the field of Medical Genetics. She graduated from University of Michigan Medical School. Catherine Keegan is a published physician. She published 21 publications, including: 'CTNNB1 mutation associated with familial exudative vitreoretinopathy (FEVR) phenotype.'

Publications

Exome sequencing for the diagnosis of 46,XY disorders of sex development.
9p partial monosomy and disorders of sex development: Review and postulation of a pathogenetic mechanism.
Analysis of De Novo HOXA13 Polyalanine Expansions Supports Replication Slippage Without Repair in Their Generation.
Next-Generation Sequencing Identifies the Danforth's Short Tail Mouse Mutation as a Retrotransposon Insertion Affecting Ptf1a Expression.
Spontaneous intracranial hemorrhage and multiple intracranial aneurysms in a patient with Roberts/SC phocomelia syndrome.
Additive effect of TAp63 deficiency on the adrenocortical dysplasia (acd) phenotype.
Aged PROP1 Deficient Dwarf Mice Maintain ACTH Production.
Comprehensive genetic analysis of OEIS complex reveals no evidence for a recurrent microdeletion or duplication.
Telomere protection by TPP1 is mediated by POT1a and POT1b.
Caudal regression in adrenocortical dysplasia (acd) mice is caused by telomere dysfunction with subsequent p53-dependent apoptosis.
The role of molecular testing and enzyme analysis in the management of hypomorphic citrullinemia.
Microduplications of 22q11.2 are frequently inherited and are associated with variable phenotypes.
Telomere protection by mammalian Pot1 requires interaction with Tpp1.
Craniofacial dyssynostosis in two boys with apparently normal cognitive development.
IMAGe association and congenital adrenal hypoplasia: no disease-causing mutations found in the ACD gene.
Microcephaly, jejunal atresia, aberrant right bronchus, ocular anomalies, and XY sex reversal.
Mouse knockout solves endocrine puzzle and promotes new pituitary lineage model.
Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia.
Recent insights into organogenesis of the adrenal cortex.
CTNNB1 mutation associated with familial exudative vitreoretinopathy (FEVR) phenotype.

Schools

University of Mi Med Sch

Doctors Specialties

Clinical Genetics
Pediatrics
Medical Genetics

Accepted Insurances

Education

University of Michigan Hospitals and Health Centers
Boston Children's Hospital
University of Michigan Medical School

Hospital

University of Michigan Hospitals and Health Centers

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Medicare Facts

National Provider Identifier [NPI]	1861656977
Last Name Of The Provider	KEEGAN
First Name Of The Provider	CATHERINE
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