Margarita Saenz MD
Clinical Biochemical Genetics, Clinical Genetics
Associate Professor, Pediatrics, University of Colorado School of Medicine
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13123 E 16th AveAurora, CO 80045
Phone+1 720-777-1234
Fax+1 720-777-7321
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Summary
- Dr. Margarita Saenz is a medical geneticist in Aurora, CO and is affiliated with multiple hospitals in the area, including UCHealth Memorial Hospital and Children's Hospital Colorado. She received her medical degree from University of Colorado School of Medicine and has been in practice 12 years. She specializes in clinical biochemical genetics and clinical genetics.
Education & Training
University of ColoradoResidency, Medical Genetics and Genomics, 2007 - 2010
Barrow Neurological Institute at St Joseph's Hospital and Medical CenterResidency, Pediatrics, 2005 - 2007- University of Colorado School of Medicine Anschutz Medical CampusClass of 2005
Certifications & Licensure
CO State Medical License 2010 - 2027
American Board of Medical Genetics and Genomics Clinical Biochemical Genetics- American Board of Medical Genetics and Genomics Clinical Genetics and Genomics
Publications & Presentations
PubMed
- Bi-allelic MED16 variants cause a MEDopathy with intellectual disability, motor delay, and craniofacial, cardiac, and limb malformations.Charlotte Guillouet, Valeria Agostini, Geneviève Baujat, Dario Cocciadiferro, Tommaso Pippucci
American Journal of Human Genetics. 2025-04-03 - Chromosome 8p Syndromes Clinical Presentation and Management Guidelines.Kourtney Santucci, Kristina E Malik, Katie Angione, Dana Bennink, Andrea Gerk
Clinical Genetics. 2025-02-01 - 1 citationsPOLR3B is associated with a developmental and epileptic encephalopathy with myoclonic-atonic seizures and ataxia.Joseph D Symonds, Kristen L Park, Cyril Mignot, Stewart Macleod, Martin Armstrong
Epilepsia. 2024-11-01
Journal Articles
- Rare SUZ12 variants commonly cause an overgrowth phenotypeCyrus SS, et. al, J Med Genet C Semin Med Genet, 11/17/2019
Press Mentions
New Insights into the Clinical and Molecular Spectrum of the Novel CYFIP2-Related Neurodevelopmental Disorder and Impairment of the WRC-Mediated Actin DynamicsNovember 5th, 2020
Teen with Stiff Skin Syndrome ‘Turning to Stone,’ Mom Pleas for HelpAugust 26th, 2020
Bedridden Teen Suffers from Rare Disease Turning Him into Stone: 'It's Only Getting Worse'August 16th, 2019- Join now to see all
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