MargaritaSaenzMD
Medical Genetics • Aurora, COClinical Biochemical Genetics, Clinical Genetics
Associate Professor, Pediatrics, University of Colorado School of Medicine
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Office
13123 E 16th Ave
Aurora, CO 80045Phone+1 720-777-1234Fax+1 720-777-7321
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 - 2025- American Board of Medical Genetics and Genomics Clinical Biochemical Genetics
- American Board of Medical Genetics and Genomics Clinical Genetics and Genomics
Publications & Presentations
PubMed
- 30 citationsNew insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics.Anaïs Begemann, Heinrich Sticht, Amber Begtrup, Antonio Vitobello, Laurence Faivre
Genetics in Medicine. 2021-03-01 - 141 citationsUSP7 Acts as a Molecular Rheostat to Promote WASH-Dependent Endosomal Protein Recycling and Is Mutated in a Human Neurodevelopmental Disorder.Yi Heng Hao, Michael D. Fountain, Klementina Fon Tacer, Fan Xia, Weimin Bi
Molecular Cell. 2015-09-17 - 98 citationsFunctional convergence of histone methyltransferases EHMT1 and KMT2C involved in intellectual disability and autism spectrum disorder.Tom S. Koemans, Tjitske Kleefstra, Melissa C. Chubak, Max H. Stone, Margot R.F. Reijnders
Plos Genetics. 2017-10-25
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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