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Office
13123 E 16th Ave
Aurora, CO 80045Phone+1 720-777-1234- Is this information wrong?
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
- 8 citationsKinetically Stabilizing Mutations in Beta Tubulins Create Isotype-Specific Brain MalformationsKristen Park, Katelyn J. Hoff, Linnea Wethekam, Nicholas Stence, Margarita Saenz, Jeffrey K. Moore> ;Frontiers in Cell and Developmental Biology. 2021 Nov 18
- 8 citationsRetrospective analysis of a clinical exome sequencing cohort reveals the mutational spectrum and identifies candidate disease–associated loci for BAFopathiesChun-An Chen, John Lattier, Wenmiao Zhu, Jill A. Rosenfeld, Lei Wang, Tiana M. Scott, Haowei Du, Vipulkumar Patel, Anh Dang, Pilar L. Magoulas, Haley Streff, Jessica S...> ;Genetics in Medicine. 2021 Nov 1
- 29 citationsTruncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signatureDmitrijs Rots, Eric Chater-Diehl, Alexander J. M. Dingemans, Sarah J. Goodman, Michelle T. Siu, Cheryl Cytrynbaum, Sanaa Choufani, Ny Hoang, Susan Walker, Zain Awamleh...> ;American Journal of Human Genetics. 2021 Jun 3
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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
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Hospital Affiliations
- UCHealth Memorial HospitalColorado Springs, Colorado
- Children's Hospital ColoradoAurora, Colorado
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