MargaritaSaenzMD

Clinical Biochemical Genetics, Clinical Genetics

Associate Professor, Pediatrics, University of Colorado School of Medicine

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Office
13123 E 16th Ave
Aurora, CO 80045
Phone+1 720-777-1234

Fax+1 720-777-7321

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.

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

PubMed

10 citations
Kinetically Stabilizing Mutations in Beta Tubulins Create Isotype-Specific Brain Malformations
Kristen Park, Katelyn J. Hoff, Linnea Wethekam, Nicholas Stence, Margarita Saenz
Frontiers in Cell and Developmental Biology. 2021-11-18
8 citations
Retrospective analysis of a clinical exome sequencing cohort reveals the mutational spectrum and identifies candidate disease–associated loci for BAFopathies
Chun-An Chen, John Lattier, Wenmiao Zhu, Jill A. Rosenfeld, Lei Wang
Genetics in Medicine. 2021-11-01
37 citations
Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature
Dmitrijs Rots, Eric Chater-Diehl, Alexander J. M. Dingemans, Sarah J. Goodman, Michelle T. Siu
American Journal of Human Genetics. 2021-06-03

Journal Articles

Rare SUZ12 variants commonly cause an overgrowth phenotype
Cyrus SS, et. al, J Med Genet C Semin Med Genet, 11/17/2019

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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