Margarita Saenz, MD
Associate Professor of Clinical Practice, Pediatrics-Clinical Genetics and Metabolism

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Medical School:
  • MD, University of Colorado Denver Health Sciences Center (2005)
Undergraduate School:
  • BS, Colorado State University - Pueblo (CO) (2000)
Internship:
  • University of Arizona Program (2006)
Fellowships:
  • University of Colorado (University Hospital) Program, Medical Genetics and Genomics (2009)
Languages: English
Department: Pediatrics-Clinical Genetics and Metabolism

Publications

  • Zarate YA, Smith-Hicks CL, Greene C, Abbott MA, Siu VM, Calhoun ARUL, Pandya A, Li C, Sellars EA, Kaylor J, Bosanko K, Kalsner L, Basinger A, Slavotinek AM, Perry H, Saenz M, Szybowska M, Wilson LC, Kumar A, Brain C, Balasubramanian M, Dubbs H, Ortiz-Gonzalez XR, Zackai E, Stein Q, Powell CM, Schrier Vergano S, Britt A, Sun A, Smith W, Bebin EM, Picker J, Kirby A, Pinz H, Bombei H, Mahida S, Cohen JS, Fatemi A, Vernon HJ, McClellan R, Fleming LR, Knyszek B, Steinraths M, Velasco Gonzalez C, Beck AE, Golden-Grant KL, Egense A, Parikh A, Raimondi C, Angle B, Allen W, Schott S, Algrabli A, Robin NH, Ray JW, Everman DB, Gambello MJ, Chung WK. Natural history and genotype-phenotype correlations in 72 individuals with SATB2-associated syndrome. Am J Med Genet A. 2018 Apr;176(4):925-935. PubMed PMID: 29436146
  • Chong JX, Yu JH, Lorentzen P, Park KM, Jamal SM, Tabor HK, Rauch A, Saenz MS, Boltshauser E, Patterson KE, Nickerson DA, Bamshad MJ. Gene discovery for Mendelian conditions via social networking: de novo variants in KDM1A cause developmental delay and distinctive facial features. Genet Med. 2015 Dec 10. [Epub ahead of print] PubMed PMID: 26656649
  • Hao YH, Fountain MD Jr, Fon Tacer K, Xia F, Bi W, Kang SH, Patel A, Rosenfeld JA, Le Caignec C, Isidor B, Krantz ID, Noon SE, Pfotenhauer JP, Morgan TM, Moran R, Pedersen RC, Saenz MS, Schaaf CP, Potts PR. USP7 Acts as a Molecular Rheostat to Promote WASH-Dependent Endosomal Protein Recycling and Is Mutated in a Human Neurodevelopmental Disorder. Mol Cell. 2015 Sep 17;59(6):956-69. PubMed PMID: 26365382

Professional Memberships

  • Society for Inherited Metabolic Diseases, Member
  • American Academy of Pediatrics (AAP), Member
  • American Academy of Family Physicians, Member

Practice Locations

Children's Hospital Colorado
13123 East 16th Ave
Aurora, CO 80045
720-777-1234

Children's Hospital Colorado Parker Campus
9395 Crown Crest Blvd
Parker, CO 80138
720-777-1350

Care by Children's Hospital Colorado
704 Fortino Blvd
Suite A
Pueblo, CO 81008
719-305-8300

Hospital Affiliation
  • Children's Hospital Colorado

Specialty Information

Specialties
  • Clinical Genetics and Genomics (MD), Board Certification (2009)
  • Clinical Biochemical Genetics, Board Certification (2011, 2011)
Conditions & Treatments
  • Genetic Conditions and Testing

General Information

Medical Schools:
  • MD, University of Colorado Denver Health Sciences Center (2005)
Undergraduate Schools:
  • BS, Colorado State University - Pueblo (CO) (2000)
Internships:
  • University of Arizona Program (2006)
Fellowships:
  • University of Colorado (University Hospital) Program, Medical Genetics and Genomics (2009)
Languages: English
Department: Pediatrics-Clinical Genetics and Metabolism
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