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Associate Professor of Clinical Practice
Section on Genetics and Metabolism
Department of Pediatrics
University of Colorado School of Medicine
Children’s Hospital Colorado Anschutz Medical Campus
13123 East 16th Ave
Aurora, CO 80045
https://www.cudoctors.com/Find_A_Doctor/Profile/12916
Dr. Saenz participates in 6 multidisciplinary Rett clinics per year, involving 14 specialties. It has been nationally recognized as a center of excellence for the care of children with the genetic diagnosis of CDKL5 alterations. The clinic also serves as a natural history study site and has 3 current clinical trials specific to Rett syndrome.
She is co-director and developer of the multidisciplinary NeuroGenetics clinic, established in 2011. The clinic occurs 3-4 times per month with each focusing on a sub-subspecialty area: a cortical malformation branch, an intractable epilepsy branch with an epileptologist, and a branch for patients with phenotypes similar to Rett syndrome and Angelman syndrome. The medical director for the Rett Clinic holds an endowed chair of Neurology at Children’s Hospital Colorado.
No conflicts of interest (07/08/2022).
Nau S, McCourt EA, Maloney JA, Van Hove JL, Saenz M, Jung JL.
COL4A1 mutations in two infants with congenital cataracts and porencephaly: an ophthalmologic perspective.
J AAPOS.
2019;23(4):246-248.
PubMed abstract
Cyrus SS, Cohen ASA, Agbahovbe R, Avela K, Yeung KS, Chung BHY, Luk HM, Tkachenko N, Choufani S, Weksberg R, Lopez-Rangel
E, Brown K, Saenz MS, Svihovec S, McCandless SE, Bird LM, Garcia AG, Gambello MJ, McWalter K, Schnur RE, An J, Jones SJM,
Bhalla SK, Pinz H, Braddock SR, Gibson WT.
Rare SUZ12 variants commonly cause an overgrowth phenotype.
Am J Med Genet C Semin Med Genet.
2019;181(4):532-547.
PubMed abstract
Fountain MD, Oleson DS, Rech ME, Segebrecht L, Hunter JV, McCarthy JM, Lupo PJ, Holtgrewe M, Moran R, Rosenfeld JA, Isidor
B, Le Caignec C, Saenz MS, et al.
Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies.
Genet Med.
2019;21(8):1797-1807.
PubMed abstract / Full Text
Wolking S, May P, Mei D, Møller RS, Balestrini S, Helbig KL, Altuzarra CD, Chatron N, Kaiwar C, Stöhr K, Widdess-Walsh P,
Mendelsohn BA, Numis A, Cilio MR, Van Paesschen W, Svendsen LL, Oates S, Hughes E, Goyal S, Brown K, Sifuentes Saenz M, et
al.
Clinical spectrum of STX1B-related epileptic disorders.
Neurology.
2019;92(11):e1238-e1249.
PubMed abstract / Full Text
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, et al.
Natural history and genotype-phenotype correlations in 72 individuals with SATB2-associated syndrome.
Am J Med Genet A.
2018;176(4):925-935.
PubMed abstract