Sara Gracie, MS

Publications

• Ahmad N, Fazeli W, Schließke S, Lesca G, Gokce-Samar Z, Mekbib KY, Jin SC, Burton J, Hoganson G, Petersen A, Gracie S, Granger L, Bartels E, Oppermann H, Kundishora A, Till M, Milleret-Pignot C, Dangerfield S, Viskochil D, Anderson KJ, Palculict TB, Schnur RE, Wentzensen IM, Tiller GE, Kahle KT, Kunz WS, Burkart S, Simons M, Sticht H, Abou Jamra R, Neuser S. De Novo Variants in RAB11B Cause Various Degrees of Global Developmental Delay and Intellectual Disability in Children. Pediatr Neurol. 2023 Nov;148:164-171. PubMed PMID: 37734130
• Gracie S, Deshpande P, Hollos P, De Dios K, Martin DM, Pritchard AB, Scott Schwoerer JA, Behrmann MR, Seaver LH, Brown K, Fernandez RJ, Larson A, Coffey E. Expanding the Molecular and Clinical Phenotype of Patients With De Novo Variants in KIF5C: A Six Patient Case Series. Am J Med Genet A. 2024 Nov 6:e63927. doi: 10.1002/ajmg.a.63927. Epub ahead of print. PMID: 39503049.
• Starosta RT, Larson AA, Meeks NJL, Gracie S, Friederich MW, Gaughan SM, Baker PR 2nd, Knupp KG, Michel CR, Reisdorph R, Hock DH, Stroud DA, Wood T, Van Hove JLK. An integrated multi-omics approach allowed ultra-rapid diagnosis of a deep intronic pathogenic variant in PDHX and precision treatment in a neonate critically ill with lactic acidosis. Mitochondrion. 2024 Oct 15;79:101973. doi: 10.1016/j.mito.2024.101973. Epub ahead of print. PMID: 39413893.
• UMDF Abstract Submission An integrated multi-omics approach allowed ultra-rapid diagnosis of a deep intronic pathogenic variant and effective treatment in a neonate with lactic acidosis. Johan L.K. Van Hove1,2, Rodrigo T. Starosta1, Austin Larson1, Naomi Meeks1,2, Sara Gracie1, Marisa Friederich1,2, Peter Baker1, Kelly G Knupp3, Cole Michel4, Richard Reisdorph4, Daniella H. Hock5, David A. Stroud5, Tim Wood1,2

Practice Locations

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