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Danielle Demarzo

TitleProf,Clin Asst
InstitutionUniversity of Oklahoma Health Sciences Center
DepartmentDept of Pediatrics
AddressOUCPB 12910
1200 Childrens Ave
Oklahoma City OK 73104
Phone405/271-8685 ext 48602
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    Collapse Bibliographic 
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    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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    PMC Citations indicate the number of times the publication was cited by articles in PubMed Central, and the Altmetric score represents citations in news articles and social media. (Note that publications are often cited in additional ways that are not shown here.) Fields are based on how the National Library of Medicine (NLM) classifies the publication's journal and might not represent the specific topic of the publication. Translation tags are based on the publication type and the MeSH terms NLM assigns to the publication. Some publications (especially newer ones and publications not in PubMed) might not yet be assigned Field or Translation tags.) Click a Field or Translation tag to filter the publications.
    1. Lin HT, Enchautegui-Colon Y, Huang YR, Zimmerman C, DeMarzo D, Tsai AC. Novel compound heterozygote variants: c.4193_4206delinsG (p.Leu1398Argfs*25), c.793C?>?A (p.Pro265Thr), in the CPS1 gene (NM_001875.4) causing late onset carbamoyl phosphate synthetase 1 deficiency-Lessons learned. Mol Genet Metab Rep. 2022 Dec; 33:100942. PMID: 36466970; PMCID: PMC9709223.
      Citations: 2     
    2. Walker A, Wang X, Kim YM, Lu X, Taylor A, Demarzo D, Li S, Pang H. Molecular cytogenetic characterization of partial trisomy of the long arm of chromosome 11 in a patient with multiple congenital anomalies. Mol Cytogenet. 2022 Apr 19; 15(1):17. PMID: 35440058.
    3. Tsai AC, Lin HT, Chou M, Bolen J, Zimmerman C, DeMarzo D, Enchautegui-Colon Y. Compound heterozygote variants: c.848A > G; p.Glu283Gly and c.890C > T; p.Ala297Val, of Isovaleric acid-CoA dehydrogenase (IVD) gene causing severe Isovaleric acidemia with hyperammonemia. Mol Genet Metab Rep. 2022 Jun; 31:100859. PMID: 35782626.
    4. Muir AM, Gardner JF, van Jaarsveld RH, de Lange IM, van der Smagt JJ, Wilson GN, Dubbs H, Goldberg EM, Zitano L, Bupp C, Martinez J, Srour M, Accogli A, Alhakeem A, Meltzer M, Gropman A, Brewer C, Caswell RC, Montgomery T, McKenna C, McKee S, Powell C, Vasudevan PC, Brady AF, Joss S, Tysoe C, Noh G, Tarnopolsky M, Brady L, Zafar M, Schrier Vergano SA, Murray B, Sawyer L, Hainline BE, Sapp K, DeMarzo D, Huismann DJ, Wentzensen IM, Schnur RE, Monaghan KG, Juusola J, Rhodes L, Dobyns WB, Lecoquierre F, Goldenberg A, Polster T, Axer-Schaefer S, Platzer K, Klöckner C, Hoffman TL, MacArthur DG, O'Leary MC, VanNoy GE, England E, Varghese VC, Mefford HC. Variants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures, and hypotonia. Genet Med. 2021 05; 23(5):881-887. PMID: 33473207.
      Citations: 4     Fields:    Translation:Humans
    5. Muir AM, Cohen JL, Sheppard SE, Guttipatti P, Lo TY, Weed N, Doherty D, DeMarzo D, Fagerberg CR, Kjærsgaard L, Larsen MJ, Rump P, Löhner K, Hirsch Y, Zeevi DA, Zackai EH, Bhoj E, Song Y, Mefford HC. Bi-allelic Loss-of-Function Variants in NUP188 Cause a Recognizable Syndrome Characterized by Neurologic, Ocular, and Cardiac Abnormalities. Am J Hum Genet. 2020 05 07; 106(5):623-631. PMID: 32275884.
      Citations: 11     Fields:    Translation:HumansAnimalsCells
    6. Yigit G, Saida K, DeMarzo D, Miyake N, Fujita A, Yang Tan T, White SM, Wadley A, Toliat MR, Motameny S, Franitza M, Stutterd CA, Chong PF, Kira R, Sengoku T, Ogata K, Guillen Sacoto MJ, Fresen C, Beck BB, Nürnberg P, Dieterich C, Wollnik B, Matsumoto N, Altmüller J. The recurrent postzygotic pathogenic variant p.Glu47Lys in RHOA causes a novel recognizable neuroectodermal phenotype. Hum Mutat. 2020 03; 41(3):591-599. PMID: 31821646.
      Citations: 4     Fields:    Translation:HumansCells
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