DanielleDemarzoMD

PubMed

• 2 citations
  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 pho...
  Hsin-Ti Lin, Yazmin Enchautegui-Colon, Yu-Ren Huang, Chelsea Zimmerman, Danielle DeMarzo, Anne Chun-Hui Tsai> ;Molecular Genetics and Metabolism Reports. 2022 Dec 1
• Compound heterozygote variants: c.848A > G; p.Glu283Gly and c.890C > T; p.Ala297Val, of Isovaleric acid-CoA dehydrogenasegene causing severe Isovaleric acidemia with h...
  Anne Chun-Hui Tsai, Hsin-Ti Lin, Maxwell Chou, Jessica Bolen, Chelsea Zimmerman, Danielle DeMarzo, Yazmin Enchautegui-Colon> ;Molecular Genetics and Metabolism Reports. 2022 Jun 1
• 1 citations
  Molecular cytogenetic characterization of partial trisomy of the long arm of chromosome 11 in a patient with multiple congenital anomalies.
  Austin Walker, Xianfu Wang, Young Mi Kim, Xianglan Lu, Ashley Taylor, Danielle Demarzo, Shibo Li, Hui Pang> ;Molecular Cytogenetics. 2022 Apr 19
• 10 citations
  Variants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures, and hypotonia.
  Alison M. Muir, Jennifer F. Gardner, Richard H. van Jaarsveld, Iris M de Lange, Jasper J. van der Smagt, Golder N. Wilson, Holly Dubbs, Ethan M. Goldberg, Lia Zitano, ...> ;Genetics in Medicine. 2021 Jan 20
• 15 citations
  Bi-allelic Loss-of-Function Variants in NUP188 Cause a Recognizable Syndrome Characterized by Neurologic, Ocular, and Cardiac Abnormalities.
  Alison M. Muir, Jennifer L. Cohen, Sarah E Sheppard, Pavithran Guttipatti, Tsz Y. Lo, Natalie Weed, Dan Doherty, Danielle DeMarzo, Christina Fagerberg, Lars Kjærsgaard...> ;American Journal of Human Genetics. 2020 May 7
• 6 citations
  The recurrent postzygotic pathogenic variant p.Glu47Lys in RHOA causes a novel recognizable neuroectodermal phenotype.
  Gökhan Yigit, Ken Saida, Danielle DeMarzo, Noriko Miyake, Atsushi Fujita, Tiong Yang Tan, Susan M. White, Alexandrea Wadley, Mohammad R. Toliat, Susanne Motameny, Mare...> ;Human Mutation. 2020 Mar 1
• Join now to see all