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Ruchi Masand, PhD

TitlePostdoctoral Scholar
SchoolUCSF School of Medicine
DepartmentCardiovascular Research Inst
Address555 Mission Bay Blvd South
San Francisco CA 94158
Phone415-502-2024
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    1. Donti TR, Masand R, Scott DA, Craigen WJ, Graham BH. Expanding the phenotypic spectrum of Succinyl-CoA ligase deficiency through functional validation of a new SUCLG1 variant. Mol Genet Metab. 2016 Sep; 119(1-2):68-74. PMID: 27484306.
      View in: PubMed
    2. Sadat R, Barca E, Masand R, Donti TR, Naini A, De Vivo DC, DiMauro S, Hanchard NA, Graham BH. Functional cellular analyses reveal energy metabolism defect and mitochondrial DNA depletion in a case of mitochondrial aconitase deficiency. Mol Genet Metab. 2016 May; 118(1):28-34. PMID: 26992325.
      View in: PubMed
    3. Ricks CB, Masand R, Fang P, Roney EK, Cheung SW, Scott DA. Delineation of a 1.65 Mb critical region for hemihyperplasia and digital anomalies on Xq25. Am J Med Genet A. 2010 Feb; 152A(2):453-8. PMID: 20101693.
      View in: PubMed
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