Now showing items 1-5 of 5

    • Atypical Case Of Wolfram Syndrome Revealed Through Targeted Exome Sequencing In A Patient With Suspected Mitochondrial Disease 

      Lieber, Daniel Solomon; Vafai, Scott Bradley; Horton, Laura C; Slate, Nancy G; Liu, Shangtao; Borowsky, Mark L; Calvo, Sarah E; Schmahmann, Jeremy Dan; Mootha, Vamsi Krishna (BioMed Central, 2012)
      Background: Mitochondrial diseases comprise a diverse set of clinical disorders that affect multiple organ systems with varying severity and age of onset. Due to their clinical and genetic heterogeneity, these diseases are ...
    • Expansion of Biological Pathways Based on Evolutionary Inference 

      Li, Yang; Calvo, Sarah E; Gutman, Roee; Liu, Jun; Mootha, Vamsi Krishna (Elsevier BV, 2014)
      The availability of diverse genomes makes it possible to predict gene function based on shared evolutionary history. This approach can be challenging, however, for pathways whose components do not exhibit a shared history ...
    • Genomic Analysis of the Basal Lineage Fungus Rhizopus oryzae Reveals a Whole-Genome Duplication 

      Ma, Li-Jun; Ibrahim, Ashraf S.; Skory, Christopher; Grabherr, Manfred G.; Burger, Gertraud; Butler, Margi; Elias, Marek; Idnurm, Alexander; Lang, B. Franz; Sone, Teruo; Abe, Ayumi; Corrochano, Luis M.; Fu, Jianmin; Hansberg, Wilhelm; Kim, Jung-Mi; Kodira, Chinnappa D.; Koehrsen, Michael J.; Miranda-Saavedra, Diego; O'Leary, Sinead; Ortiz-Castellanos, Lucila; Poulter, Russell; Rodriguez-Romero, Julio; Ruiz-Herrera, José; Shen, Yao-Qing; Zeng, Qiandong; Birren, Bruce W.; Cuomo, Christina A.; Wickes, Brian L.; Calvo, Sarah E; Engels, Reinhard; Galagan, James E; Liu, Bo (Public Library of Science, 2009)
      Rhizopus oryzae is the primary cause of mucormycosis, an emerging, life-threatening infection characterized by rapid angioinvasive growth with an overall mortality rate that exceeds 50%. As a representative of the paraphyletic ...
    • MitoCarta2.0: an updated inventory of mammalian mitochondrial proteins 

      Calvo, Sarah E.; Clauser, Karl R.; Mootha, Vamsi K. (Oxford University Press, 2016)
      Mitochondria are complex organelles that house essential pathways involved in energy metabolism, ion homeostasis, signalling and apoptosis. To understand mitochondrial pathways in health and disease, it is crucial to have ...
    • Next generation sequencing with copy number variant detection expands the phenotypic spectrum of HSD17B4-deficiency 

      Lieber, Daniel S; Hershman, Steven G; Slate, Nancy G; Calvo, Sarah E; Sims, Katherine B; Schmahmann, Jeremy D; Mootha, Vamsi K (BioMed Central, 2014)
      Background: D-bifunctional protein deficiency, caused by recessive mutations in HSD17B4, is a severe, infantile-onset disorder of peroxisomal fatty acid oxidation. Few affected patients survive past two years of age. ...