Now showing items 1-9 of 9

    • Discovery of new glomerular disease-relevant genes by translational profiling of podocytes in vivo 

      Grgic, Ivica; Hofmeister, Andreas F.; Genovese, Giulio; Bernhardy, Andrea J.; Sun, Hua; Maarouf, Omar H.; Bijol, Vanesa; Pollak, Martin R.; Humphreys, Benjamin D. (2014)
      Identifying new biomarkers and therapeutic targets for podocytopathies such as focal segmental glomerulosclerosis (FSGS) requires a detailed analysis of transcriptional changes in podocytes over the course of disease. Here ...
    • Exome sequencing and in vitro studies identified podocalyxin as a candidate gene for focal and segmental glomerulosclerosis 

      Barua, Moumita; Shieh, Eric; Schlondorff, Johannes; Genovese, Giulio; Kaplan, Bernard S; Pollak, Martin R (2013)
      Our understanding of focal and segmental glomerulosclerosis (FSGS) has advanced significantly from the studies of rare, monogenic forms of the disease. These studies have demonstrated the critical roles of multiple aspects ...
    • Frequency of Rare Allelic Variation in Candidate Genes among Individuals with Low and High Urinary Calcium Excretion 

      Toka, Hakan R.; Genovese, Giulio; Mount, David B.; Pollak, Martin R.; Curhan, Gary C. (Public Library of Science, 2013)
      Our study investigated the association of rare allelic variants with extremes of 24-hour urinary calcium excretion because higher urinary calcium excretion is a dominant risk factor for calcium-based kidney stone formation. ...
    • Human pluripotent stem cells recurrently acquire and expand dominant negative P53 mutations 

      Merkle, Florian Tobias; Ghosh, Sulagna; Kamitaki, Nolan; Mitchell, Jana Marie; Avior, Yishai; Mello, Curtis Jay; Kashin, Seva; Mekhoubad, Shila; Ilic, Dusko; Sweetnam, Maura Charlton; Saphier Belfer, Genevieve C; Handsaker, Robert E; Genovese, Giulio; Bar, Shiran; Benvenisty, Nissim; McCarroll, Steven A.; Eggan, Kevin Carl (Springer Nature, 2017)
      Background: Depressive disorders are the second-leading cause of global disability, and an area of increasing focus in international health efforts. We describe a community health worker (CHW) program rolled out in a ...
    • Improved IBD Detection Using Incomplete Haplotype Information 

      Genovese, Giulio; Leibon, Gregory; Pollak, Martin Russell; Rockmore, Daniel N (BioMed Central, 2010)
      Background: The availability of high density genetic maps and genotyping platforms has transformed human genetic studies. The use of these platforms has enabled population-based genome-wide association studies. However, ...
    • Informed Conditioning on Clinical Covariates Increases Power in Case-Control Association Studies 

      Zaitlen, Noah; Lindström, Sara; Pasaniuc, Bogdan; Cornelis, Marilyn; Genovese, Giulio; Pollack, Samuela; Barton, Anne; Bickeböller, Heike; Bowden, Donald W.; Eyre, Steve; Freedman, Barry I.; Friedman, David J.; Field, John K.; Groop, Leif; Haugen, Aage; Heinrich, Joachim; Henderson, Brian E.; Hicks, Pamela J.; Hocking, Lynne J.; Kolonel, Laurence N.; Landi, Maria Teresa; Langefeld, Carl D.; Le Marchand, Loic; Meister, Michael; Morgan, Ann W.; Raji, Olaide Y.; Risch, Angela; Rosenberger, Albert; Scherf, David; Steer, Sophia; Walshaw, Martin; Waters, Kevin M.; Wilson, Anthony G.; Wordsworth, Paul; Zienolddiny, Shanbeh; Tchetgen, Eric Tchetgen; Haiman, Christopher; Hunter, David J.; Plenge, Robert M.; Worthington, Jane; Christiani, David C.; Schaumberg, Debra Ann; Chasman, Daniel Ian; Altshuler, David Matthew; Voight, Benjamin; Kraft, Peter Elias; Patterson, Nick; Price, Alkes (Public Library of Science, 2012)
      Genetic case-control association studies often include data on clinical covariates, such as body mass index (BMI), smoking status, or age, that may modify the underlying genetic risk of case or control samples. For example, ...
    • Large multi-allelic copy number variations in humans 

      Handsaker, Robert E.; Van Doren, Vanessa; Berman, Jennifer R.; Genovese, Giulio; Kashin, Seva; Boettger, Linda M.; McCarroll, Steven A. (2015)
      Thousands of genome segments appear to be present in widely varying copy number in different human genomes. We developed ways to use increasingly abundant whole genome sequence data to identify the copy numbers, alleles ...
    • Schizophrenia risk from complex variation of complement component 4 

      Sekar, Aswin; Bialas, Allison R.; de Rivera, Heather; Davis, Avery; Hammond, Timothy R.; Kamitaki, Nolan; Tooley, Katherine; Presumey, Jessy; Baum, Matthew; Van Doren, Vanessa; Genovese, Giulio; Rose, Samuel A.; Handsaker, Robert E.; Daly, Mark J.; Carroll, Michael C.; Stevens, Beth; McCarroll, Steven A. (2016)
      Schizophrenia is a heritable brain illness with unknown pathogenic mechanisms. Schizophrenia’s strongest genetic association at a population level involves variation in the Major Histocompatibility Complex (MHC) locus, but ...
    • Using population admixture to help complete maps of the human genome 

      Genovese, Giulio; Handsaker, Robert E.; Li, Heng; Altemose, Nicolas; Lindgren, Amelia M.; Chambert, Kimberly; Pasaniuc, Bogdan; Price, Alkes L.; Reich, David; Morton, Cynthia C.; Pollak, Martin R.; Wilson, James G.; McCarroll, Steven A. (2013)
      Tens of millions of base pairs of euchromatic human genome sequence, including many protein-coding genes, have no known location in the human genome. We describe an approach for localizing the human genome's missing pieces ...