Browsing by Author "Rappaport, Leonard"

Now showing items 1-3 of 3

    • Characteristics and Predictive Value of Blood Transcriptome Signature in Males with Autism Spectrum Disorders 

      Kong, Sek Won; Collins, Christin D.; Shimizu-Motohashi, Yuko; Holm, Ingrid A.; Campbell, Malcolm G.; Lee, In-Hee; Brewster, Stephanie J.; Hanson, Ellen M.; Harris, Heather; Lowe, Kathryn R.; Saada, Adrianna; Mora, Andrea; Madison, Kimberly; Hundley, Rachel; Egan, Jessica; McCarthy, Jillian; Eran, Ally; Galdzicki, Michal; Rappaport, Leonard; Kunkel, Louis M.; Kohane, Isaac S. (Public Library of Science, 2012)
      Autism Spectrum Disorders (ASD) is a spectrum of highly heritable neurodevelopmental disorders in which known mutations contribute to disease risk in 20% of cases. Here, we report the results of the largest blood transcriptome ...

    • The Co-Morbidity Burden of Children and Young Adults with Autism Spectrum Disorders 

      Wattanasin, Nich; Churchill, Susanne; Kohane, Isaac Samuel; McMurry, Andrew; MacFadden, Douglas; Rappaport, Leonard Allan; Kunkel, Louis Martens; Bickel, Jonathan; Spence, Sarah J.; Murphy, Shawn Norman; Weber, Griffin M. (Public Library of Science, 2012)
      Objectives: Use electronic health records Autism Spectrum Disorder (ASD) to assess the comorbidity burden of ASD in children and young adults. Study Design: A retrospective prevalence study was performed using a distributed ...

    • Safety, pharmacokinetics, and preliminary assessment of efficacy of mecasermin (recombinant human IGF-1) for the treatment of Rett syndrome 

      Khwaja, O. S.; Ho, E.; Barnes, K. V.; O, H. M.; Pereira, Luis Marcelo; Finkelstein, Y.; Nelson, Charles A.; Vogel-Farley, V.; DeGregorio, G.; Holm, Ingrid Adele; Khatwa, Umakanth A.; Kapur, Kush; Alexander, Mark Edward; Finnegan, D. M.; Cantwell, N. G.; Walco, A. C.; Rappaport, Leonard Allan; Gregas, M.; Fichorova, Raina Nakova; Shannon, M. W.; Sur, M.; Kaufmann, Walter E (Proceedings of the National Academy of Sciences, 2014)
      Rett syndrome (RTT) is a severe X-linked neurodevelopmental disorder mainly affecting females and is associated with mutations in MECP2, the gene encoding methyl CpG-binding protein 2. Mouse models suggest that recombinant ...