Now showing items 1-2 of 2

    • A 600 kb Deletion Syndrome at 16p11.2 Leads to Energy Imbalance and Neuropsychiatric Disorders 

      Zufferey, Flore; Sherr, Elliott H; Beckmann, Noam D; Hanson, Ellen M.; Maillard, Anne M; Hippolyte, Loyse; Macé, Aurélien; Ferrari, Carina; Kutalik, Zoltán; Andrieux, Joris; Aylward, Elizabeth; Barker, Mandy; Bernier, Raphael; Bouquillon, Sonia; Conus, Philippe; Delobel, Bruno; Faucett, W Andrew; Goin-Kochel, Robin P; Grant, Ellen; Harewood, Louise; Hunter, Jill V; Lebon, Sébastien; Ledbetter, David H; Martin, Christa Lese; Männik, Katrin; Martinet, Danielle; Mukherjee, Pratik; Ramocki, Melissa B; Spence, Sarah J; Steinman, Kyle J; Tjernagel, Jennifer; Spiro, John E; Reymond, Alexandre; Beckmann, Jacques S; Chung, Wendy K; Jacquemont, Sébastien (BMJ Publishing Group, 2012)
      Background: The recurrent ∼600 kb 16p11.2 BP4-BP5 deletion is among the most frequent known genetic aetiologies of autism spectrum disorder (ASD) and related neurodevelopmental disorders. Objective: To define the medical, ...
    • 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 ...