Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder.

Autor: Krupp DR; Department of Molecular & Medical Genetics, Oregon Health & Science University, Portland, OR 97239, USA., Barnard RA; Department of Molecular & Medical Genetics, Oregon Health & Science University, Portland, OR 97239, USA., Duffourd Y; Equipe d'Accueil 4271, Génétique des Anomalies du Développement, Université Bourgogne Franche-Comté, 21000 Dijon, France., Evans SA; Department of Molecular & Medical Genetics, Oregon Health & Science University, Portland, OR 97239, USA., Mulqueen RM; Department of Molecular & Medical Genetics, Oregon Health & Science University, Portland, OR 97239, USA., Bernier R; Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, WA 98195, USA., Rivière JB; Department of Human Genetics, McGill University, Montréal, QC H3A 1B1, Canada., Fombonne E; Department of Psychiatry, Oregon Health & Science University, Portland, OR 97239, USA., O'Roak BJ; Department of Molecular & Medical Genetics, Oregon Health & Science University, Portland, OR 97239, USA. Electronic address: oroak@ohsu.edu.

Publikováno v: American journal of human genetics [Am J Hum Genet] 2017 Sep 07; Vol. 101 (3), pp. 369-390. Date of Electronic Publication: 2017 Aug 31.

Transcriptome profiling of genes involved in neural tube closure during human embryonic development using long serial analysis of gene expression (long-SAGE).

Autor: Krupp DR; Center for Human Genetics, Department of Medicine, Duke University Medical Center, Durham, North Carolina 27710, USA., Xu PT, Thomas S, Dellinger A, Etchevers HC, Vekemans M, Gilbert JR, Speer MC, Ashley-Koch AE, Gregory SG

Publikováno v: Birth defects research. Part A, Clinical and molecular teratology [Birth Defects Res A Clin Mol Teratol] 2012 Sep; Vol. 94 (9), pp. 683-92. Date of Electronic Publication: 2012 Jul 18.