The European Society of Human Genetics Conference
Poster # C20.1
Tuesday, June 19, 2018 10:00 - 11:15am
Jonas Straub, Enrico D.H. Konrad, Johanna Gruner, Annick Toutain, Levinus A. Bok, Megan T. Cho, Heather P. Crawford,, Holly Dubbs, Ganka Douglas, Rebekah Jobling, Diana Johnson, Bryan Krock, Mohamad A. Mikati, Addie Nesbitt, Joost Nicolai, Meredith Phillips, Annapurna Poduri, Xilma R. Ortiz-Gonzalez, Zöe Powis, Avni B. Santani, Lacey Smith, Alexander P.A. Stegmann, Constance Stumpel, Maaike Vreeburg, Deciphering Developmental Disorders Study, Anna Fliedner, Anne Gregor, Heinrich Sticht, Christiane Zweier. De novo missense variants in RHOBTB2 cause a developmental and epileptic encephalopathy in humans, and altered levels cause neurological defects in Drosophila.
Poster # P08.17A /A
Sunday, June 17, 2018 10:15 - 11:15am Abstract
Konrad Platzer, Wendy K. Chung, Zöe Powis, Eva Brilstra, Marie McDonald, Mohamed Mikati, Megan T. Cho, Ashley C. Taylor, Alexandrea Wadley, Jennifer A. Sullivan, Vandana Shashi, Johannes R. Lemke. De novo variants in SNAP25 cause a spectrum of developmental and epileptic encephalopathy.