Exome sequencing in syndromic brain malformations identifies novel mutations in <i>ACTB</i>, and <i>SLC9A6</i>, and suggests <i>BAZ1A</i> as a new candidate gene

Valerie Weitensteiner(University of Bonn), Heiko Reutter(University Hospital Bonn), Matthias Marks(Max Planck Institute for Molecular Genetics), Alina C. Hilger(Universitätsklinikum Erlangen), Janine Altmüller(Max Delbrück Center), Michael Ludwig(University of Chicago), Hölger Thiele(Leipzig Heart Institute), Damian J. Ralser(University of Bonn), Jan Gehlen(Philipps University of Marburg), Amit Sharma(University Hospital Bonn), Benjamin Odermatt(University of Bonn), U. Gembruch(University Hospital Bonn), Johannes Schumacher(Philipps University of Marburg), Bernhard G. Herrmann(Max Planck Institute for Molecular Genetics), Julia Bungenberg(University of Bonn), Albert J. Becker(University of Bonn), Rong Zhang(Huazhong Agricultural University), Waltraut M. Merz
Birth Defects Research
February 1, 2018
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