Terminal deletion of chromosome 13 in a fetus with normal NIPT: The added value of invasive prenatal diagnosis in the NIPT era

by Evy Vervecken, Bettina Blaumeiser, Tina Vanderheyden, Jan Hauspy, Katrien Janssens
Published 2020-08-01

Pushing the Limits of Prenatal Ultrasound: A Case of Dorsal Dermal Sinus Associated with an Overt Arnold–Chiari Malformation and a 3q Duplication

by Olivier Leroij, Lennart Van der Veeken, Bettina Blaumeiser, Katrien Janssens
Published 2021-07-01

Human Rab7 mutation mimics features of Charcot–Marie–Tooth neuropathy type 2B in Drosophila

by Katrien Janssens, Sofie Goethals, Derek Atkinson, Biljana Ermanoska, Erik Fransen, Albena Jordanova, Michaela Auer-Grumbach, Bob Asselbergh, Vincent Timmerman
Published 2014-05-01

Genetic Testing Contributes to Diagnosis in Cerebral Palsy: Aicardi-Goutières Syndrome as an Example

by Diane Beysen, Chania De Cordt, Charlotte Dielman, Benson Ogunjimi, Benson Ogunjimi, Benson Ogunjimi, Julie Dandelooy, Edwin Reyniers, Katrien Janssens, Marije M.E. Meuwissen, Marije M.E. Meuwissen
Published 2021-04-01

Cell-Free DNA From Metastatic Pancreatic Neuroendocrine Tumor Patients Contains Tumor-Specific Mutations and Copy Number Variations

by Gitta Boons, Gitta Boons, Timon Vandamme, Timon Vandamme, Timon Vandamme, Timon Vandamme, Marc Peeters, Marc Peeters, Matthias Beyens, Matthias Beyens, Ann Driessen, Katrien Janssens, Karen Zwaenepoel, Geert Roeyen, Guy Van Camp, Ken Op de Beeck, Ken Op de Beeck
Published 2018-11-01