MAP2 – A Candidate Gene for Epilepsy, Developmental Delay and Behavioral Abnormalities in a Patient With Microdeletion 2q34

by Dominik S. Westphal, Dominik S. Westphal, Stephanie Andres, Christine Makowski, Thomas Meitinger, Thomas Meitinger, Julia Hoefele
Published 2018-03-01

Reclassification of genetic variants in children with long QT syndrome

by Dominik S. Westphal, Tobias Burkard, Alexander Moscu‐Gregor, Roman Gebauer, Gabriele Hessling, Cordula M. Wolf
Published 2020-09-01

Phenotypic variability of GABRA1‐related epilepsy in monozygotic twins

by Martin Krenn, Margot Ernst, Matthias Tomschik, Marco Treven, Matias Wagner, Dominik S. Westphal, Thomas Meitinger, Ekaterina Pataraia, Fritz Zimprich, Susanne Aull‐Watschinger
Published 2019-11-01

A Case of Ankyloblepharon-ectodermal Defects-cleft Lip/Palate-syndrome with Choanal Atresia and Skin Erosions: Phenotypic Variability of TP63-related Disorders

by Luana Niculescu, Matias Wagner, Dominik S. Westphal, Marcus Fischer, Walter Mihatsch, Anke Prothmann, Thomas Ruzicka, Andreas Wollenberg, Hans Wolff, Heinrich Schmidt, Kathrin A.
Published 2018-09-01

Biallelic mutations in PIGP cause developmental and epileptic encephalopathy

by Martin Krenn, Alexej Knaus, Dominik S. Westphal, Saskia B. Wortmann, Tilman Polster, Friedrich G. Woermann, Michael Karenfort, Ertan Mayatepek, Thomas Meitinger, Matias Wagner, Felix Distelmaier
Published 2019-05-01

Functional interpretation of ATAD3A variants in neuro-mitochondrial phenotypes

by Zheng Yie Yap, Yo Han Park, Saskia B. Wortmann, Adam C. Gunning, Shlomit Ezer, Sukyeong Lee, Lita Duraine, Ekkehard Wilichowski, Kate Wilson, Johannes A. Mayr, Matias Wagner, Hong Li, Usha Kini, Emily Davis Black, Kristin G. Monaghan, James R. Lupski, Sian Ellard, Dominik S. Westphal, Tamar Harel, Wan Hee Yoon
Published 2021-04-01