A case report of RASA1-associated inherited lymphoedema with recurrent life-threatening lymphangitis

por Westphal, Dominik S, Bergmann, Katharina, Martens, Eimo, Ibrahim, Tareq
Publicado 2021

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

por Westphal, Dominik S., Andres, Stephanie, Makowski, Christine, Meitinger, Thomas, Hoefele, Julia
Publicado 2018

The Role of RYR2 in Atrial Fibrillation

por Boehm, Bernhard M., Gaa, Jochen, Hoppmann, Petra, Martens, Eimo, Westphal, Dominik S.
Publicado 2023

Reclassification of genetic variants in children with long QT syndrome

por Westphal, Dominik S., Burkard, Tobias, Moscu‐Gregor, Alexander, Gebauer, Roman, Hessling, Gabriele, Wolf, Cordula M.
Publicado 2020

The missense variant p.(Gly482Arg) in HCN4 is responsible for fetal tachy-bradycardia syndrome

por Wacker-Gussmann, Annette, Oberhoffer-Fritz, Renate, Westphal, Dominik S., Hessling, Gabriele, Wakai, Ronald T., Strasburger, Janette F.
Publicado 2020

Fetal Bradycardia Caused by Monogenic Disorders—A Review of the Literature

por Westphal, Dominik S., Hauser, Michael, Beckmann, Britt-Maria, Wolf, Cordula M., Hessling, Gabriele, Oberhoffer-Fritz, Renate, Wacker-Gussmann, Annette
Publicado 2022

Phenotypic variability of GABRA1‐related epilepsy in monozygotic twins

por Krenn, Martin, Ernst, Margot, Tomschik, Matthias, Treven, Marco, Wagner, Matias, Westphal, Dominik S., Meitinger, Thomas, Pataraia, Ekaterina, Zimprich, Fritz, Aull‐Watschinger, Susanne
Publicado 2019

It Is Not Carved in Stone—The Need for a Genetic Reevaluation of Variants in Pediatric Cardiomyopathies

por Westphal, Dominik Sebastian, Pollmann, Kathrin, Marschall, Christoph, Wacker-Gussmann, Annette, Oberhoffer-Fritz, Renate, Laugwitz, Karl-Ludwig, Ewert, Peter, Wolf, Cordula Maria
Publicado 2022

Telemedical monitoring in patients with inborn cardiac disease – experience of a tertiary care centre

por Westphal, Dominik S., Federle, David, Steger, Alexander, Vodermeier, Tanja, Scheiper-Welling, Stefanie, Jenewein, Tina, Beckmann, Britt-Maria, Kauferstein, Silke, Martens, Eimo, Hahn, Franziska
Publicado 2022

Exome-based gene panel analysis in a cohort of acute juvenile ischemic stroke patients:relevance of NOTCH3 and GLA variants

por Härtl, Johanna, Hartberger, Julia, Wunderlich, Silke, Cordts, Isabell, Bafligil, Cemsel, Sturm, Marc, Westphal, Dominik, Haack, Tobias, Hemmer, Bernhard, Ikenberg, Benno David, Deschauer, Marcus
Publicado 2022

Biallelic mutations in PIGP cause developmental and epileptic encephalopathy

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

A de novo missense variant in GABRA4 alters receptor function in an epileptic and neurodevelopmental phenotype

por Vogel, Florian D., Krenn, Martin, Westphal, Dominik S., Graf, Elisabeth, Wagner, Matias, Leiz, Steffen, Koniuszewski, Filip, Augé‐Stock, Maximilian, Kramer, Georg, Scholze, Petra, Ernst, Margot
Publicado 2022

Exome sequencing in individuals with cardiovascular laterality defects identifies potential candidate genes

por Breuer, Katinka, Riedhammer, Korbinian M., Müller, Nicole, Schaidinger, Birthe, Dombrowsky, Gregor, Dittrich, Sven, Zeidler, Susanne, Bauer, Ulrike M. M., Westphal, Dominik S., Meitinger, Thomas, Dakal, Tikam Chand, Hitz, Marc-Phillip, Breuer, Johannes, Reutter, Heiko, Hilger, Alina C., Hoefele, Julia
Publicado 2022

Functional interpretation of ATAD3A variants in neuro-mitochondrial phenotypes

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