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Gene|March 19, 2020
A novel pathogenic variant in MYO18B associating early-onset muscular hypotonia, and characteristic dysmorphic features, delineation of the phenotypic spectrum of MYO18B-related conditionsTheresa Brunet, Dominik S Westphal, Sandrina Weber, et al.
Clinical Genetics|March 15, 2019
Lessons from exome sequencing in prenatally diagnosed heart defects: A basis for prenatal testingDominik S Westphal, Gloria S Leszinski, Esther Rieger-Fackeldey, et al.
Annals of Clinical and Translational Neurology|October 1, 2019
Phenotypic variability of GABRA1-related epilepsy in monozygotic twinsMartin Krenn, Margot Ernst, Matthias Tomschik, et al.
Mammalian Genome : Official Journal of the International Mammalian Genome Society|December 9, 2022
Telemedical monitoring in patients with inborn cardiac disease - experience of a tertiary care centreDominik S Westphal, David Federle, Alexander Steger, et al.
European Journal of Human Genetics : EJHG|March 19, 2026
Systematic reassessment of reported variants in individuals with suspicion of Alport spectrum disorder reveals a high rate of ambiguous resultsKorbinian M Riedhammer, Patrick Richthammer, Dominik S Westphal, et al.
Epilepsia|February 13, 2022
A de novo missense variant in GABRA4 alters receptor function in an epileptic and neurodevelopmental phenotypeFlorian D Vogel, Martin Krenn, Dominik S Westphal, et al.
Annals of Clinical and Translational Neurology|May 30, 2019
Biallelic mutations in <i>PIGP</i> cause developmental and epileptic encephalopathyMartin Krenn, Alexej Knaus, Dominik S Westphal, et al.
HGG Advances|January 14, 2024
Clinical interpretation of KCNH2 variants using a robust PS3/BS3 functional patch-clamp assayKate L Thomson, Connie Jiang, Ebony Richardson, et al.
Frontiers in Cardiovascular Medicine|July 22, 2025
Cardiac involvement in female elite athletes with carrier status of Duchenne muscular dystrophySimon Wernhart, Tom Kastner, Martin Halle, et al.
European Journal of Human Genetics : EJHG|April 27, 2022
Exome sequencing in individuals with cardiovascular laterality defects identifies potential candidate genesKatinka Breuer, Korbinian M Riedhammer, Nicole Müller, et al.
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