Dominik S. Westphal

Monogenic variants in dystonia: an exome-wide sequencing study

Michael Zech, Robert Jech, Sylvia Boesch et al. · The Lancet Neurology · 2020 · 206 citations · Full text

Mendelian Disorder, Genetic Disorder, Genetics +3

<i>De novo</i> variants in neurodevelopmental disorders—experiences from a tertiary care center

Theresa Brunet, Robert Jech, Melanie Brügger et al. · Clinical Genetics · 2021 · 111 citations · Full text

Neurogenomics, Brain Development, Genetics +28

Defining clinical subgroups and genotype–phenotype correlations in NBAS-associated disease across 110 patients

Christian Staufner, Bianca Peters, Matias Wagner et al. · Genetics in Medicine · 2019 · 68 citations · Full text

Medicine, Genotype–phenotype Correlations, Genetic Epidemiology +10

Extensive identification of genes involved in congenital and structural heart disorders and cardiomyopathy

Nadine Spielmann, Gregor Miller, Tudor I. Oprea et al. · Nature Cardiovascular Research · 2022 · 66 citations · Full text

Cardiac Muscle, Heart Failure, Engineering +21

Reclassification of genetic variants in children with long QT syndrome

Dominik S. Westphal, Tobias Burkard, Alexander Moscu‐Gregor et al. · Molecular Genetics & Genomic Medicine · 2020 · 36 citations · Full text