Area of research
Clinical Biochemistry · Genetics
Research interest
Research focused on Dystonia and Exome sequencing, with related work in Disease, Phenotype, Interferon. Notable publications include 'Monogenic variants in dystonia: an exome-wide sequencing study', 'Recurrent acute liver failure due to NBAS deficiency: phenotypic spectrum, disease mechanisms, and therapeutic concepts', and 'Multisystem inflammation and susceptibility to viral infections in human ZNFX1 deficiency'.
Paediatric acute liver failure: A prospective, nationwide, population‐based surveillance study in Germany
Simultaneous determination of cytosolic aminoacyl-tRNA synthetase activities by LC–MS/MS
Genetic landscape of pediatric acute liver failure of indeterminate origin
aRgus: Multilevel visualization of non-synonymous single nucleotide variants & advanced pathogenicity score modeling for genetic vulnerability assessment
Multisystem inflammation and susceptibility to viral infections in human ZNFX1 deficiency
Monogenic variants in dystonia: an exome-wide sequencing study
Genotypic diversity and phenotypic spectrum of infantile liver failure syndrome type 1 due to variants in LARS1
Defining clinical subgroups and genotype–phenotype correlations in NBAS-associated disease across 110 patients
SCYL1 variants cause a syndrome with lowγ-glutamyl-transferase cholestasis, acute liver failure, and neurodegeneration (CALFAN)
Cutis laxa, exocrine pancreatic insufficiency and altered cellular metabolomics as additional symptoms in a new patient with ATP6AP1-CDG
Progressive deafness–dystonia due to <i>SERAC1</i> mutations: A study of 67 cases
Impact of clinical exomes in neurodevelopmental and neurometabolic disorders
<i>MPV17</i>-related mitochondrial DNA maintenance defect: New cases and review of clinical, biochemical, and molecular aspects
3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: Clinical presentation and outcome in a series of 37 patients
Abstracts of the 52nd Workshop for Pediatric Research
Consensus recommendations for the diagnosis, treatment and follow‐up of inherited methylation disorders
Recurrent acute liver failure due to NBAS deficiency: phenotypic spectrum, disease mechanisms, and therapeutic concepts
Cross‐sectional observational study of 208 patients with non‐classical urea cycle disorders