Area of research
Clinical Biochemistry · Genetics
Research interest
Research interests include Metabolism and Genetic Disorders, Genomics and Rare Diseases, Mitochondrial Function and Pathology, and Ethics in Clinical Research.
Correspondence on “Phenylalanine hydroxylase deficiency diagnosis and management: A 2023 evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG)” by Smith et al
How do parents decide on genetic testing in pediatrics? A systematic review
Long-Term Outcomes of Adolescents and Young Adults Identified by Metabolic Newborn Screening
Paediatric acute liver failure: A prospective, nationwide, population‐based surveillance study in Germany
Treatment Outcomes for Maple Syrup Urine Disease Detected by Newborn Screening
Outcomes after newborn screening for propionic and methylmalonic acidemia and homocystinurias
Parental and child's psychosocial and financial burden living with an inherited metabolic disease identified by newborn screening
Neurological outcome in long‐chain hydroxy fatty acid oxidation disorders
Vitamin B12 Deficiency Newborn Screening
Genetic landscape of pediatric acute liver failure of indeterminate origin
Isovaleric aciduria identified by newborn screening: Strategies to predict disease severity and stratify treatment
Collaborative evaluation study on 18 candidate diseases for newborn screening in 1.77 million samples
aRgus: Multilevel visualization of non-synonymous single nucleotide variants & advanced pathogenicity score modeling for genetic vulnerability assessment
Towards Achieving Equity and Innovation in Newborn Screening across Europe
Long‐term anthropometric development of individuals with inherited metabolic diseases identified by newborn screening
Newborn screening and disease variants predict neurological outcome in isovaleric aciduria
Refining Genotypes and Phenotypes in KCNA2-Related Neurological Disorders
The biochemical subtype is a predictor for cognitive function in glutaric aciduria type 1: a national prospective follow-up study
Health Outcomes of Infants with Vitamin B12 Deficiency Identified by Newborn Screening and Early Treated
Publisher Correction: The biochemical subtype is a predictor for cognitive function in glutaric aciduria type 1: a national prospective follow-up study
Impaired mitophagy links mitochondrial disease to epithelial stress in methylmalonyl-CoA mutase deficiency
Long-term Outcomes of Individuals With Metabolic Diseases Identified Through Newborn Screening
Genotypic diversity and phenotypic spectrum of infantile liver failure syndrome type 1 due to variants in LARS1
Health‐related quality of life in paediatric patients with intoxication‐type inborn errors of metabolism: Analysis of an international data set
The Phenotypic Spectrum of PRRT2-Associated Paroxysmal Neurologic Disorders in Childhood
Crystal structure and interaction studies of human DHTKD1 provide insight into a mitochondrial megacomplex in lysine catabolism
Impact of interventional and non‐interventional variables on anthropometric long‐term development in glutaric aciduria type 1: A national prospective multi‐centre study
ADP-dependent glucokinase as a novel onco-target for haematological malignancies
Safety and efficacy of mTOR inhibitor treatment in patients with tuberous sclerosis complex under 2 years of age – a multicenter retrospective study
Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia