Area of research
Genetics · Hematology
Research interest
Research interests include Medicine, Biology, Mutation, Hematology, Fertility, and Intensive care medicine.
HELIOS Action: Advancing research, education, and equity in hemoglobinopathies across Europe and beyond
The German sickle cell disease registry reveals a surprising risk of acute splenic sequestration and an increased transfusion requirement in patients with compound heterozygous sickle cell disease <scp>HbS</scp>/β‐thalassaemia and no or low <scp>HbA</scp> expression
Finding a balance in reduced toxicity hematopoietic stem cell transplantation for thalassemia: role of infused CD3+ cell count and immunosuppression
Comprehensive <i>in silico</i> and functional studies for classification of <i>EPAS1/HIF2A</i> genetic variants identified in patients with erythrocytosis
Antimicrobial use in pediatric oncology and hematology in Germany and Austria, 2020/2021: a cross-sectional, multi-center point-prevalence study with a multi-step qualitative adjudication process
Effect of the addition of a mental health specialist for evaluation of undiagnosed patients in centres for rare diseases (ZSE-DUO): a prospective, controlled trial with a two-phase cohort design
MR Imaging and Clinical Characteristics of Diffuse Glioneuronal Tumor with Oligodendroglioma-like Features and Nuclear Clusters
Thrombocytosis in children and adolescents—classification, diagnostic approach, and clinical management
Genetic modifiers of fetal hemoglobin affect the course of sickle cell disease in patients treated with hydroxyurea
Next-generation reference intervals for pediatric hematology
Sickle cell disease in Germany: Results from a national registry
Fertility knowledge and associated empowerment following an educational intervention for adolescent cancer patients
Determinants of utilization of cryopreservation of germ cells in adolescent cancer patients in four European countries
Identification of a new VHL exon and complex splicing alterations in familial erythrocytosis or von Hippel-Lindau disease
PanCareLIFE: The scientific basis for a European project to improve long-term care regarding fertility, ototoxicity and health-related quality of life after cancer occurring among children and adolescents
Gene panel sequencing improves the diagnostic work-up of patients with idiopathic erythrocytosis and identifies new mutations
Factors influencing success of clinical genome sequencing across a broad spectrum of disorders
Genetic Basis of Congenital Erythrocytosis: Mutation Update and Online Databases
Erythrocytosis in children and adolescents-classification, characterization, and consensus recommendations for the diagnostic approach