Area of research
Surgery · Rheumatology
Research interest
Research interests include Medicine, Biology, Atresia, Tracheoesophageal fistula, Genetics, and Copy-number variation.
Treatment of Anorectal Malformations in German Hospitals: Analysis of National Hospital Discharge Data from 2016 to 2021
Genome-wide identification of disease-causing copy number variations in 450 individuals with anorectal malformations
Human exome and mouse embryonic expression data implicate ZFHX3, TRPS1, and CHD7 in human esophageal atresia
Array‐based molecular karyotyping in 115 VATER/VACTERL and VATER/VACTERL‐like patients identifies disease‐causing copy number variations
Epidemiologic analysis of families with isolated anorectal malformations suggests high prevalence of autosomal dominant inheritance
Comparison of environmental risk factors for esophageal atresia, anorectal malformations, and the combined phenotype in 263 German families
Heterozygous <i>FGF8</i> mutations in patients presenting cryptorchidism and multiple VATER/VACTERL features without limb anomalies
Genome‐wide mapping of copy number variations in patients with both anorectal malformations and central nervous system abnormalities
Whole-exome resequencing reveals recessive mutations in TRAP1 in individuals with CAKUT and VACTERL association
De novo 13q deletions in two patients with mild anorectal malformations as part of VATER/VACTERL and VATER/VACTERL‐like association and analysis of <i>EFNB2</i> in patients with anorectal malformations
De novo microduplications at 1q41, 2q37.3, and 8q24.3 in patients with VATER/VACTERL association
Practice of dilatation after surgical correction in anorectal malformations
Inheritance of the VATER/VACTERL association
Assisted reproductive techniques and the risk of anorectal malformations: a German case-control study