Medical Director, Medical Genetics, University Hospital Basel
Head Medical Genetics Diagnostic Laboratory, section constitutional/molecular cytogenetics
Head of Research Group Clinical Genomics of congenital developmental disorders, Department of Clinical Research (DKF), Universitätsspital Basel
Honorary associate Faculty member, Department of Medical Genetics University of British Columbia, UBC; Vancouver, Canada
University Hospital Basel
Clinical Research Group
PD Dr. med.
FMH/FAMH Medizinische Genetik
Endocrinology, Metabolism & Developmental Disorders
Area of Research
Clinical genomics of congenital developmental disorders
My overall goal is to bridge clinical genetics to genomics and basic science using a translational and interdisciplinary approach, and to ultimately establish genomics in clinical practice in order to improve patient care.
We focus on clinical genomics, combining both in-depth phenotyping and new genomic technologies such as microarray and exome/genome sequencing for gene identification in developmental disorders, since in my postnatal and prenatal medical genetics and related interdisciplinary clinics we see an important number of patients with congenital anomalies of unknown cause.
My recent research expands to the identification of genes and pathways playing a role in early human development and phenotypes specific to fetal life.
Phone: +41 61 265 36 20