About
Contact & Profiles
A5085479122
Research Areas
- Genomics and Rare Diseases
- Genomic variations and chromosomal abnormalities
- Genetics and Neurodevelopmental Disorders
- Autism Spectrum Disorder Research
- Genetic factors in colorectal cancer
Technical University of Munich
2021-2024
Klinikum rechts der Isar
2021-2024
Up to 40% of neurodevelopmental disorders (NDDs) such as intellectual disability, developmental delay, autism spectrum disorder, and motor abnormalities have a documented underlying monogenic defect, primarily due de novo variants. Still, the overall burden variants well novel disease genes in NDDs await discovery. We performed parent-offspring trio exome sequencing 231 individuals with NDDs. Phenotypes were compiled using human phenotype ontology terms. The diagnostic yield was 49.8% (n =...
10.1111/cge.13946
article
EN
cc-by
Clinical Genetics
2021-02-23
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