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Profile
| Academic position | Lecturer, Assistant Professor, Researcher |
|---|---|
| Research fields | Human Genetics |
| Keywords | Neurodevelopmental disorders, Whole Genome Sequencing, Next Generation Sequencing, Whole Exom Sequencing, Consanguineous Families |
Current contact address
| Country | Germany |
|---|---|
| City | Tübingen |
| Institution | Eberhard Karls Universität Tübingen |
| Institute | Universitätsklinikum, Institut für Medizinische Genetik und Angewandte Genomik |
Host during sponsorship
| Prof. Dr. med. Olaf Rieß | Universitätsklinikum, Institut für Medizinische Genetik und Angewandte Genomik, Eberhard Karls Universität Tübingen, Tübingen |
|---|---|
| Dr. Haack Tobias | Universitätsklinikum, Institut für Medizinische Genetik und Angewandte Genomik, Eberhard Karls Universität Tübingen, Tübingen |
| Start of initial sponsorship | 01/04/2023 |
Program(s)
| 2022 | Georg Forster Research Fellowship Programme for Postdocs |
|---|
Publications (partial selection)
| 2024 | First Author and second corrospondance: Further delineation of Wiedemann-Rautenstrauchsyndrome linked with POLR3A. In: Molecular Genetics and Genomic Medcine, 2024, 1-9 |
|---|---|
| 2023 | Co Author: Developmental epileptic encephalopathy in DLG4-related synaptopathy. In: Epilepsia, 2023, 1-24 |
| 2023 | Corrospondance author: Exome sequencing identifies homozygous variants in MBOAT7 associated with neurodevelopmental disorder. . In: Clinical Genetics, 2023, 1-7 |
| 2023 | Correspondence Author: Panoramic variation analysis of a family withneurodevelopmental disorders caused bybiallelic loss-of-function variants inTMEM141, DDHD2, and LHFPL5. In: Frontiers of Medicine, 2023, 17 |