Christel Depienne
Molekularbiologin
Werke:
- Hypomorphic variants of cationic amino acid transporter 3 in males with autism spectrum disorders
- Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU
- Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing
- Characterization of intronic pentanucleotide expansions in neurological disorders