Dr Kristen Hoffbuhr
Research Center for Genetics Medicine
Children's National Medical Center
Washington DC 20010 USA
Submitting Mutations to RettBASE
We are grateful to our collaborators, who donated their time and effect to provide us with a significant proportion of the data that you see in RettBASE. We encourage submissions from research groups, diagnostic laboratories, doctors/clinicians and counsellors. Please choose one of the formats below to submit your data.
Found a published mutation that we've missed or recently published a variant that we should upload? Send us an email at john.christodoulou@mcri.edu.au.
- Choose a format to enter your data:
- Single mutation - Word document or PDF format
- Bulk submission - Excel spreadsheet
- 2. Download the guide to filling in the submission form:
- Glossary of terms in word/pdf form
- Terms in Excel spreadsheet
3. (Optional) Download the ID generator file (Excel spreadsheet) and follow the instructions within : Sample ID generator
The sample ID generated is used to protect patient anonymity and to avoid multiple entries of the same patient. It also links any entries in this database with the corresponding ones in the clinical database (InterRett). If this optional step is not completed, the curator will create a sample ID using the proband details.
4. Return the completed forms to us by email john.christodoulou@mcri.edu.au..
N.B. Our direct online submission system is currently down. Previously registered users, please follow the steps outlined above to submit your data. We apologise for any inconvenience caused.
Collaborators
Due to security reasons, email addresses have been removed from this list. If you have a query regarding a particular mutation and would like to get in touch with one of our collaborators, please contact us (at john.christodoulou@mcri.edu.au) and we can redirect your query.