Tissue-specific TCF4 triplet repeat instability revealed by optical genome mapping
UK Research and Innovation, Moorfields Eye Charity, Fight for Sight, Medical Research Council, NIHR BRC at Moorfields Eye Hospital and UCL Institute of Ophthalmology, Grantová Agentura České Republiky, Univerzita Karlova v Praze, the National Brain Appeal's Innovation Fund and Rosetrees Trust.
Authors
- Pavlína Skalická (ORCID: https://orcid.org/0000-0002-7403-3433)
- Andrea Cortese (ORCID: https://orcid.org/0000-0002-2208-5311)
- Siyin Liu (ORCID: https://orcid.org/0000-0003-2684-4212)
- Petra Lišková (ORCID: https://orcid.org/0000-0001-7834-8486)
- Stéphanie Efthymiou (ORCID: https://orcid.org/0000-0003-4900-9877)
- Ľubica Ďuďáková (ORCID: https://orcid.org/0000-0003-4718-8955)
- Natalia Dominik (ORCID: https://orcid.org/0000-0001-7476-6605)
- Alice E. Davidson (ORCID: https://orcid.org/0000-0002-1816-6151)
- Stefano Facchini
- Nihar Bhattacharyya (ORCID: https://orcid.org/0000-0002-6496-2431)
- Stephen J. Tuft (ORCID: https://orcid.org/0000-0001-9385-220X)
- Amanda N. Sadan (ORCID: https://orcid.org/0000-0002-3652-8750)
- Alison J. Hardcastle (ORCID: https://orcid.org/0000-0002-0038-6770)
- Christina Zarouchlioti (ORCID: https://orcid.org/0000-0002-5096-177X)
- Kirithika Muthusamy (ORCID: https://orcid.org/0000-0001-6009-0923)
- Anita Szabó (ORCID: https://orcid.org/0000-0002-8912-897X)
- Henry Houlden (ORCID: https://orcid.org/0000-0002-2866-7777)
- Enrico Bugiardini (ORCID: https://orcid.org/0000-0002-9709-6699)
- Michael E. Cheetham (ORCID: https://orcid.org/0000-0001-6429-654X)
- Marcos Abreu Costa
- Albert S. Jun (ORCID: https://orcid.org/0000-0001-8650-2279)
Institutions
- Moorfields Eye Hospital NHS Foundation Trust (GB)
- Johns Hopkins University (US)
- Charles University (CZ)
- Johns Hopkins Medicine (US)
- Moorfields Eye Hospital (GB)
- Johns Hopkins Hospital (US)
- National Hospital for Neurology and Neurosurgery (GB)
- General University Hospital in Prague (CZ)
- University College London (GB)
Publication Details
- Journal
- EBioMedicine
- Published
- 2024-09-14
- DOI
- https://doi.org/10.1016/j.ebiom.2024.105328
- Citations
- 15
- Primary Topic
- Genetics and Neurodevelopmental Disorders
- Type
- article
- Field-Weighted Citation Impact
- 8.25
Funders
- UK Research and Innovation
- NIHR Biomedical Research Centre, Royal Marsden NHS Foundation Trust/Institute of Cancer Research
- National Institute for Health and Care Research
- Sight Research UK
- Fight for Sight UK
- Rosetrees Trust
- Grantová Agentura České Republiky
- Moorfields Eye Hospital NHS Foundation Trust
- Moorfields Eye Charity
- Medical Research Council