Molecular Analysis through Whole Exome Sequencing in Ataxia Telangiectasia Patients: Beyond <scp> <i>ATM</i> </scp>
Our findings highlight the phenotypic and genetic heterogeneity of AT and limitations of WES. We propose the integration of whole-genome sequencing (WGS) and RNA sequencing as complementary tools to improve diagnostic yield in AT and AT-like syndromes.
Authors
- Lucimara Cruz de Souza (ORCID: https://orcid.org/0000-0001-5795-7960)
- Carolina Sanchez Aranda Lago
- Thiago Yoshinaga Tonholo Silva (ORCID: https://orcid.org/0000-0002-7185-8309)
- Ivana Rocha Raslan (ORCID: https://orcid.org/0000-0001-8575-7747)
- Orlando Graziani Póvoas Barsottini (ORCID: https://orcid.org/0000-0002-0107-0831)
- Luane Abdalla Gouvea (ORCID: https://orcid.org/0000-0002-8194-8412)
- Luiz Eduardo Novis (ORCID: https://orcid.org/0000-0003-1479-2953)
- José Luiz Pedroso (ORCID: https://orcid.org/0000-0002-1672-8894)
- Talita Lemos Neves Barreto (ORCID: https://orcid.org/0000-0001-5440-4615)
Institutions
- Universidade Federal de São Paulo (BR)
Publication Details
- Journal
- Movement Disorders Clinical Practice
- Published
- 2025-11-04
- DOI
- https://doi.org/10.1002/mdc3.70418
- Primary Topic
- Genetic Neurodegenerative Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00