Spectrum of Leukodystrophy and Genetic Leukoencephalopathy in Indian Population Diagnosed by Clinical Exome Sequencing and Clinical Utility
This study provides Class IV evidence that proband-only clinical exome sequencing is a useful "first-line investigation" for patients with genetic white matter disorders.
Authors
- Sruthi Nair (ORCID: https://orcid.org/0000-0001-5463-5229)
- Ramshekhar N. Menon (ORCID: https://orcid.org/0000-0002-0972-3307)
- Bejoy Thomas (ORCID: https://orcid.org/0000-0003-0355-3375)
- Kalikavil Puthanveedu Divya (ORCID: https://orcid.org/0000-0002-4695-8842)
- Prashanth Poulose
- Soumya Sundaram (ORCID: https://orcid.org/0000-0001-7351-0878)
- Alfiya Fasaludeen
- Karamala Yalapalli Manisha
- Ajith Cherian
Institutions
- Sree Chitra Thirunal Institute for Medical Sciences and Technology (IN)
Publication Details
- Journal
- Neurology Genetics
- Published
- 2024-08-23
- DOI
- https://doi.org/10.1212/nxg.0000000000200190
- Citations
- 1
- Primary Topic
- RNA regulation and disease
- Type
- article
- Field-Weighted Citation Impact
- 0.23