Case of Aicardi-Goutières syndrome diagnosed in adulthood on whole-genome sequencing

Lewis Cobb, Jayant Kumar, Amit Roy, Sarah Walsh, Una-Marie Sheerin

Open source

DOI: 10.1136/bmjno-2025-001407
Published: 2026-07
Container: BMJ Neurology Open
Publisher: BMJ
Open access: unknown

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Cite this work

BibTeX

@article{allodium:10.1136/bmjno-2025-001407,
  title = {Case of Aicardi-Goutières syndrome diagnosed in adulthood on whole-genome sequencing},
  author = {Lewis Cobb and Jayant Kumar and Amit Roy and Sarah Walsh and Una-Marie Sheerin},
  year = {2026},
  journal = {BMJ Neurology Open},
  doi = {10.1136/bmjno-2025-001407},
  url = {https://doi.org/10.1136/bmjno-2025-001407}
}

RIS

TY  - JOUR
TI  - Case of Aicardi-Goutières syndrome diagnosed in adulthood on whole-genome sequencing
AU  - Lewis Cobb
AU  - Jayant Kumar
AU  - Amit Roy
AU  - Sarah Walsh
AU  - Una-Marie Sheerin
PY  - 2026
JO  - BMJ Neurology Open
DO  - 10.1136/bmjno-2025-001407
UR  - https://doi.org/10.1136/bmjno-2025-001407
ER  -

APA

Cobb, L., Kumar, J., Roy, A., Walsh, S., & Sheerin, U. (2026). Case of Aicardi-Goutières syndrome diagnosed in adulthood on whole-genome sequencing. BMJ Neurology Open. https://doi.org/10.1136/bmjno-2025-001407

Source records

crossref · retrieved 2026-09-26T01:25:26.983Z