Nanopore long-read sequencing facilitates accurate diagnosis of KMT2B-related dystonia.

Sorrentino U, Mirza-Schreiber N, Pavlov M, Peymani F, Havrankova P, Indelicato E, Serranová T, Kunc L, Lösecke S, Tilch E, Eck S, Prokisch H, Winkelmann J, Boesch S, Jech R, Graf E, Oexle K, Zech M

Open source

DOI
10.1186/s13148-026-02243-5
Published
2026 Sep 17
Container
Clinical epigenetics
Publisher
Not recorded
Open access
yes

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BibTeX

@article{allodium:10.1186/s13148-026-02243-5,
  title = {Nanopore long-read sequencing facilitates accurate diagnosis of KMT2B-related dystonia.},
  author = {Sorrentino U and Mirza-Schreiber N and Pavlov M and Peymani F and Havrankova P and Indelicato E and Serranová T and Kunc L and Lösecke S and Tilch E and Eck S and Prokisch H and Winkelmann J and Boesch S and Jech R and Graf E and Oexle K and Zech M},
  year = {2026},
  journal = {Clinical epigenetics},
  doi = {10.1186/s13148-026-02243-5},
  url = {https://doi.org/10.1186/s13148-026-02243-5}
}

RIS

TY  - JOUR
TI  - Nanopore long-read sequencing facilitates accurate diagnosis of KMT2B-related dystonia.
AU  - Sorrentino U
AU  - Mirza-Schreiber N
AU  - Pavlov M
AU  - Peymani F
AU  - Havrankova P
AU  - Indelicato E
AU  - Serranová T
AU  - Kunc L
AU  - Lösecke S
AU  - Tilch E
AU  - Eck S
AU  - Prokisch H
AU  - Winkelmann J
AU  - Boesch S
AU  - Jech R
AU  - Graf E
AU  - Oexle K
AU  - Zech M
PY  - 2026
JO  - Clinical epigenetics
DO  - 10.1186/s13148-026-02243-5
UR  - https://doi.org/10.1186/s13148-026-02243-5
ER  - 

APA

U, S., N, M., M, P., F, P., P, H., E, I., T, S., L, K., S, L., E, T., S, E., H, P., J, W., S, B., R, J., E, G., K, O., & M, Z. (2026). Nanopore long-read sequencing facilitates accurate diagnosis of KMT2B-related dystonia.. Clinical epigenetics. https://doi.org/10.1186/s13148-026-02243-5

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