Re-annotation of 191 developmental and epileptic encephalopathy-associated genes unmasks de novo variants in SCN1A.

Steward CA, Roovers J, Suner MM, Gonzalez JM, Uszczynska-Ratajczak B, Pervouchine D, Fitzgerald S, Viola M, Stamberger H, Hamdan FF, Ceulemans B, Leroy P, Nava C, Lepine A, Tapanari E, Keiller D, Abbs S, Sanchis-Juan A, Grozeva D, Rogers AS, Diekhans M, Guigó R, Petryszak R, Minassian BA, Cavalleri G, Vitsios D, Petrovski S, Harrow J, Flicek P, Lucy Raymond F, Lench NJ, Jonghe P, Mudge JM, Weckhuysen S, Sisodiya SM, Frankish A

Open source

DOI: 10.1038/s41525-019-0106-7
Published: 2019
Container: NPJ genomic medicine
Publisher: Not recorded
Open access: yes

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Cite this work

BibTeX

@article{allodium:10.1038/s41525-019-0106-7,
  title = {Re-annotation of 191 developmental and epileptic encephalopathy-associated genes unmasks de novo variants in SCN1A.},
  author = {Steward CA and Roovers J and Suner MM and Gonzalez JM and Uszczynska-Ratajczak B and Pervouchine D and Fitzgerald S and Viola M and Stamberger H and Hamdan FF and Ceulemans B and Leroy P and Nava C and Lepine A and Tapanari E and Keiller D and Abbs S and Sanchis-Juan A and Grozeva D and Rogers AS and Diekhans M and Guigó R and Petryszak R and Minassian BA and Cavalleri G and Vitsios D and Petrovski S and Harrow J and Flicek P and Lucy Raymond F and Lench NJ and Jonghe P and Mudge JM and Weckhuysen S and Sisodiya SM and Frankish A},
  year = {2019},
  journal = {NPJ genomic medicine},
  doi = {10.1038/s41525-019-0106-7},
  url = {https://doi.org/10.1038/s41525-019-0106-7}
}

RIS

TY  - JOUR
TI  - Re-annotation of 191 developmental and epileptic encephalopathy-associated genes unmasks de novo variants in SCN1A.
AU  - Steward CA
AU  - Roovers J
AU  - Suner MM
AU  - Gonzalez JM
AU  - Uszczynska-Ratajczak B
AU  - Pervouchine D
AU  - Fitzgerald S
AU  - Viola M
AU  - Stamberger H
AU  - Hamdan FF
AU  - Ceulemans B
AU  - Leroy P
AU  - Nava C
AU  - Lepine A
AU  - Tapanari E
AU  - Keiller D
AU  - Abbs S
AU  - Sanchis-Juan A
AU  - Grozeva D
AU  - Rogers AS
AU  - Diekhans M
AU  - Guigó R
AU  - Petryszak R
AU  - Minassian BA
AU  - Cavalleri G
AU  - Vitsios D
AU  - Petrovski S
AU  - Harrow J
AU  - Flicek P
AU  - Lucy Raymond F
AU  - Lench NJ
AU  - Jonghe P
AU  - Mudge JM
AU  - Weckhuysen S
AU  - Sisodiya SM
AU  - Frankish A
PY  - 2019
JO  - NPJ genomic medicine
DO  - 10.1038/s41525-019-0106-7
UR  - https://doi.org/10.1038/s41525-019-0106-7
ER  -

APA

CA, S., J, R., MM, S., JM, G., B, U., D, P., S, F., M, V., H, S., FF, H., B, C., P, L., C, N., A, L., E, T., D, K., S, A., A, S., D, G., AS, R., M, D., R, G., R, P., BA, M., G, C., D, V., S, P., J, H., P, F., F, L. R., NJ, L., P, J., JM, M., S, W., SM, S., & A, F. (2019). Re-annotation of 191 developmental and epileptic encephalopathy-associated genes unmasks de novo variants in SCN1A.. NPJ genomic medicine. https://doi.org/10.1038/s41525-019-0106-7

Source records

pubmed · retrieved 2026-09-26T08:03:44.901Z