Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish.

Siekierska A, Stamberger H, Deconinck T, Oprescu SN, Partoens M, Zhang Y, Sourbron J, Adriaenssens E, Mullen P, Wiencek P, Hardies K, Lee JS, Giong HK, Distelmaier F, Elpeleg O, Helbig KL, Hersh J, Isikay S, Jordan E, Karaca E, Kecskes A, Lupski JR, Kovacs-Nagy R, May P, Narayanan V, Pendziwiat M, Ramsey K, Rangasamy S, Shinde DN, Spiegel R, Timmerman V, von Spiczak S, Helbig I, C4RCD Research Group, AR working group of the EuroEPINOMICS RES Consortium, Weckhuysen S, Francklyn C, Antonellis A, de Witte P, De Jonghe P

Open source

DOI
10.1038/s41467-018-07953-w
Published
2019 Feb 12
Container
Nature communications
Publisher
Not recorded
Open access
yes

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BibTeX

@article{allodium:10.1038/s41467-018-07953-w,
  title = {Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish.},
  author = {Siekierska A and Stamberger H and Deconinck T and Oprescu SN and Partoens M and Zhang Y and Sourbron J and Adriaenssens E and Mullen P and Wiencek P and Hardies K and Lee JS and Giong HK and Distelmaier F and Elpeleg O and Helbig KL and Hersh J and Isikay S and Jordan E and Karaca E and Kecskes A and Lupski JR and Kovacs-Nagy R and May P and Narayanan V and Pendziwiat M and Ramsey K and Rangasamy S and Shinde DN and Spiegel R and Timmerman V and von Spiczak S and Helbig I and C4RCD Research Group and AR working group of the EuroEPINOMICS RES Consortium and Weckhuysen S and Francklyn C and Antonellis A and de Witte P and De Jonghe P},
  year = {2019},
  journal = {Nature communications},
  doi = {10.1038/s41467-018-07953-w},
  url = {https://doi.org/10.1038/s41467-018-07953-w}
}

RIS

TY  - JOUR
TI  - Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish.
AU  - Siekierska A
AU  - Stamberger H
AU  - Deconinck T
AU  - Oprescu SN
AU  - Partoens M
AU  - Zhang Y
AU  - Sourbron J
AU  - Adriaenssens E
AU  - Mullen P
AU  - Wiencek P
AU  - Hardies K
AU  - Lee JS
AU  - Giong HK
AU  - Distelmaier F
AU  - Elpeleg O
AU  - Helbig KL
AU  - Hersh J
AU  - Isikay S
AU  - Jordan E
AU  - Karaca E
AU  - Kecskes A
AU  - Lupski JR
AU  - Kovacs-Nagy R
AU  - May P
AU  - Narayanan V
AU  - Pendziwiat M
AU  - Ramsey K
AU  - Rangasamy S
AU  - Shinde DN
AU  - Spiegel R
AU  - Timmerman V
AU  - von Spiczak S
AU  - Helbig I
AU  - C4RCD Research Group
AU  - AR working group of the EuroEPINOMICS RES Consortium
AU  - Weckhuysen S
AU  - Francklyn C
AU  - Antonellis A
AU  - de Witte P
AU  - De Jonghe P
PY  - 2019
JO  - Nature communications
DO  - 10.1038/s41467-018-07953-w
UR  - https://doi.org/10.1038/s41467-018-07953-w
ER  - 

APA

A, S., H, S., T, D., SN, O., M, P., Y, Z., J, S., E, A., P, M., P, W., K, H., JS, L., HK, G., F, D., O, E., KL, H., J, H., S, I., E, J., E, K., A, K., JR, L., R, K., P, M., V, N., M, P., K, R., S, R., DN, S., R, S., V, T., S, V. S., I, H., Group, C. R., Consortium, A. W. G. O. T. E. R., S, W., C, F., A, A., P, D. W., & P, D. J. (2019). Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish.. Nature communications. https://doi.org/10.1038/s41467-018-07953-w

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