Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next-generation sequencing study.

Mirzaa GM, Conti V, Timms AE, Smyser CD, Ahmed S, Carter M, Barnett S, Hufnagel RB, Goldstein A, Narumi-Kishimoto Y, Olds C, Collins S, Johnston K, Deleuze JF, Nitschké P, Friend K, Harris C, Goetsch A, Martin B, Boyle EA, Parrini E, Mei D, Tattini L, Slavotinek A, Blair E, Barnett C, Shendure J, Chelly J, Dobyns WB, Guerrini R

Open source

DOI: 10.1016/s1474-4422(15)00278-1
Published: 2015 Dec
Container: The Lancet. Neurology
Publisher: Not recorded
Open access: yes

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Cite this work

BibTeX

@article{allodium:10.1016/s1474-4422-15-00278-1,
  title = {Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next-generation sequencing study.},
  author = {Mirzaa GM and Conti V and Timms AE and Smyser CD and Ahmed S and Carter M and Barnett S and Hufnagel RB and Goldstein A and Narumi-Kishimoto Y and Olds C and Collins S and Johnston K and Deleuze JF and Nitschké P and Friend K and Harris C and Goetsch A and Martin B and Boyle EA and Parrini E and Mei D and Tattini L and Slavotinek A and Blair E and Barnett C and Shendure J and Chelly J and Dobyns WB and Guerrini R},
  year = {2015},
  journal = {The Lancet. Neurology},
  doi = {10.1016/s1474-4422(15)00278-1},
  url = {https://doi.org/10.1016/s1474-4422(15)00278-1}
}

RIS

TY  - JOUR
TI  - Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next-generation sequencing study.
AU  - Mirzaa GM
AU  - Conti V
AU  - Timms AE
AU  - Smyser CD
AU  - Ahmed S
AU  - Carter M
AU  - Barnett S
AU  - Hufnagel RB
AU  - Goldstein A
AU  - Narumi-Kishimoto Y
AU  - Olds C
AU  - Collins S
AU  - Johnston K
AU  - Deleuze JF
AU  - Nitschké P
AU  - Friend K
AU  - Harris C
AU  - Goetsch A
AU  - Martin B
AU  - Boyle EA
AU  - Parrini E
AU  - Mei D
AU  - Tattini L
AU  - Slavotinek A
AU  - Blair E
AU  - Barnett C
AU  - Shendure J
AU  - Chelly J
AU  - Dobyns WB
AU  - Guerrini R
PY  - 2015
JO  - The Lancet. Neurology
DO  - 10.1016/s1474-4422(15)00278-1
UR  - https://doi.org/10.1016/s1474-4422(15)00278-1
ER  -

APA

GM, M., V, C., AE, T., CD, S., S, A., M, C., S, B., RB, H., A, G., Y, N., C, O., S, C., K, J., JF, D., P, N., K, F., C, H., A, G., B, M., EA, B., E, P., D, M., L, T., A, S., E, B., C, B., J, S., J, C., WB, D., & R, G. (2015). Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next-generation sequencing study.. The Lancet. Neurology. https://doi.org/10.1016/s1474-4422(15)00278-1

Source records

pubmed · retrieved 2026-09-27T10:03:56.180Z