Pathogenic Variants in CEP85L Cause Sporadic and Familial Posterior Predominant Lissencephaly.

Tsai MH, Muir AM, Wang WJ, Kang YN, Yang KC, Chao NH, Wu MF, Chang YC, Porter BE, Jansen LA, Sebire G, Deconinck N, Fan WL, Su SC, Chung WH, Almanza Fuerte EP, Mehaffey MG, University of Washington Center for Mendelian Genomics, Ng CC, Chan CK, Lim KS, Leventer RJ, Lockhart PJ, Riney K, Damiano JA, Hildebrand MS, Mirzaa GM, Dobyns WB, Berkovic SF, Scheffer IE, Tsai JW, Mefford HC

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DOI: 10.1016/j.neuron.2020.01.027
Published: 2020 Apr 22
Container: Neuron
Publisher: Not recorded
Open access: yes

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Cite this work

BibTeX

@article{allodium:10.1016/j.neuron.2020.01.027,
  title = {Pathogenic Variants in CEP85L Cause Sporadic and Familial Posterior Predominant Lissencephaly.},
  author = {Tsai MH and Muir AM and Wang WJ and Kang YN and Yang KC and Chao NH and Wu MF and Chang YC and Porter BE and Jansen LA and Sebire G and Deconinck N and Fan WL and Su SC and Chung WH and Almanza Fuerte EP and Mehaffey MG and University of Washington Center for Mendelian Genomics and Ng CC and Chan CK and Lim KS and Leventer RJ and Lockhart PJ and Riney K and Damiano JA and Hildebrand MS and Mirzaa GM and Dobyns WB and Berkovic SF and Scheffer IE and Tsai JW and Mefford HC},
  year = {2020},
  journal = {Neuron},
  doi = {10.1016/j.neuron.2020.01.027},
  url = {https://doi.org/10.1016/j.neuron.2020.01.027}
}

RIS

TY  - JOUR
TI  - Pathogenic Variants in CEP85L Cause Sporadic and Familial Posterior Predominant Lissencephaly.
AU  - Tsai MH
AU  - Muir AM
AU  - Wang WJ
AU  - Kang YN
AU  - Yang KC
AU  - Chao NH
AU  - Wu MF
AU  - Chang YC
AU  - Porter BE
AU  - Jansen LA
AU  - Sebire G
AU  - Deconinck N
AU  - Fan WL
AU  - Su SC
AU  - Chung WH
AU  - Almanza Fuerte EP
AU  - Mehaffey MG
AU  - University of Washington Center for Mendelian Genomics
AU  - Ng CC
AU  - Chan CK
AU  - Lim KS
AU  - Leventer RJ
AU  - Lockhart PJ
AU  - Riney K
AU  - Damiano JA
AU  - Hildebrand MS
AU  - Mirzaa GM
AU  - Dobyns WB
AU  - Berkovic SF
AU  - Scheffer IE
AU  - Tsai JW
AU  - Mefford HC
PY  - 2020
JO  - Neuron
DO  - 10.1016/j.neuron.2020.01.027
UR  - https://doi.org/10.1016/j.neuron.2020.01.027
ER  -

APA

MH, T., AM, M., WJ, W., YN, K., KC, Y., NH, C., MF, W., YC, C., BE, P., LA, J., G, S., N, D., WL, F., SC, S., WH, C., EP, A. F., MG, M., Genomics, U. O. W. C. F. M., CC, N., CK, C., KS, L., RJ, L., PJ, L., K, R., JA, D., MS, H., GM, M., WB, D., SF, B., IE, S., JW, T., & HC, M. (2020). Pathogenic Variants in CEP85L Cause Sporadic and Familial Posterior Predominant Lissencephaly.. Neuron. https://doi.org/10.1016/j.neuron.2020.01.027

Source records

pubmed · retrieved 2026-09-26T22:31:53.136Z
europe-pmc · retrieved 2026-09-26T22:31:53.150Z