Clustered mutations in the GRIK2 kainate receptor subunit gene underlie diverse neurodevelopmental disorders.

Stolz JR, Foote KM, Veenstra-Knol HE, Pfundt R, Ten Broeke SW, de Leeuw N, Roht L, Pajusalu S, Part R, Rebane I, Õunap K, Stark Z, Kirk EP, Lawson JA, Lunke S, Christodoulou J, Louie RJ, Rogers RC, Davis JM, Innes AM, Wei XC, Keren B, Mignot C, Lebel RR, Sperber SM, Sakonju A, Dosa N, Barge-Schaapveld DQCM, Peeters-Scholte CMPCD, Ruivenkamp CAL, van Bon BW, Kennedy J, Low KJ, Ellard S, Pang L, Junewick JJ, Mark PR, Carvill GL, Swanson GT

Open source

DOI: 10.1016/j.ajhg.2021.07.007
Published: 2021 Sep 2
Container: American journal of human genetics
Publisher: Not recorded
Open access: yes

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Cite this work

BibTeX

@article{allodium:10.1016/j.ajhg.2021.07.007,
  title = {Clustered mutations in the GRIK2 kainate receptor subunit gene underlie diverse neurodevelopmental disorders.},
  author = {Stolz JR and Foote KM and Veenstra-Knol HE and Pfundt R and Ten Broeke SW and de Leeuw N and Roht L and Pajusalu S and Part R and Rebane I and Õunap K and Stark Z and Kirk EP and Lawson JA and Lunke S and Christodoulou J and Louie RJ and Rogers RC and Davis JM and Innes AM and Wei XC and Keren B and Mignot C and Lebel RR and Sperber SM and Sakonju A and Dosa N and Barge-Schaapveld DQCM and Peeters-Scholte CMPCD and Ruivenkamp CAL and van Bon BW and Kennedy J and Low KJ and Ellard S and Pang L and Junewick JJ and Mark PR and Carvill GL and Swanson GT},
  year = {2021},
  journal = {American journal of human genetics},
  doi = {10.1016/j.ajhg.2021.07.007},
  url = {https://doi.org/10.1016/j.ajhg.2021.07.007}
}

RIS

TY  - JOUR
TI  - Clustered mutations in the GRIK2 kainate receptor subunit gene underlie diverse neurodevelopmental disorders.
AU  - Stolz JR
AU  - Foote KM
AU  - Veenstra-Knol HE
AU  - Pfundt R
AU  - Ten Broeke SW
AU  - de Leeuw N
AU  - Roht L
AU  - Pajusalu S
AU  - Part R
AU  - Rebane I
AU  - Õunap K
AU  - Stark Z
AU  - Kirk EP
AU  - Lawson JA
AU  - Lunke S
AU  - Christodoulou J
AU  - Louie RJ
AU  - Rogers RC
AU  - Davis JM
AU  - Innes AM
AU  - Wei XC
AU  - Keren B
AU  - Mignot C
AU  - Lebel RR
AU  - Sperber SM
AU  - Sakonju A
AU  - Dosa N
AU  - Barge-Schaapveld DQCM
AU  - Peeters-Scholte CMPCD
AU  - Ruivenkamp CAL
AU  - van Bon BW
AU  - Kennedy J
AU  - Low KJ
AU  - Ellard S
AU  - Pang L
AU  - Junewick JJ
AU  - Mark PR
AU  - Carvill GL
AU  - Swanson GT
PY  - 2021
JO  - American journal of human genetics
DO  - 10.1016/j.ajhg.2021.07.007
UR  - https://doi.org/10.1016/j.ajhg.2021.07.007
ER  -

APA

JR, S., KM, F., HE, V., R, P., SW, T. B., N, D. L., L, R., S, P., R, P., I, R., K, Õ., Z, S., EP, K., JA, L., S, L., J, C., RJ, L., RC, R., JM, D., AM, I., XC, W., B, K., C, M., RR, L., SM, S., A, S., N, D., DQCM, B., CMPCD, P., CAL, R., BW, V. B., J, K., KJ, L., S, E., L, P., JJ, J., PR, M., GL, C., & GT, S. (2021). Clustered mutations in the GRIK2 kainate receptor subunit gene underlie diverse neurodevelopmental disorders.. American journal of human genetics. https://doi.org/10.1016/j.ajhg.2021.07.007

Source records

pubmed · retrieved 2026-09-26T15:43:02.919Z