Recurrent de novo variants in the spliceosomal factor CRNKL1 are associated with severe microcephaly and pontocerebellar hypoplasia with seizures.

Ray Das S, Sullivan R, Ruegg MSG, Horsfield J, Doran J, Poke G, de Vries N, Duerinckx S, Lederer D, Haniffa M, Keng WT, Ch'ng GS, Parry DA, Jackson AP, Sakamoto M, Matsumoto N, Miyake N, Nabatame S, Taniguchi H, Wakeling E, Deciphering Developmental Disorders Study, Õunap K, Ilves P, Mirzaa G, Timms A, Pao E, Aldinger KA, Dobyns W, Bohring A, Behre B, Calame DG, Lupski JR, Pascual JM, Abramowicz M, Gimenez G, Bicknell LS

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DOI: 10.1016/j.ajhg.2025.05.013
Published: 2025 Jul 3
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.2025.05.013,
  title = {Recurrent de novo variants in the spliceosomal factor CRNKL1 are associated with severe microcephaly and pontocerebellar hypoplasia with seizures.},
  author = {Ray Das S and Sullivan R and Ruegg MSG and Horsfield J and Doran J and Poke G and de Vries N and Duerinckx S and Lederer D and Haniffa M and Keng WT and Ch'ng GS and Parry DA and Jackson AP and Sakamoto M and Matsumoto N and Miyake N and Nabatame S and Taniguchi H and Wakeling E and Deciphering Developmental Disorders Study and Õunap K and Ilves P and Mirzaa G and Timms A and Pao E and Aldinger KA and Dobyns W and Bohring A and Behre B and Calame DG and Lupski JR and Pascual JM and Abramowicz M and Gimenez G and Bicknell LS},
  year = {2025},
  journal = {American journal of human genetics},
  doi = {10.1016/j.ajhg.2025.05.013},
  url = {https://doi.org/10.1016/j.ajhg.2025.05.013}
}

RIS

TY  - JOUR
TI  - Recurrent de novo variants in the spliceosomal factor CRNKL1 are associated with severe microcephaly and pontocerebellar hypoplasia with seizures.
AU  - Ray Das S
AU  - Sullivan R
AU  - Ruegg MSG
AU  - Horsfield J
AU  - Doran J
AU  - Poke G
AU  - de Vries N
AU  - Duerinckx S
AU  - Lederer D
AU  - Haniffa M
AU  - Keng WT
AU  - Ch'ng GS
AU  - Parry DA
AU  - Jackson AP
AU  - Sakamoto M
AU  - Matsumoto N
AU  - Miyake N
AU  - Nabatame S
AU  - Taniguchi H
AU  - Wakeling E
AU  - Deciphering Developmental Disorders Study
AU  - Õunap K
AU  - Ilves P
AU  - Mirzaa G
AU  - Timms A
AU  - Pao E
AU  - Aldinger KA
AU  - Dobyns W
AU  - Bohring A
AU  - Behre B
AU  - Calame DG
AU  - Lupski JR
AU  - Pascual JM
AU  - Abramowicz M
AU  - Gimenez G
AU  - Bicknell LS
PY  - 2025
JO  - American journal of human genetics
DO  - 10.1016/j.ajhg.2025.05.013
UR  - https://doi.org/10.1016/j.ajhg.2025.05.013
ER  -

APA

S, R. D., R, S., MSG, R., J, H., J, D., G, P., N, D. V., S, D., D, L., M, H., WT, K., GS, C., DA, P., AP, J., M, S., N, M., N, M., S, N., H, T., E, W., Study, D. D. D., K, Õ., P, I., G, M., A, T., E, P., KA, A., W, D., A, B., B, B., DG, C., JR, L., JM, P., M, A., G, G., & LS, B. (2025). Recurrent de novo variants in the spliceosomal factor CRNKL1 are associated with severe microcephaly and pontocerebellar hypoplasia with seizures.. American journal of human genetics. https://doi.org/10.1016/j.ajhg.2025.05.013

Source records

pubmed · retrieved 2026-09-26T22:44:51.222Z
europe-pmc · retrieved 2026-09-26T22:44:51.222Z