Expanding the phenotypic spectrum associated with ZIC1 variants: A neurodevelopmental disorder with and without craniosynostosis.

Watts LM, Chang MSM, Lewis-Orr E, Walton IS, Leinhos L, Tooze RS, Pei Y, Calpena E, Vedovato-Dos-Santos JH, Steel D, Reid KM, Kurian MA, Mohammad SS, Cantagrel V, Siquier K, Boddaert N, Rio M, Blyth M, Kraus A, Al Mutairi F, Holder SE, Clowes VE, Cobben JM, Timberlake AT, Elias ER, Stewart H, Johnson D, Cohen JS, Barañano KW, Ceulemans S, Jones MC, Ortega Rico RI, Haug MG, Berland S, Bombei HM, Paulson A, Sidhu A, Gooch CF, da Rocha KM, Passos Bueno MR, Ţopa A, Muslimovic AZ, Maltese G, Tan TY, McCann E, Lord H, Chin HL, Lin J, Li-Meng Goh D, Keren B, Charles P, Delchev T, Avdjieva-Tzavella D, Alawbathani S, Almeida L, Kdissa A, Al-Ali R, Bertoli-Avella AM, Johnson D, Wilkie AOM, Arkell RM, Shears DJ, Twigg SRF

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DOI: 10.1016/j.gim.2026.102585
Published: 2026 Jun
Container: Genetics in medicine : official journal of the American College of Medical Genetics
Publisher: Not recorded
Open access: yes

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Cite this work

BibTeX

@article{allodium:10.1016/j.gim.2026.102585,
  title = {Expanding the phenotypic spectrum associated with ZIC1 variants: A neurodevelopmental disorder with and without craniosynostosis.},
  author = {Watts LM and Chang MSM and Lewis-Orr E and Walton IS and Leinhos L and Tooze RS and Pei Y and Calpena E and Vedovato-Dos-Santos JH and Steel D and Reid KM and Kurian MA and Mohammad SS and Cantagrel V and Siquier K and Boddaert N and Rio M and Blyth M and Kraus A and Al Mutairi F and Holder SE and Clowes VE and Cobben JM and Timberlake AT and Elias ER and Stewart H and Johnson D and Cohen JS and Barañano KW and Ceulemans S and Jones MC and Ortega Rico RI and Haug MG and Berland S and Bombei HM and Paulson A and Sidhu A and Gooch CF and da Rocha KM and Passos Bueno MR and Ţopa A and Muslimovic AZ and Maltese G and Tan TY and McCann E and Lord H and Chin HL and Lin J and Li-Meng Goh D and Keren B and Charles P and Delchev T and Avdjieva-Tzavella D and Alawbathani S and Almeida L and Kdissa A and Al-Ali R and Bertoli-Avella AM and Johnson D and Wilkie AOM and Arkell RM and Shears DJ and Twigg SRF},
  year = {2026},
  journal = {Genetics in medicine : official journal of the American College of Medical Genetics},
  doi = {10.1016/j.gim.2026.102585},
  url = {https://doi.org/10.1016/j.gim.2026.102585}
}

RIS

TY  - JOUR
TI  - Expanding the phenotypic spectrum associated with ZIC1 variants: A neurodevelopmental disorder with and without craniosynostosis.
AU  - Watts LM
AU  - Chang MSM
AU  - Lewis-Orr E
AU  - Walton IS
AU  - Leinhos L
AU  - Tooze RS
AU  - Pei Y
AU  - Calpena E
AU  - Vedovato-Dos-Santos JH
AU  - Steel D
AU  - Reid KM
AU  - Kurian MA
AU  - Mohammad SS
AU  - Cantagrel V
AU  - Siquier K
AU  - Boddaert N
AU  - Rio M
AU  - Blyth M
AU  - Kraus A
AU  - Al Mutairi F
AU  - Holder SE
AU  - Clowes VE
AU  - Cobben JM
AU  - Timberlake AT
AU  - Elias ER
AU  - Stewart H
AU  - Johnson D
AU  - Cohen JS
AU  - Barañano KW
AU  - Ceulemans S
AU  - Jones MC
AU  - Ortega Rico RI
AU  - Haug MG
AU  - Berland S
AU  - Bombei HM
AU  - Paulson A
AU  - Sidhu A
AU  - Gooch CF
AU  - da Rocha KM
AU  - Passos Bueno MR
AU  - Ţopa A
AU  - Muslimovic AZ
AU  - Maltese G
AU  - Tan TY
AU  - McCann E
AU  - Lord H
AU  - Chin HL
AU  - Lin J
AU  - Li-Meng Goh D
AU  - Keren B
AU  - Charles P
AU  - Delchev T
AU  - Avdjieva-Tzavella D
AU  - Alawbathani S
AU  - Almeida L
AU  - Kdissa A
AU  - Al-Ali R
AU  - Bertoli-Avella AM
AU  - Johnson D
AU  - Wilkie AOM
AU  - Arkell RM
AU  - Shears DJ
AU  - Twigg SRF
PY  - 2026
JO  - Genetics in medicine : official journal of the American College of Medical Genetics
DO  - 10.1016/j.gim.2026.102585
UR  - https://doi.org/10.1016/j.gim.2026.102585
ER  -

APA

LM, W., MSM, C., E, L., IS, W., L, L., RS, T., Y, P., E, C., JH, V., D, S., KM, R., MA, K., SS, M., V, C., K, S., N, B., M, R., M, B., A, K., F, A. M., SE, H., VE, C., JM, C., AT, T., ER, E., H, S., D, J., JS, C., KW, B., S, C., MC, J., RI, O. R., MG, H., S, B., HM, B., A, P., A, S., CF, G., KM, D. R., MR, P. B., A, Ţ., AZ, M., G, M., TY, T., E, M., H, L., HL, C., J, L., D, L. G., B, K., P, C., T, D., D, A., S, A., L, A., A, K., R, A., AM, B., D, J., AOM, W., RM, A., DJ, S., & SRF, T. (2026). Expanding the phenotypic spectrum associated with ZIC1 variants: A neurodevelopmental disorder with and without craniosynostosis.. Genetics in medicine : official journal of the American College of Medical Genetics. https://doi.org/10.1016/j.gim.2026.102585

Source records

pubmed · retrieved 2026-09-26T05:20:17.677Z