An autosomal-dominant childhood-onset disorder associated with pathogenic variants in VCP.

Mah-Som AY, Daw J, Huynh D, Wu M, Creekmore BC, Burns W, Skinner SA, Holla ØL, Smeland MF, Planes M, Uguen K, Redon S, Bierhals T, Scholz T, Denecke J, Mensah MA, Sczakiel HL, Tichy H, Verheyen S, Blatterer J, Schreiner E, Thies J, Lam C, Spaeth CG, Pena L, Ramsey K, Narayanan V, Seaver LH, Rodriguez D, Afenjar A, Burglen L, Lee EB, Chou TF, Weihl CC, Shinawi MS

Open source

DOI: 10.1016/j.ajhg.2023.10.007
Published: 2023 Nov 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.2023.10.007,
  title = {An autosomal-dominant childhood-onset disorder associated with pathogenic variants in VCP.},
  author = {Mah-Som AY and Daw J and Huynh D and Wu M and Creekmore BC and Burns W and Skinner SA and Holla ØL and Smeland MF and Planes M and Uguen K and Redon S and Bierhals T and Scholz T and Denecke J and Mensah MA and Sczakiel HL and Tichy H and Verheyen S and Blatterer J and Schreiner E and Thies J and Lam C and Spaeth CG and Pena L and Ramsey K and Narayanan V and Seaver LH and Rodriguez D and Afenjar A and Burglen L and Lee EB and Chou TF and Weihl CC and Shinawi MS},
  year = {2023},
  journal = {American journal of human genetics},
  doi = {10.1016/j.ajhg.2023.10.007},
  url = {https://doi.org/10.1016/j.ajhg.2023.10.007}
}

RIS

TY  - JOUR
TI  - An autosomal-dominant childhood-onset disorder associated with pathogenic variants in VCP.
AU  - Mah-Som AY
AU  - Daw J
AU  - Huynh D
AU  - Wu M
AU  - Creekmore BC
AU  - Burns W
AU  - Skinner SA
AU  - Holla ØL
AU  - Smeland MF
AU  - Planes M
AU  - Uguen K
AU  - Redon S
AU  - Bierhals T
AU  - Scholz T
AU  - Denecke J
AU  - Mensah MA
AU  - Sczakiel HL
AU  - Tichy H
AU  - Verheyen S
AU  - Blatterer J
AU  - Schreiner E
AU  - Thies J
AU  - Lam C
AU  - Spaeth CG
AU  - Pena L
AU  - Ramsey K
AU  - Narayanan V
AU  - Seaver LH
AU  - Rodriguez D
AU  - Afenjar A
AU  - Burglen L
AU  - Lee EB
AU  - Chou TF
AU  - Weihl CC
AU  - Shinawi MS
PY  - 2023
JO  - American journal of human genetics
DO  - 10.1016/j.ajhg.2023.10.007
UR  - https://doi.org/10.1016/j.ajhg.2023.10.007
ER  -

APA

AY, M., J, D., D, H., M, W., BC, C., W, B., SA, S., ØL, H., MF, S., M, P., K, U., S, R., T, B., T, S., J, D., MA, M., HL, S., H, T., S, V., J, B., E, S., J, T., C, L., CG, S., L, P., K, R., V, N., LH, S., D, R., A, A., L, B., EB, L., TF, C., CC, W., & MS, S. (2023). An autosomal-dominant childhood-onset disorder associated with pathogenic variants in VCP.. American journal of human genetics. https://doi.org/10.1016/j.ajhg.2023.10.007

Source records

pubmed · retrieved 2026-09-25T22:23:46.138Z