Molecular genotype-phenotype correlation in ACTB- and ACTG1-related non-muscle actinopathies.

Di Donato N, NMA Consortium, Thom A, Rump A, Greve JN, Cadiñanos J, Calabrò RS, Cathey S, Chung B, Cope H, Costales M, Cuvertino S, Dinkel P, Erripi K, Fry AE, Garavelli L, Hoffjan S, Janzarik WG, Kreimer I, Mancini G, Marin-Reina P, Meinhardt A, Niehaus I, Pilz D, Ricca I, Simarro FS, Schrock E, Marquardt A, Taft MH, Tezcan K, Thunström S, Verhagen J, Verloes A, Wollnik B, Krawitz P, Hsieh TC, Seifert M, Heide M, Lawrence CB, Roberts NA, Manstein DJ, Woolf AS, Banka S

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DOI: 10.1016/j.ajhg.2025.12.007
Published: 2026 Feb 5
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.2025.12.007,
  title = {Molecular genotype-phenotype correlation in ACTB- and ACTG1-related non-muscle actinopathies.},
  author = {Di Donato N and NMA Consortium and Thom A and Rump A and Greve JN and Cadiñanos J and Calabrò RS and Cathey S and Chung B and Cope H and Costales M and Cuvertino S and Dinkel P and Erripi K and Fry AE and Garavelli L and Hoffjan S and Janzarik WG and Kreimer I and Mancini G and Marin-Reina P and Meinhardt A and Niehaus I and Pilz D and Ricca I and Simarro FS and Schrock E and Marquardt A and Taft MH and Tezcan K and Thunström S and Verhagen J and Verloes A and Wollnik B and Krawitz P and Hsieh TC and Seifert M and Heide M and Lawrence CB and Roberts NA and Manstein DJ and Woolf AS and Banka S},
  year = {2026},
  journal = {American journal of human genetics},
  doi = {10.1016/j.ajhg.2025.12.007},
  url = {https://doi.org/10.1016/j.ajhg.2025.12.007}
}

RIS

TY  - JOUR
TI  - Molecular genotype-phenotype correlation in ACTB- and ACTG1-related non-muscle actinopathies.
AU  - Di Donato N
AU  - NMA Consortium
AU  - Thom A
AU  - Rump A
AU  - Greve JN
AU  - Cadiñanos J
AU  - Calabrò RS
AU  - Cathey S
AU  - Chung B
AU  - Cope H
AU  - Costales M
AU  - Cuvertino S
AU  - Dinkel P
AU  - Erripi K
AU  - Fry AE
AU  - Garavelli L
AU  - Hoffjan S
AU  - Janzarik WG
AU  - Kreimer I
AU  - Mancini G
AU  - Marin-Reina P
AU  - Meinhardt A
AU  - Niehaus I
AU  - Pilz D
AU  - Ricca I
AU  - Simarro FS
AU  - Schrock E
AU  - Marquardt A
AU  - Taft MH
AU  - Tezcan K
AU  - Thunström S
AU  - Verhagen J
AU  - Verloes A
AU  - Wollnik B
AU  - Krawitz P
AU  - Hsieh TC
AU  - Seifert M
AU  - Heide M
AU  - Lawrence CB
AU  - Roberts NA
AU  - Manstein DJ
AU  - Woolf AS
AU  - Banka S
PY  - 2026
JO  - American journal of human genetics
DO  - 10.1016/j.ajhg.2025.12.007
UR  - https://doi.org/10.1016/j.ajhg.2025.12.007
ER  -

APA

N, D. D., Consortium, N., A, T., A, R., JN, G., J, C., RS, C., S, C., B, C., H, C., M, C., S, C., P, D., K, E., AE, F., L, G., S, H., WG, J., I, K., G, M., P, M., A, M., I, N., D, P., I, R., FS, S., E, S., A, M., MH, T., K, T., S, T., J, V., A, V., B, W., P, K., TC, H., M, S., M, H., CB, L., NA, R., DJ, M., AS, W., & S, B. (2026). Molecular genotype-phenotype correlation in ACTB- and ACTG1-related non-muscle actinopathies.. American journal of human genetics. https://doi.org/10.1016/j.ajhg.2025.12.007

Source records

pubmed · retrieved 2026-09-26T15:43:13.830Z