RORA-neurodevelopmental disorder: A unique triad of developmental disabilities, cerebellar anomalies, and myoclonic seizures.

Talarico M, de Bellescize J, De Wachter M, Le Guillou X, Le Meur G, Egloff M, Isidor B, Cogné B, Beysen D, Rollier P, Fradin M, Pasquier L, Guella I, Hickey SE, Benke PJ, Shillington A, Kumps C, Vanakker O, Gerkes EH, Lakhani S, Romanova I, Kanivets I, Brugger M, Vill K, Caylor RC, Skinner C, Tinker RJ, Stödberg T, Nümann A, Haack TB, Deininger N, Hengel H, Jury J, Conrad S, Mercier S, Yoon G, Tsuboyama M, Barcia G, Gitiaux C, Rio M, Bevot A, Redon S, Uguen K, Wonneberger A, Schulz A, Timmann D, Karlowicz DH, Chatron N, Carnevale A, Mahida S, Õunap K, Kury S, Cabet S, Lesca G

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DOI
10.1016/j.gim.2024.101347
Published
2025 Apr
Container
Genetics in medicine : official journal of the American College of Medical Genetics
Publisher
Not recorded
Open access
unknown

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BibTeX

@article{allodium:10.1016/j.gim.2024.101347,
  title = {RORA-neurodevelopmental disorder: A unique triad of developmental disabilities, cerebellar anomalies, and myoclonic seizures.},
  author = {Talarico M and de Bellescize J and De Wachter M and Le Guillou X and Le Meur G and Egloff M and Isidor B and Cogné B and Beysen D and Rollier P and Fradin M and Pasquier L and Guella I and Hickey SE and Benke PJ and Shillington A and Kumps C and Vanakker O and Gerkes EH and Lakhani S and Romanova I and Kanivets I and Brugger M and Vill K and Caylor RC and Skinner C and Tinker RJ and Stödberg T and Nümann A and Haack TB and Deininger N and Hengel H and Jury J and Conrad S and Mercier S and Yoon G and Tsuboyama M and Barcia G and Gitiaux C and Rio M and Bevot A and Redon S and Uguen K and Wonneberger A and Schulz A and Timmann D and Karlowicz DH and Chatron N and Carnevale A and Mahida S and Õunap K and Kury S and Cabet S and Lesca G},
  year = {2025},
  journal = {Genetics in medicine : official journal of the American College of Medical Genetics},
  doi = {10.1016/j.gim.2024.101347},
  url = {https://doi.org/10.1016/j.gim.2024.101347}
}

RIS

TY  - JOUR
TI  - RORA-neurodevelopmental disorder: A unique triad of developmental disabilities, cerebellar anomalies, and myoclonic seizures.
AU  - Talarico M
AU  - de Bellescize J
AU  - De Wachter M
AU  - Le Guillou X
AU  - Le Meur G
AU  - Egloff M
AU  - Isidor B
AU  - Cogné B
AU  - Beysen D
AU  - Rollier P
AU  - Fradin M
AU  - Pasquier L
AU  - Guella I
AU  - Hickey SE
AU  - Benke PJ
AU  - Shillington A
AU  - Kumps C
AU  - Vanakker O
AU  - Gerkes EH
AU  - Lakhani S
AU  - Romanova I
AU  - Kanivets I
AU  - Brugger M
AU  - Vill K
AU  - Caylor RC
AU  - Skinner C
AU  - Tinker RJ
AU  - Stödberg T
AU  - Nümann A
AU  - Haack TB
AU  - Deininger N
AU  - Hengel H
AU  - Jury J
AU  - Conrad S
AU  - Mercier S
AU  - Yoon G
AU  - Tsuboyama M
AU  - Barcia G
AU  - Gitiaux C
AU  - Rio M
AU  - Bevot A
AU  - Redon S
AU  - Uguen K
AU  - Wonneberger A
AU  - Schulz A
AU  - Timmann D
AU  - Karlowicz DH
AU  - Chatron N
AU  - Carnevale A
AU  - Mahida S
AU  - Õunap K
AU  - Kury S
AU  - Cabet S
AU  - Lesca G
PY  - 2025
JO  - Genetics in medicine : official journal of the American College of Medical Genetics
DO  - 10.1016/j.gim.2024.101347
UR  - https://doi.org/10.1016/j.gim.2024.101347
ER  -

APA

M, T., J, D. B., M, D. W., X, L. G., G, L. M., M, E., B, I., B, C., D, B., P, R., M, F., L, P., I, G., SE, H., PJ, B., A, S., C, K., O, V., EH, G., S, L., I, R., I, K., M, B., K, V., RC, C., C, S., RJ, T., T, S., A, N., TB, H., N, D., H, H., J, J., S, C., S, M., G, Y., M, T., G, B., C, G., M, R., A, B., S, R., K, U., A, W., A, S., D, T., DH, K., N, C., A, C., S, M., K, Õ., S, K., S, C., & G, L. (2025). RORA-neurodevelopmental disorder: A unique triad of developmental disabilities, cerebellar anomalies, and myoclonic seizures.. Genetics in medicine : official journal of the American College of Medical Genetics. https://doi.org/10.1016/j.gim.2024.101347

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