De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis

BibTeX

@article{allodium:10.1016/j.ajhg.2021.01.008,
  title = {De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis},
  author = {Patricia L. Weng and Amar J. Majmundar and Kamal Khan and Tze Y. Lim and Shirlee Shril and Gina Jin and John Musgrove and Minxian Wang and Dina F. Ahram and Vimla S. Aggarwal and Louise E. Bier and Erin L. Heinzen and Ana C. Onuchic-Whitford and Nina Mann and Florian Buerger and Ronen Schneider and Konstantin Deutsch and Thomas M. Kitzler and Verena Klämbt and Amy Kolb and Youying Mao and Christelle Moufawad El Achkar and Adele Mitrotti and Jeremiah Martino and Bodo B. Beck and Janine Altmüller and Marcus R. Benz and Shoji Yano and Mohamad A. Mikati and Talha Gunduz and Heidi Cope and Vandana Shashi and Howard Trachtman and Monica Bodria and Gianluca Caridi and Isabella Pisani and Enrico Fiaccadori and Asmaa S. AbuMaziad and Julian A. Martinez-Agosto and Ora Yadin and Jonathan Zuckerman and Arang Kim and Ulrike John-Kroegel and Amanda V. Tyndall and Jillian S. Parboosingh and A. Micheil Innes and Agnieszka Bierzynska and Ania B. Koziell and Mordi Muorah and Moin A. Saleem and Julia Hoefele and Korbinian M. Riedhammer and Ali G. Gharavi and Vaidehi Jobanputra and Emma Pierce-Hoffman and Eleanor G. Seaby and Anne O’Donnell-Luria and Heidi L. Rehm and Shrikant Mane and Vivette D. D’Agati and Martin R. Pollak and Gian Marco Ghiggeri and Richard P. Lifton and David B. Goldstein and Erica E. Davis and Friedhelm Hildebrandt and Simone Sanna-Cherchi},
  year = {2021},
  journal = {The American Journal of Human Genetics},
  doi = {10.1016/j.ajhg.2021.01.008},
  url = {https://doi.org/10.1016/j.ajhg.2021.01.008}
}

RIS

TY  - JOUR
TI  - De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis
AU  - Patricia L. Weng
AU  - Amar J. Majmundar
AU  - Kamal Khan
AU  - Tze Y. Lim
AU  - Shirlee Shril
AU  - Gina Jin
AU  - John Musgrove
AU  - Minxian Wang
AU  - Dina F. Ahram
AU  - Vimla S. Aggarwal
AU  - Louise E. Bier
AU  - Erin L. Heinzen
AU  - Ana C. Onuchic-Whitford
AU  - Nina Mann
AU  - Florian Buerger
AU  - Ronen Schneider
AU  - Konstantin Deutsch
AU  - Thomas M. Kitzler
AU  - Verena Klämbt
AU  - Amy Kolb
AU  - Youying Mao
AU  - Christelle Moufawad El Achkar
AU  - Adele Mitrotti
AU  - Jeremiah Martino
AU  - Bodo B. Beck
AU  - Janine Altmüller
AU  - Marcus R. Benz
AU  - Shoji Yano
AU  - Mohamad A. Mikati
AU  - Talha Gunduz
AU  - Heidi Cope
AU  - Vandana Shashi
AU  - Howard Trachtman
AU  - Monica Bodria
AU  - Gianluca Caridi
AU  - Isabella Pisani
AU  - Enrico Fiaccadori
AU  - Asmaa S. AbuMaziad
AU  - Julian A. Martinez-Agosto
AU  - Ora Yadin
AU  - Jonathan Zuckerman
AU  - Arang Kim
AU  - Ulrike John-Kroegel
AU  - Amanda V. Tyndall
AU  - Jillian S. Parboosingh
AU  - A. Micheil Innes
AU  - Agnieszka Bierzynska
AU  - Ania B. Koziell
AU  - Mordi Muorah
AU  - Moin A. Saleem
AU  - Julia Hoefele
AU  - Korbinian M. Riedhammer
AU  - Ali G. Gharavi
AU  - Vaidehi Jobanputra
AU  - Emma Pierce-Hoffman
AU  - Eleanor G. Seaby
AU  - Anne O’Donnell-Luria
AU  - Heidi L. Rehm
AU  - Shrikant Mane
AU  - Vivette D. D’Agati
AU  - Martin R. Pollak
AU  - Gian Marco Ghiggeri
AU  - Richard P. Lifton
AU  - David B. Goldstein
AU  - Erica E. Davis
AU  - Friedhelm Hildebrandt
AU  - Simone Sanna-Cherchi
PY  - 2021
JO  - The American Journal of Human Genetics
DO  - 10.1016/j.ajhg.2021.01.008
UR  - https://doi.org/10.1016/j.ajhg.2021.01.008
ER  - 

APA

Weng, P. L., Majmundar, A. J., Khan, K., Lim, T. Y., Shril, S., Jin, G., Musgrove, J., Wang, M., Ahram, D. F., Aggarwal, V. S., Bier, L. E., Heinzen, E. L., Onuchic-Whitford, A. C., Mann, N., Buerger, F., Schneider, R., Deutsch, K., Kitzler, T. M., Klämbt, V., Kolb, A., Mao, Y., Achkar, C. M. E., Mitrotti, A., Martino, J., Beck, B. B., Altmüller, J., Benz, M. R., Yano, S., Mikati, M. A., Gunduz, T., Cope, H., Shashi, V., Trachtman, H., Bodria, M., Caridi, G., Pisani, I., Fiaccadori, E., AbuMaziad, A. S., Martinez-Agosto, J. A., Yadin, O., Zuckerman, J., Kim, A., John-Kroegel, U., Tyndall, A. V., Parboosingh, J. S., Innes, A. M., Bierzynska, A., Koziell, A. B., Muorah, M., Saleem, M. A., Hoefele, J., Riedhammer, K. M., Gharavi, A. G., Jobanputra, V., Pierce-Hoffman, E., Seaby, E. G., O’Donnell-Luria, A., Rehm, H. L., Mane, S., D’Agati, V. D., Pollak, M. R., Ghiggeri, G. M., Lifton, R. P., Goldstein, D. B., Davis, E. E., Hildebrandt, F., & Sanna-Cherchi, S. (2021). De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis. The American Journal of Human Genetics. https://doi.org/10.1016/j.ajhg.2021.01.008