Novel genomic approaches to identify the missing genetics underlying skeletal muscle disease

Project: Research

Status	Finished
Effective start/end date	1/01/21 → 31/12/23

Pathogenic TNNI1 variants disrupt sarcomere contractility resulting in hypo- and hypercontractile muscle disease
Donkervoort, S., van de Locht, M., Ronchi, D., Reunert, J., McLean, C. A., Zaki, M., Orbach, R., de Winter, J. M., Conijn, S., Hoomoedt, D., Neto, O. L. A., Magri, F., Viaene, A. N., Foley, A. R., Gorokhova, S., Bolduc, V., Hu, Y., Acquaye, N., Napoli, L. & Park, J. H. & 24 others, Immadisetty, K., Miles, L. B., Essawi, M., McModie, S., Ferreira, L. F., Zanotti, S., Neuhaus, S. B., Medne, L., ElBagoury, N., Johnson, K. R., Zhang, Y., Laing, N. G., Davis, M. R., Bryson-Richardson, R. J., Hwee, D. T., Hartman, J. J., Malik, F. I., Kekenes-Huskey, P. M., Comi, G. P., Sharaf-Eldin, W., Marquardt, T., Ravenscroft, G., Bönnemann, C. G. & Ottenheijm, C. A. C., 3 Apr 2024, In: Science Translational Medicine. 16, 741, 13 p., eadg2841.
Research output: Contribution to journal › Article › Research › peer-review

10 Link opens in a new tab Citations (Scopus)
Transcriptome and Genome Analysis Uncovers a DMD Structural Variant
Folland, C., Ganesh, V., Weisburd, B., McLean, C., Kornberg, A. J., O’Donnell-Luria, A., Rehm, H. L., Stevanovski, I., Chintalaphani, S. R., Kennedy, P., Deveson, I. W. & Ravenscroft, G., 14 Mar 2023, In: Neurology: Genetics. 9, 2, 6 p., e200064.
Research output: Contribution to journal › Article › Research › peer-review

Open Access

8 Link opens in a new tab Citations (Scopus)

Project Details