Research output per year
Research output per year
Personal profile
Expertise related to UN Sustainable Development Goals
In 2015, UN member states agreed to 17 global Sustainable Development Goals (SDGs) to end poverty, protect the planet and ensure prosperity for all. This person’s work contributes towards the following SDG(s):
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SDG 3 Good Health and Well-being
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Collaborations and top research areas from the last five years
Recent external collaboration on country/territory level. Dive into details by clicking on the dots or
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A comprehensive framework for the interpretation of TTN missense variants
T. T. N. study group, Dec 2026, In: Genome medicine. 18, 1, 32.Research output: Contribution to journal › Article › peer-review
Open Access1 Citation (Scopus) -
Location-Dependent Differences in Cardiac and Skeletal Muscle Dysfunction Associated With Truncating Titin (ttn.2) Variants
Santiago, C. F., Huttner, I. G., O'Brien, A. K., Amerudin, M. A. B., Bennett, P. M., Cvetkovska, J., Chand, R., Holt, M., Trivedi, G., Wang, L. W., Yang, X., Smith, K. A., Gautel, M., Fatkin, D. & Hinits, Y., 30 Jan 2026, In: Circulation Research. 138, 3, p. 1-18 18 p., e325999.Research output: Contribution to journal › Article › peer-review
Open AccessFile145 Downloads (Pure) -
Desmin disorganisation: A key feature in feline hypertrophic cardiomyopathy
Cheng, W. C., Lawson, C., Wilkie, L., Dobromylsky, M., Fuentes, V. L., Holt, M. R., Ehler, E. & Connolly, D. J., 14 Jul 2025, In: PLoS ONE. 20, 7, 21 p., e0327850.Research output: Contribution to journal › Article › peer-review
Open AccessFile1 Citation (Scopus)3 Downloads (Pure) -
Sos1 ablation alters focal adhesion dynamics and increases Mmp2/9-dependent gelatinase activity in primary mouse embryonic fibroblasts
Liceras-Boillos, P., Garcia-Navas, R., Llorente-González, C., Lorenzo-Martin, L. F., Luna-Ramírez, L., Fuentes-Mateos, R., Calzada, N., Vega, F. M., Holt, M. R., Ridley, A. J., Bustelo, X. R., Vicente-Manzanares, M., Santos, E. & Baltanás, F. C., 3 Mar 2025, (E-pub ahead of print) In: Cell Communication and Signaling. 23, 1, 116.Research output: Contribution to journal › Article › peer-review
Open AccessFile36 Downloads (Pure) -
Missense mutations in the central domains of cardiac myosin binding protein-C and their potential contribution to hypertrophic cardiomyopathy
Pearce, A., Ponnam, S., Holt, M. R., Randall, T., Beckingham, R., Kho, A. L., Kampourakis, T. & Ehler, E., Jan 2024, In: Journal of Biological Chemistry. 300, 1, 105511.Research output: Contribution to journal › Article › peer-review
Open Access6 Citations (Scopus)
Datasets
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Additional file 3 of A comprehensive framework for the interpretation of TTN missense variants
Di Feo, M. F., Rees, M., Lillback, V., Kho, A. L., Meybatova, A., Holt, M., Jungbluth, H., Muntoni, F., Baranello, G., Sarkozy, A., Fiorillo, C., Baratto, S., Bruno, C., Traverso, M., Iacomino, M., Pedemonte, M., Brolatti, N., Faravelli, F., Zara, F., Mandarà, G. M. L., Beggs, A. H., Genetti, C. A., Barraza-Flores, P., Rodolico, C., Messina, S., Schnabel, F., Balogh, I., Szakszon, K., Sarv, S., Õunap, K., Ricci, F. S., Mussa, A., Malfatti, E., Bertini, E. S., D’Amico, A., Diodato, D., Catteruccia, M., Ravenscroft, G., Johari, M., Kurbatov, S. A., Chausova, P., Murtazina, A., Kuchina, A., Shchagina, O., Drakos, M., Spilioti, M., Evangeliou, A. E., Zaganas, I., Zhong, H., Luo, S., Merlini, L., Nguyen, C.-T.-E., Tasca, G., Reeves, T., Mörner, S., Danielsson, O., Udd, B., Gautel, M. & Savarese, M., figshare, 26 Feb 2026
DOI: 10.6084/m9.figshare.31840484
Dataset
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Additional file 1 of A comprehensive framework for the interpretation of TTN missense variants
Di Feo, M. F., Rees, M., Lillback, V., Kho, A. L., Meybatova, A., Holt, M., Jungbluth, H., Muntoni, F., Baranello, G., Sarkozy, A., Fiorillo, C., Baratto, S., Bruno, C., Traverso, M., Iacomino, M., Pedemonte, M., Brolatti, N., Faravelli, F., Zara, F., Mandarà, G. M. L., Beggs, A. H., Genetti, C. A., Barraza-Flores, P., Rodolico, C., Messina, S., Schnabel, F., Balogh, I., Szakszon, K., Sarv, S., Õunap, K., Ricci, F. S., Mussa, A., Malfatti, E., Bertini, E. S., D’Amico, A., Diodato, D., Catteruccia, M., Ravenscroft, G., Johari, M., Kurbatov, S. A., Chausova, P., Murtazina, A., Kuchina, A., Shchagina, O., Drakos, M., Spilioti, M., Evangeliou, A. E., Zaganas, I., Zhong, H., Luo, S., Merlini, L., Nguyen, C.-T.-E., Tasca, G., Reeves, T., Mörner, S., Danielsson, O., Udd, B., Gautel, M. & Savarese, M., figshare, 26 Feb 2026
DOI: 10.6084/m9.figshare.31840472
Dataset
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Additional file 4 of A comprehensive framework for the interpretation of TTN missense variants
Di Feo, M. F., Rees, M., Lillback, V., Kho, A. L., Meybatova, A., Holt, M., Jungbluth, H., Muntoni, F., Baranello, G., Sarkozy, A., Fiorillo, C., Baratto, S., Bruno, C., Traverso, M., Iacomino, M., Pedemonte, M., Brolatti, N., Faravelli, F., Zara, F., Mandarà, G. M. L., Beggs, A. H., Genetti, C. A., Barraza-Flores, P., Rodolico, C., Messina, S., Schnabel, F., Balogh, I., Szakszon, K., Sarv, S., Õunap, K., Ricci, F. S., Mussa, A., Malfatti, E., Bertini, E. S., D’Amico, A., Diodato, D., Catteruccia, M., Ravenscroft, G., Johari, M., Kurbatov, S. A., Chausova, P., Murtazina, A., Kuchina, A., Shchagina, O., Drakos, M., Spilioti, M., Evangeliou, A. E., Zaganas, I., Zhong, H., Luo, S., Merlini, L., Nguyen, C.-T.-E., Tasca, G., Reeves, T., Mörner, S., Danielsson, O., Udd, B., Gautel, M. & Savarese, M., figshare, 26 Feb 2026
DOI: 10.6084/m9.figshare.31840487
Dataset