Reduced ech-6 expression attenuates fat-induced lifespan shortening in C. elegans

por Liu, Yasmine J., Gao, Arwen W., Smith, Reuben L., Janssens, Georges E., Panneman, Daan M., Jongejan, Aldo, van Weeghel, Michel, Vaz, Frédéric M., Silvestrini, Melissa J., Lapierre, Louis R., MacInnes, Alyson W., Houtkooper, Riekelt H.
Publicado 2022

Effective smMIPs-Based Sequencing of Maculopathy-Associated Genes in Stargardt Disease Cases and Allied Maculopathies from the UK

por Mc Clinton, Benjamin, Corradi, Zelia, McKibbin, Martin, Panneman, Daan M., Roosing, Susanne, Boonen, Erica G. M., Ali, Manir, Watson, Christopher M., Steel, David H., Cremers, Frans P. M., Inglehearn, Chris F., Hitti-Malin, Rebekkah J., Toomes, Carmel
Publicado 2023

Using single molecule Molecular Inversion Probes as a cost‐effective, high‐throughput sequencing approach to target all genes and loci associated with macular diseases

por Hitti‐Malin, Rebekkah J., Dhaenens, Claire‐Marie, Panneman, Daan M., Corradi, Zelia, Khan, Mubeen, den Hollander, Anneke I., Farrar, G. Jane, Gilissen, Christian, Hoischen, Alexander, van de Vorst, Maartje, Bults, Femke, Boonen, Erica G. M., Saunders, Patrick, Roosing, Susanne, Cremers, Frans P. M.
Publicado 2022

In Vitro Skeletal Muscle Model of PGM1 Deficiency Reveals Altered Energy Homeostasis

por Conte, Federica, Ashikov, Angel, Mijdam, Rachel, van de Ven, Eline G. P., van Scherpenzeel, Monique, Veizaj, Raisa, Mahalleh-Yousefi, Seyed P., Post, Merel A., Huijben, Karin, Panneman, Daan M., Rodenburg, Richard J. T., Voermans, Nicol C., Garanto, Alejandro, Koopman, Werner J. H., Wessels, Hans J. C. T., Noga, Marek J., Lefeber, Dirk J.
Publicado 2023

Genetic causes of inherited retinal diseases among Israeli Jews of Ethiopian ancestry

por Ben Yosef, Tamar, Banin, Eyal, Chervinsky, Elana, Shalev, Stavit A., Leibu, Rina, Mezer, Eedy, Rotenstreich, Ygal, Goldenberg-Cohen, Nitza, Weiss, Shirel, Khan, Muhammad Imran, Panneman, Daan M., Hitti-Malin, Rebekkah J., Weiner, Chen, Roosing, Susanne, Cremers, Frans P. M., Pras, Eran, Zur, Dinah, Newman, Hadas, Deitch, Iris, Sharon, Dror, Ehrenberg, Miriam
Publicado 2023

Variants in NGLY1 lead to intellectual disability, myoclonus epilepsy, sensorimotor axonal polyneuropathy and mitochondrial dysfunction

por Panneman, Daan M., Wortmann, Saskia B., Haaxma, Charlotte A., van Hasselt, Peter M., Wolf, Nicole I., Hendriks, Yvonne, Küsters, Benno, van Emst‐de Vries, Sjenet, van de Westerlo, Els, Koopman, Werner J.H., Wintjes, Liesbeth, van den Brandt, Frans, de Vries, Maaike, Lefeber, Dirk J., Smeitink, Jan A.M., Rodenburg, Richard J.
Publicado 2020

Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis

por Panneman, Daan M., Hitti-Malin, Rebekkah J., Holtes, Lara K., de Bruijn, Suzanne E., Reurink, Janine, Boonen, Erica G. M., Khan, Muhammad Imran, Ali, Manir, Andréasson, Sten, De Baere, Elfride, Banfi, Sandro, Bauwens, Miriam, Ben-Yosef, Tamar, Bocquet, Béatrice, De Bruyne, Marieke, de la Cerda, Berta, Coppieters, Frauke, Farinelli, Pietro, Guignard, Thomas, Inglehearn, Chris F., Karali, Marianthi, Kjellström, Ulrika, Koenekoop, Robert, de Koning, Bart, Leroy, Bart P., McKibbin, Martin, Meunier, Isabelle, Nikopoulos, Konstantinos, Nishiguchi, Koji M., Poulter, James A., Rivolta, Carlo, Rodríguez de la Rúa, Enrique, Saunders, Patrick, Simonelli, Francesca, Tatour, Yasmin, Testa, Francesco, Thiadens, Alberta A. H. J., Toomes, Carmel, Tracewska, Anna M., Tran, Hoai Viet, Ushida, Hiroaki, Vaclavik, Veronika, Verhoeven, Virginie J. M., van de Vorst, Maartje, Gilissen, Christian, Hoischen, Alexander, Cremers, Frans P. M., Roosing, Susanne
Publicado 2023