A Novel de Novo Gain-of-Function CACNA1D Variant in Neurodevelopmental Disease with Congenital Tremor, Seizures, and Hypotonia

Dannenberg, F., von Moers, A., Bittigau, P., Lange, J. R., Wiegand, S., Török, F., Stölting, G., Striessnig, J. R., Motazacker, M. M., Broekema, M. F., Schuelke, M., Kaindl, A. M., Scholl, U. I. & Ortner, N. J., 6 Sept 2024, In: Neurology: Genetics. 10, 5, 10.1212/NXG.0000000000200186.

Research output: Contribution to journal › Article › Academic › peer-review

Diagnostic utility and reporting recommendations for clinical DNA methylation episignature testing in genetically undiagnosed rare diseases

Kerkhof, J., Rastin, C., Levy, M. A., Relator, R., McConkey, H., Demain, L., Dominguez-Garrido, E., Kaat, L. D., Houge, S. D., DuPont, B. R., Fee, T., Fletcher, R. S., Gokhale, D., Haukanes, B. I., Henneman, P., Hilton, S., Hilton, B. A., Jenkinson, S., Lee, J. A. & Louie, R. J. & 15 others, Motazacker, M. M., Rzasa, J., Stevenson, R. E., Plomp, A., van der Laan, L., van der Smagt, J., Walden, K. K., Banka, S., Mannens, M., Skinner, S. A., Friez, M. J., Campbell, C., Tedder, M. L., Alders, M. & Sadikovic, B., 1 May 2024, In: Genetics in medicine. 26, 5, 101075.

Research output: Contribution to journal › Article › Academic › peer-review

Spliceosome malfunction causes neurodevelopmental disorders with overlapping features

Li, D., Wang, Q., Bayat, A., Battig, M. R., Zhou, Y., Bosch, D. G. M., van Haaften, G., Granger, L., Petersen, A. K., Pérez-Jurado, L. A., Aznar-Laín, G., Aneja, A., Hancarova, M., Bendova, S., Schwarz, M., Pourova, R. K., Sedlacek, Z., Keena, B. A., March, M. E. & Hou, C. & 133 others, O’Connor, N., Bhoj, E. J., Harr, M. H., Lemire, G., Boycott, K. M., Towne, M., Li, M., Tarnopolsky, M., Brady, L., Parker, M. J., Faghfoury, H., Parsley, L. K., Agolini, E., Dentici, M. L., Novelli, A., Wright, M., Palmquist, R., Lai, K., Scala, M., Striano, P., Iacomino, M., Zara, F., Cooper, A., Maarup, T. J., Byler, M., Lebel, R. R., Balci, T. B., Louie, R., Lyons, M., Douglas, J., Nowak, C., Afenjar, A., Hoyer, J., Keren, B., Maas, S. M., Motazacker, M. M., Martinez-Agosto, J. A., Rabani, A. M., McCormick, E. M., Falk, M. J., Ruggiero, S. M., Helbig, I., Møller, R. S., Tessarollo, L., Ardori, F. T., Palko, M. E., Hsieh, T.-C., Krawitz, P. M., Ganapathi, M., Gelb, B. D., Jobanputra, V., Wilson, A., Greally, J., Jacquemont, S. B., Jizi, K., Bruel, A.-L., Quelin, C., Misra, V. K., Chick, E., Romano, C., Greco, D., Arena, A., Morleo, M., Nigro, V., Seyama, R., Uchiyama, Y., Matsumoto, N., Taira, R., Tashiro, K., Sakai, Y., Yigit, G. K., Wollnik, B., Wagner, M., Kutsche, B., Hurst, A. C. E., Thompson, M. L., Schmidt, R., Randolph, L., Spillmann, R. C., Shashi, V., Higginbotham, E. J., Cordeiro, D., Carnevale, A., Costain, G., Khan, T., Funalot, B., Mau-Them, F. T., Garcia Moya, L. F., García-Miñaúr, S., Osmond, M., Chad, L., Quercia, N., Carrasco, D., Li, C., Sanchez-Valle, A., Kelley, M., Nizon, M., Jensson, B. O., Sulem, P., Stefansson, K., Gorokhova, S., Busa, T., Rio, M., Habdallah, H. H., Lesieur-Sebellin, M., Amiel, J., Pingault, V. R., Mercier, S., Vincent, M., Philippe, C., Fatus-Fauconnier, C., Friend, K., Halligan, R. K., Biswas, S., Rosser, J., Shoubridge, C., Corbett, M., Barnett, C., Gecz, J., Leppig, K., Slavotinek, A., Marcelis, C., Pfundt, R., de Vries, B. B. A., van Slegtenhorst, M. A., Brooks, A. S., Cogne, B., Rambaud, T., Tümer, Z., Zackai, E. H., Akizu, N., Song, Y. & Hakonarson, H., 20 Jan 2024, In: Journal of clinical investigation. 134, 1, e171235.

Research output: Contribution to journal › Article › Academic › peer-review

Two newly identified CACNA1I variants linked to neurodevelopmental disorder and epilepsy differentially affect Cav3.3 gating properties

el Ghaleb, Y., Fernandez-Quintero, M. L., Campiglio, M., Liedl, K. R., Plomp, A. S., Bakker, D. P., Motazacker, M. M., Kortüm, F., Höing, A.-S., Kutsche, K. & Flucher, B. E., 10 Feb 2023, In: Biophysical journal. 122, 3S1, p. 107a

Research output: Contribution to journal › Article › Academic › peer-review

Clinicobiological characteristics and treatment efficacy of novel agents in chronic lymphocytic leukemia with IGLV3-21R110

Hengeveld, P. J., Ertem, Y. E., Dubois, J. M. N., Mellink, C. H. M., van der Kevie-Kersemaekers, A.-M., Evers, L. M., Heezen, K., Kolijn, P. M., Mook, O. R. F., Motazacker, M. M., Nasserinejad, K., Kersting, S., Westerweel, P. E., Niemann, C. U., Kater, A. P., Langerak, A. W. & Levin, M.-D., 1 Jul 2022, In: Leukemia. 36, 7, p. 1935-1938 4 p.

Research output: Contribution to journal › Article › Academic › peer-review