Alvaro H. Serrano Russi

Expanding the phenotype and genotype spectrum of TAOK1 neurodevelopmental disorder and delineating TAOK2 neurodevelopmental disorder

Elkhateeb, N., Crookes, R., Spiller, M., Pavinato, L., Palermo, F., Brusco, A., Parker, M., Park, S.-M., Mendes, A. C., Saraiva, J. M., Hammer, T. B., Nazaryan-Petersen, L., Barakat, T. S., Wilke, M., Bhoj, E., Ahrens-Nicklas, R. C., Li, D., Nomakuchi, T., Brilstra, E. H. & Hunt, D. & 51 others, Johnson, D., Mansour, S., Oprych, K., Mehta, S. G., Platzer, K., Schnabel, F., Kiep, H., Faust, H., Prinzing, G., Wiltrout, K., Radley, J. A., Serrano Russi, A. H., Atallah, I., Campos-Xavier, B., Amor, D. J., Morgan, A. T., Fagerberg, C., Andersen, U. A., Andersen, C. B., Bijlsma, E. K., Bird, L. M., Mullegama, S. V., Green, A., Isidor, B., Cogné, B., Kenny, J., Lynch, S. A., Quin, S., Low, K., Herget, T., Kortüm, F., Levy, R. J., Morrison, J. L., Wheeler, P. G., Narumanch, T., Peron, K., Matthews, N., Uhlman, J., Bell, L., Pang, L., Scurr, I., Belles, R. S., Salbert, B. A., Schaefer, G. B., Green, S., Ros, A., Rodríguez-Palmero, A., Višnjar, T., Writzl, K., Vasudevan, P. C. & Balasubramanian, M., Mar 2025, In: Genetics in Medicine. 27, 3, p. 101348

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

Subtelomeric deletion of chromosome 10p15.3: Clinical findings and molecular cytogenetic characterization

Descipio, C., Conlin, L., Rosenfeld, J., Tepperberg, J., Pasion, R., Patel, A., McDonald, M. T., Aradhya, S., Ho, D., Goldstein, J., McGuire, M., Mulchandani, S., Medne, L., Rupps, R., Serrano, A. H., Thorland, E. C., Tsai, A. C. H., Hilhorst-Hofstee, Y., Ruivenkamp, C. A. L. & Van Esch, H. & 6 others, Addor, M. C., Martinet, D., Mason, T. B. A., Clark, D., Spinner, N. B. & Krantz, I. D., Sep 2012, In: American Journal of Medical Genetics, Part A. 158 A, 9, p. 2152-2161 10 p.

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