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  • Reuben Matalon
2016

RAAV Gene Therapy in a Canavan's Disease Mouse Model Reveals Immune Impairments and an Extended Pathology beyond the Central Nervous System

Ahmed, S. S., Schattgen, S. A., Frakes, A. E., Sikoglu, E. M., Su, Q., Li, J., Hampton, T. G., Denninger, A. R., Kirschner, D. A., Kaspar, B., Matalon, R. & Gao, G., Jun 1 2016, In : Molecular Therapy. 24, 6, p. 1030-1041 12 p.

Research output: Contribution to journalArticle

8 Scopus citations
2017

Identification of novel candidate disease genes from de novo exonic copy number variants

Gambin, T., Yuan, B., Bi, W., Liu, P., Rosenfeld, J. A., Coban-Akdemir, Z., Pursley, A. N., Nagamani, S. C. S., Marom, R., Golla, S., Dengle, L., Petrie, H. G., Matalon, R., Emrick, L., Proud, M. B., Treadwell-Deering, D., Chao, H. T., Koillinen, H., Brown, C., Urraca, N. & 32 others, Mostafavi, R., Bernes, S., Roeder, E. R., Nugent, K. M., Bader, P. I., Bellus, G., Cummings, M., Northrup, H., Ashfaq, M., Westman, R., Wildin, R., Beck, A. E., Immken, L. D., Elton, L., Varghese, S., Buchanan, E., Faivre, L., Lefebvre, M., Schaaf, C. P., Walkiewicz, M., Yang, Y., Kang, S. H. L., Lalani, S. R., Bacino, C. A., Beaudet, A. L., Breman, A. M., Smith, J. L., Cheung, S. W., Lupski, J. R., Patel, A., Shaw, C. A. & Stankiewicz, P., Sep 21 2017, In : Genome Medicine. 9, 1, 83.

Research output: Contribution to journalArticle

23 Scopus citations
2016

Acute otitis media and other complications of viral respiratory infection

Chonmaitree, T., Trujillo, R., Jennings, K., Alvarez-Fernandez, P., Patel, J., Loeffelholz, M. J., Nokso-Koivisto, J., Matalon, R., Pyles, R., Miller, A. L. & McCormick, D. P., Apr 1 2016, In : Pediatrics. 137, 4

Research output: Contribution to journalArticle

33 Scopus citations

Xq11.1-11.2 deletion involving ARHGEF9 in a girl with autism spectrum disorder

Bhat, G., LaGrave, D., Millson, A., Herriges, J., Lamb, A. N. & Matalon, R., Apr 15 2016, (Accepted/In press) In : European Journal of Medical Genetics.

Research output: Contribution to journalArticle

7 Scopus citations
2017

Long-term treatment of phenylketonuria with a new medical food containing large neutral amino acids

Concolino, D., Mascaro, I., Moricca, M. T., Bonapace, G., Matalon, K., Trapasso, J., Radhakrishnan, G., Ferrara, C., Matalon, R. & Strisciuglio, P., Jan 1 2017, In : European Journal of Clinical Nutrition. 71, 1, p. 51-55 5 p.

Research output: Contribution to journalArticle

6 Scopus citations