Reuben Matalon, MD, PhD

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 journal › Article

Genes

Exons

Microarray Analysis

Exome

Gene Dosage

5 Citations (Scopus)

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 journal › Article

Neutral Amino Acids

Phenylketonurias

Phenylalanine

Food

Diet

30 Citations (Scopus)

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 journal › Article

Otitis Media

Virus Diseases

Respiratory Tract Infections

Parturition

Polymerase Chain Reaction

8 Citations (Scopus)

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., Apr 4 2016, (Accepted/In press) In : Molecular Therapy.

Research output: Contribution to journal › Article

Canavan Disease

Dependovirus

Genetic Therapy

Central Nervous System

Pathology

7 Citations (Scopus)

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 journal › Article

Intellectual Disability

Language Development Disorders

Chromosome Deletion

GABA Receptors

Brain Diseases