Reuben Matalon, MD, PhD

  • 7016 Citations
  • 48 h-Index
1966 …2017
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  • 4 Similar Profiles
Canavan Disease Medicine & Life Sciences
Phenylketonurias Medicine & Life Sciences
Maternal Phenylketonuria Medicine & Life Sciences
Phenylalanine Medicine & Life Sciences
Fibroblasts Medicine & Life Sciences
Mucopolysaccharidoses Medicine & Life Sciences
Glycosaminoglycans Medicine & Life Sciences
Mutation Medicine & Life Sciences

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Projects 2010 2017

Research Output 1966 2017

  • 7016 Citations
  • 48 h-Index
  • 245 Article
  • 4 Chapter
  • 4 Conference contribution
18 Citations (Scopus)

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

Genes
Exons
Microarray Analysis
Exome
Gene Dosage
3 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 journalArticle

Neutral Amino Acids
Phenylketonurias
Phenylalanine
Food
Diet
27 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 journalArticle

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 journalArticle

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 journalArticle

Intellectual Disability
Language Development Disorders
Chromosome Deletion
GABA Receptors
Brain Diseases