Reuben Matalon, MD, PhD

  • 7130 Citations
  • 48 h-Index
1966 …2017

Research output per year

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Research Output

  • 7130 Citations
  • 48 h-Index
  • 244 Article
  • 4 Chapter
  • 4 Conference contribution
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

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

5 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

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

8 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
2015

Localisation of N-acetylaspartate in oligodendrocytes/myelin

Nordengen, K., Heuser, C., Rinholm, J. E., Matalon, R. & Gundersen, V., Mar 1 2015, In : Brain Structure and Function. 220, 2, p. 899-917 19 p.

Research output: Contribution to journalArticle

34 Scopus citations

Neurodevelopmental and neurobehavioral characteristics in males and females with CDKL5 duplications

Szafranski, P., Golla, S., Jin, W., Fang, P., Hixson, P., Matalon, R., Kinney, D., Bock, H. G., Craigen, W., Smith, J. L., Bi, W., Patel, A., Wai Cheung, S., Bacino, C. A. & Stankiewicz, P., Jul 12 2015, In : European Journal of Human Genetics. 23, 7, p. 915-921 7 p.

Research output: Contribution to journalArticle

14 Scopus citations

Persistence of müllerian duct structures in a genetic male with distal monosomy 10q

Tosur, M., Geary, C., Matalon, R., Radhakrishnan, R., Swischuk, L. E., Tarry, W. F., Dong, J. & Lee, P., Apr 1 2015, In : American Journal of Medical Genetics, Part A. 167, 4, p. 791-796 6 p.

Research output: Contribution to journalArticle

8 Scopus citations
2014

Canavan Disease

Matalon, R. & Matalon, K. M., Nov 13 2014, Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease: Fifth Edition. Elsevier Inc., p. 695-701 7 p.

Research output: Chapter in Book/Report/Conference proceedingChapter

Mucopolysaccharidoses

Michals Matalon, K. & Matalon, R., Jan 1 2014, Encyclopedia of the Neurological Sciences. Elsevier Inc., p. 135-138 4 p.

Research output: Chapter in Book/Report/Conference proceedingChapter

Multiple phenotypes in phosphoglucomutase 1 deficiency

Tegtmeyer, L. C., Rust, S., Van Scherpenzeel, M., Ng, B. G., Losfeld, M. E., Timal, S., Raymond, K., He, P., Ichikawa, M., Veltman, J., Huijben, K., Shin, Y. S., Sharma, V., Adamowicz, M., Lammens, M., Reunert, J., Witten, A., Schrapers, E., Matthijs, G., Jaeken, J. & 30 others, Rymen, D., Stojkovic, T., Laforêt, P., Petit, F., Aumaître, O., Czarnowska, E., Piraud, M., Podskarbi, T., Stanley, C. A., Matalon, R., Burda, P., Seyyedi, S., Debus, V., Socha, P., Sykut-Cegielska, J., Van Spronsen, F., De Meirleir, L., Vajro, P., DeClue, T., Ficicioglu, C., Wada, Y., Wevers, R. A., Vanderschaeghe, D., Callewaert, N., Fingerhut, R., Van Schaftingen, E., Freeze, H. H., Morava, E., Lefeber, D. J. & Marquardt, T., 2014, In : New England Journal of Medicine. 370, 6, p. 533-542 10 p.

Research output: Contribution to journalArticle

133 Scopus citations

Polymorphisms of immunity genes and susceptibility to otitis media in children

Nokso-Koivisto, J., Chonmaitree, T., Jennings, K., Matalon, R., Block, S. & Patel, J., Apr 9 2014, In : PLoS One. 9, 4, e93930.

Research output: Contribution to journalArticle

17 Scopus citations

The Mucolipidoses

Matalon, R. & Matalon, K. M., Nov 13 2014, Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease: Fifth Edition. Elsevier Inc., p. 365-368 4 p.

Research output: Chapter in Book/Report/Conference proceedingChapter

The Mucopolysaccharidoses

Matalon, R., Michals Matalon, K. & Radhakrishnan, G., Nov 13 2014, Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease: Fifth Edition. Elsevier Inc., p. 347-363 17 p.

Research output: Chapter in Book/Report/Conference proceedingChapter

2013

A single intravenous rAAV injection as late as P20 achieves efficacious and sustained CNS gene therapy in Canavan mice

Ahmed, S. S., Li, H., Cao, C., Sikoglu, E. M., Denninger, A. R., Su, Q., Eaton, S., Liso Navarro, A. A., Xie, J., Szucs, S., Zhang, H., Moore, C., Kirschner, D. A., Seyfried, T. N., Flotte, T. R., Matalon, R. & Gao, G., 2013, In : Molecular Therapy. 21, 12, p. 2136-2147 12 p.

Research output: Contribution to journalArticle

44 Scopus citations
2012

Deletions in chromosome 6p22.3-p24.3, including ATXN1, are associated with developmental delay and autism spectrum disorders

Celestino-Soper, P. B., Skinner, C., Schroer, R., Eng, P., Shenai, J., Nowaczyk, M. M. J., Terespolsky, D., Cushing, D., Patel, G. S., Immken, L., Willis, A., Wiszniewska, J., Matalon, R., Rosenfeld, J. A., Stevenson, R. E., Kang, S. H. L., Cheung, S. W., Beaudet, A. L. & Stankiewicz, P., 2012, In : Molecular Cytogenetics. 5, 1, 17.

Research output: Contribution to journalArticle

20 Scopus citations

Identification of a novel 14q13.3 deletion involving the SLC25A21 gene associated with familial synpolydactyly

Meyertholen, K., Ravnan, J. B. & Matalon, R., Jun 2012, In : Molecular Syndromology. 3, 1, p. 25-29 5 p.

Research output: Contribution to journalArticle

4 Scopus citations
2011

A complex chromosome rearrangement, der(6)ins(6)(p21.1q25.3q27)inv(6)(p25.3q27), in a child with cleidocranial dysplasia

Northup, J. K., Matalon, R., Lockhart, L., Hawkins, J. C. & Velagaleti, G. V. N., Jul 2011, In : European Journal of Medical Genetics. 54, 4

Research output: Contribution to journalArticle

3 Scopus citations

Acute otitis media severity: Association with cytokine gene polymorphisms and other risk factors

McCormick, D. P., Grady, J. J., Diego, A., Matalon, R., Revai, K., Patel, J., Han, Y. & Chonmaitree, T., May 2011, In : International Journal of Pediatric Otorhinolaryngology. 75, 5, p. 708-712 5 p.

Research output: Contribution to journalArticle

18 Scopus citations

Modification of aspartoacylase for potential use in enzyme replacement therapy for the treatment of Canavan disease

Zano, S., Malik, R., Szucs, S., Matalon, R. & Viola, R. E., Feb 2011, In : Molecular Genetics and Metabolism. 102, 2, p. 176-180 5 p.

Research output: Contribution to journalArticle

16 Scopus citations
2010

Aspartoacylase deficiency affects early postnatal development of oligodendrocytes and myelination

Mattan, N. S., Ghiani, C. A., Lloyd, M., Matalon, R., Bok, D., Casaccia, P. & de Vellis, J., Nov 2010, In : Neurobiology of Disease. 40, 2, p. 432-443 12 p.

Research output: Contribution to journalArticle

23 Scopus citations

Neuronal localization of the mitochondrial protein NIPSNAP1 in rat nervous system

Nautiyal, M., Sweatt, A. J., MacKenzie, J. A., Mark Payne, R., Szucs, S., Matalon, R., Wallin, R. & Hutson, S. M., Aug 2010, In : European Journal of Neuroscience. 32, 4, p. 560-569 10 p.

Research output: Contribution to journalArticle

17 Scopus citations

Pericentric inversion, inv(14)(p11.2q22.3), in a 9-month old with features of Goldenhar syndrome

Northup, J. K., Matalon, D., Hawkins, J. C., Matalon, R. & Velagaleti, G. V. N., Oct 2010, In : Clinical Dysmorphology. 19, 4, p. 185-189 5 p.

Research output: Contribution to journalArticle

9 Scopus citations
2009

Association between cytokine gene polymorphisms and risk for upper respiratory tract infection and acute otitis media

Revai, K., Patel, J., Grady, J. J., Nair, S., Matalon, R. & Chonmaitree, T., Jul 15 2009, In : Clinical Infectious Diseases. 49, 2, p. 257-261 5 p.

Research output: Contribution to journalArticle

34 Scopus citations

Fragile X syndrome

Hayes, E. W. & Matalon, R., Aug 2009, In : Pediatrics. 124, 2, p. 790-792 3 p.

Research output: Contribution to journalArticle

4 Scopus citations

Lack of aspartoacylase activity disrupts survival and differentiation of neural progenitors and oligodendrocytes in a mouse model of Canavan disease

Kumar, S., Biancotti, J. C., Matalon, R. & De Vellis, J., Nov 15 2009, In : Journal of Neuroscience Research. 87, 15, p. 3415-3427 13 p.

Research output: Contribution to journalArticle

21 Scopus citations

When should children be tested for genetic diseases?

Trott, A. A. & Matalon, R., 2009, In : Pediatrics. 124, 4

Research output: Contribution to journalArticle

2 Scopus citations
2008

First report of an interstitial deletion, del(5)(q33.1q35.1) in a girl with primary amenorrhea, seizures, and severe behavioral and developmental deficiencies

Northup, J. K., Wain, K. E., Hawkins, J. C., Matalon, R. & Velagaleti, G. V. N., Oct 1 2008, In : American Journal of Medical Genetics, Part A. 146, 19, p. 2578-2582 5 p.

Research output: Contribution to journalArticle

1 Scopus citations
2007

Absence-like and tonic seizures in aspartoacylase/attractin double-mutant mice

Gohma, H., Kuramoto, T., Matalon, R., Surendran, S., Tyring, S., Kitada, K., Sasa, M. & Serikawa, T., Apr 26 2007, In : Experimental Animals. 56, 2, p. 161-165 5 p.

Research output: Contribution to journalArticle

3 Scopus citations

Bimodal occurrence of aspartoacylase in myelin and cytosol of brain

Wang, J., Matalon, R., Bhatia, G., Wu, G., Li, H., Liu, T., Lu, Z. H. & Ledeen, R. W., Apr 2007, In : Journal of Neurochemistry. 101, 2, p. 448-457 10 p.

Research output: Contribution to journalArticle

12 Scopus citations

Double blind placebo control trial of large neutral amino acids in treatment of PKU: Effect on blood phenylalanine

Matalon, R., Michals-Matalon, K., Bhatia, G., Burlina, A. B., Burlina, A. P., Braga, C., Fiori, L., Giovannini, M., Grechanina, E., Novikov, P., Grady, J., Tyring, S. K. & Guttler, F., Apr 2007, In : Journal of Inherited Metabolic Disease. 30, 2, p. 153-158 6 p.

Research output: Contribution to journalArticle

60 Scopus citations

Mutations in the regulatory domain of phenylalanine hydroxylase and response to tetrahydrobiopterin

Wang, L., Surendran, S., Michals-Matalon, K., Bhatia, G., Tanskley, S., Koch, R., Grady, J., Tyring, S. K., Stevens, R. C., Guttler, F. & Matalon, R., Jun 2007, In : Genetic Testing. 11, 2, p. 174-178 5 p.

Research output: Contribution to journalArticle

9 Scopus citations

Response of phenylketonuria to tetrahydrobiopterin

Michals-Matalon, K., Bhatia, G., Guttler, F., Tyring, S. K. & Matalon, R., Jun 2007, In : Journal of Nutrition. 137, 6

Research output: Contribution to journalArticle

15 Scopus citations
2006

Association of proinflammatory cytokine gene polymorphisms with susceptibility to otitis media

Patel, J., Nair, S., Revai, K., Grady, J., Saeed, K., Matalon, R., Block, S. & Chonmaitree, T., Dec 2006, In : Pediatrics. 118, 6, p. 2273-2279 7 p.

Research output: Contribution to journalArticle

59 Scopus citations

Canavan disease: Studies on the knockout mouse

Matalon, R., Michals-Matalon, K., Surendran, S. & Tyring, S. K., 2006, Advances in Experimental Medicine and Biology. Springer New York, Vol. 576. p. 77-93 17 p. (Advances in Experimental Medicine and Biology; vol. 576).

Research output: Chapter in Book/Report/Conference proceedingConference contribution

6 Scopus citations

Does ASPA gene mutation in Canavan disease alter oligodendrocyte development? A tissue culture study of ASPA KO mice brain

Kumar, S., Sowmyalakshmi, R., Daniels, S. L., Chang, R., Surendran, S., Matalon, R. & De Vellis, J., 2006, Advances in Experimental Medicine and Biology. Springer New York, Vol. 576. p. 175-182 8 p. (Advances in Experimental Medicine and Biology; vol. 576).

Research output: Chapter in Book/Report/Conference proceedingConference contribution

5 Scopus citations

Erratum: Canavan disease: A monogenic trait with complex genomic interaction (Molecular Genetics and Metabolism (2003) 80 (74-80) DOI: 10.1016/j.ymgme.2003.08.015

Surendran, S., Michals-Matalon, K., Quast, M. J., Tyring, S. K., Wei, J., Ezell, E. L. & Matalon, R., Mar 2006, In : Molecular Genetics and Metabolism. 87, 3 SPEC. ISS., p. 279 1 p.

Research output: Contribution to journalArticle

Hyaluronidase increases the biodistribution of acid α-1,4 glucosidase in the muscle of Pompe disease mice: An approach to enhance the efficacy of enzyme replacement therapy

Matalon, R., Surendran, S., Campbell, G. A., Michals-Matalon, K., Tyring, S. K., Grady, J., Cheng, S. & Kaye, E., Nov 24 2006, In : Biochemical and Biophysical Research Communications. 350, 3, p. 783-787 5 p.

Research output: Contribution to journalArticle

6 Scopus citations

Large neutral amino acids in the treatment of phenylketonuria (PKU)

Matalon, R., Michals-Matalon, K., Bhatia, G., Grechanina, E., Novikov, P., McDonald, J. D., Grady, J., Tyring, S. K. & Guttler, F., Dec 2006, In : Journal of Inherited Metabolic Disease. 29, 6, p. 732-738 7 p.

Research output: Contribution to journalArticle

57 Scopus citations

Physiological role of N-acetylaspartate: Contribution to myelinogenesis

Ledeen, R. W., Wang, J., Wu, G., Lu, Z. H., Chakraborty, G., Meyenhofer, M., Tyring, S. K. & Matalon, R., 2006, Advances in Experimental Medicine and Biology. Springer New York, Vol. 576. p. 131-143 13 p. (Advances in Experimental Medicine and Biology; vol. 576).

Research output: Chapter in Book/Report/Conference proceedingConference contribution

18 Scopus citations

Upregulation of aspartoacylase activity in the duodenum of obesity induced diabetes mouse: Implications on diabetic neuropathy

Surendran, S., Matalon, R. & Tyring, S. K., Jul 7 2006, In : Biochemical and Biophysical Research Communications. 345, 3, p. 973-975 3 p.

Research output: Contribution to journalArticle

17 Scopus citations
2005

Abnormal expression of genes associated with development and inflammation in the heart of mouse maternal phenylketonuria offspring

Matalon, R., Surendran, S., McDonald, J. D., Okorodudu, A., Tyring, S. K., Michals-Matalon, K. & Harris, P., Jul 2005, In : International Journal of Immunopathology and Pharmacology. 18, 3, p. 557-565 9 p.

Research output: Contribution to journalArticle

11 Scopus citations

Altered expression of myocilin in the brain of a mouse model for phenylketonuria (PKU)

Surendran, S., Matalon, D., Tyring, S. K., Rady, P. L., Velagaleti, G. V. & Matalon, R., Jul 15 2005, In : Neuroscience Letters. 382, 3, p. 323-326 4 p.

Research output: Contribution to journalArticle

3 Scopus citations

Aspartoacylase gene knockout in the mouse: Impact on reproduction

Surendran, S., Szucs, S., Tyring, S. K. & Matalon, R., Jul 2005, In : Reproductive Toxicology. 20, 2, p. 283-285 3 p.

Research output: Contribution to journalArticle

7 Scopus citations

Aspartoacylase gene knockout results in severe vacuolation in the white matter and gray matter of the spinal cord in the mouse

Surendran, S., Campbell, G., Tyring, S. K. & Matalon, R., Mar 2005, In : Neurobiology of Disease. 18, 2, p. 385-389 5 p.

Research output: Contribution to journalArticle

21 Scopus citations

Defective N-acetylaspartate catabolism reduces brain acetate levels and myelin lipid synthesis in Canavan's disease

Madhavarao, C. N., Arun, P., Moffett, J. R., Szucs, S., Surendran, S., Matalon, R., Garbern, J., Hristova, D., Johnson, A., Jiang, W. & Namboodiri, M. A. A., Apr 5 2005, In : Proceedings of the National Academy of Sciences of the United States of America. 102, 14, p. 5221-5226 6 p.

Research output: Contribution to journalArticle

128 Scopus citations
21 Scopus citations

Five years of synergistic scientific effort on phenylketonuria therapeutic development and molecular understanding

Blau, N., Koch, R., Matalon, R. & Stevens, R. C., Dec 2005, In : Molecular Genetics and Metabolism. 86, SUPPL.

Research output: Contribution to journalArticle

1 Scopus citations

Response of patients with phenylketonuria in the US to tetrahydrobiopterin

Matalon, R., Michals-Matalon, K., Koch, R., Grady, J., Tyring, S. & Stevens, R. C., Dec 2005, In : Molecular Genetics and Metabolism. 86, SUPPL.

Research output: Contribution to journalArticle

27 Scopus citations
2004

Aspartoacylase deficiency does not affect N-acetylaspartylglutamate level or glutamate carboxypeptidase II activity in the knockout mouse brain

Surendran, S., Ezell, E. L., Quast, M. J., Wei, J., Tyring, S. K., Michals-Matalon, K. & Matalon, R., Aug 6 2004, In : Brain Research. 1016, 2, p. 268-271 4 p.

Research output: Contribution to journalArticle

12 Scopus citations