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  • Reuben Matalon
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

6 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., Jun 1 2016, In : Molecular Therapy. 24, 6, p. 1030-1041 12 p.

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., Jan 1 2015, In : Brain Structure and Function. 220, 2, p. 899-917 19 p.

Research output: Contribution to journalArticle

35 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

15 Scopus citations

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

Tosur, M., Geary, C. A., Matalon, R., Radhakrishnan, R. S., Swischuk, L. E., Tarry, W. F., Dong, J. & Lee, P. D. K., 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., Jan 1 2014, In : New England Journal of Medicine. 370, 6, p. 533-542 10 p.

Research output: Contribution to journalArticle

137 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. A., 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., Dec 2013, In : Molecular Therapy. 21, 12, p. 2136-2147 12 p.

Research output: Contribution to journalArticle

45 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., Apr 6 2012, In : Molecular Cytogenetics. 5, 1, 17.

Research output: Contribution to journalArticle

21 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 1 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. H., Hawkins, J. C. & Velagaleti, G. V. N., Jul 1 2011, In : European Journal of Medical Genetics. 54, 4, p. e394-e398

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. A., Han, Y. & Chonmaitree, T., May 1 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 1 2011, In : Molecular Genetics and Metabolism. 102, 2, p. 176-180 5 p.

Research output: Contribution to journalArticle

16 Scopus citations