Fingerprint The fingerprint is based on mining the text of the scientific documents related to the associated persons. Based on that an index of weighted terms is created, which defines the key subjects of research unit

Mucopolysaccharidosis I Medicine & Life Sciences
Mutation Medicine & Life Sciences
Mucopolysaccharidoses Medicine & Life Sciences
Mucopolysaccharidosis II Medicine & Life Sciences
Genes Medicine & Life Sciences
Iduronidase Medicine & Life Sciences
Phenotype Medicine & Life Sciences
Inborn Urea Cycle Disorder Medicine & Life Sciences

Network Recent external collaboration on country level. Dive into details by clicking on the dots.

Projects 1995 2027

Research Output 1976 2019

An N-terminal heterozygous missense CASK mutation is associated with microcephaly and bilateral retinal dystrophy plus optic nerve atrophy

LaConte, L. E. W., Chavan, V., DeLuca, S., Rubin, K., Malc, J., Berry, S. A., Gail Summers, C. & Mukherjee, K., Jan 1 2019, In : American Journal of Medical Genetics, Part A. 179, 1, p. 94-103 10 p.

Research output: Contribution to journalArticle

Retinal Dystrophies
Optic Atrophy
Microcephaly
Missense Mutation
Optic Nerve

Comprehensive behavioral and biochemical outcomes of novel murine models of GM1-gangliosidosis and Morquio syndrome type B

Przybilla, M. J., Ou, L., Tăbăran, A. F., Jiang, X., Sidhu, R., Kell, P. J., Ory, D. S., O'Sullivan, G. & Whitley, C. B., Feb 1 2019, In : Molecular Genetics and Metabolism. 126, 2, p. 139-150 12 p.

Research output: Contribution to journalArticle

Mucopolysaccharidosis IV
GM1 Gangliosidosis
Enzyme activity
Galactosidases
Clustered Regularly Interspaced Short Palindromic Repeats

Correction to: Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype–phenotype correlation (Genetics in Medicine, (2018), 10.1038/s41436-018-0269-0)

Koczkowska, M., Callens, T., Gomes, A., Sharp, A., Chen, Y., Hicks, A. D., Aylsworth, A. S., Azizi, A. A., Basel, D. G., Bellus, G., Bird, L. M., Blazo, M. A., Burke, L. W., Cannon, A., Collins, F., DeFilippo, C., Denayer, E., Digilio, M. C., Dills, S. K., Dosa, L. & 50 othersGreenwood, R. S., Griffis, C., Gupta, P., Hachen, R. K., Hernández-Chico, C., Janssens, S., Jones, K. J., Jordan, J. T., Kannu, P., Korf, B. R., Lewis, A. M., Listernick, R. H., Lonardo, F., Mahoney, M. J., Ojeda, M. M., McDonald, M. T., McDougall, C., Mendelsohn, N., Miller, D. T., Mori, M., Oostenbrink, R., Perreault, S., Pierpont, M. E. M., Piscopo, C., Pond, D. A., Randolph, L. M., Rauen, K. A., Rednam, S., Rutledge, S. L., Saletti, V., Schaefer, G. B., Schorry, E. K., Scott, D. A., Shugar, A., Siqveland, E., Starr, L. J., Syed, A., Trapane, P. L., Ullrich, N. J., Wakefield, E. G., Walsh, L. E., Wangler, M. F., Zackai, E., Claes, K. B. M., Wimmer, K., van Minkelen, R., De Luca, A., Martin, Y., Legius, E. & Messiaen, L. M., Mar 1 2019, In : Genetics in Medicine. 21, 3, p. 764-765 2 p.

Research output: Contribution to journalComment/debate

Gene Deletion
Medicine
Phenotype

Activities 2015 2015

  • 1 Types of Award - Prize (including medals and awards)

Doctoral Dissertation Fellowship

Li Ou (Recipient)
Sep 2015Aug 2016

Activity: Other activity typesTypes of Award - Prize (including medals and awards)

Prizes

American Society of Gene and Cell Therapy Travel Award

Li Ou (Recipient), May 2016

Prize: Prize (including medals and awards)

Baosteel Fellowship for Excellent Students

Li Ou (Recipient), 2009

Prize: Prize (including medals and awards)

Students

NIH Lysosomal Disease Network Fellow

Li Ou (Recipient), 2015

Prize: Prize (including medals and awards)