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

Mutation Medicine & Life Sciences
Genes Medicine & Life Sciences
Therapeutics Medicine & Life Sciences
Mucopolysaccharidosis I Medicine & Life Sciences
Phenotype Medicine & Life Sciences
Newborn Infant Medicine & Life Sciences
Liver Medicine & Life Sciences
Mucopolysaccharidoses Medicine & Life Sciences

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

Projects 1995 2027

Mucopolysaccharidosis II
Glycogen Storage Disease Type II
Late Onset Disorders
human GAA protein
Mucopolysaccharidosis I

Research Output 1976 2018

Patient Decisions to Receive Secondary Pharmacogenomic Findings and Development of a Multidisciplinary Practice Model to Integrate Results Into Patient Care

Hicks, J. K., Shealy, A., Schreiber, A., Coleridge, M., Noss, R., Natowicz, M., Moran, R., Moss, T., Erwin, A. & Eng, C. Jan 1 2018 In : Clinical and Translational Science. 11, 1, p. 71-76 6 p.

Research output: Research - peer-reviewArticle

Patient Care
Pharmaceutical Preparations

An Exploration of Genetic Test Utilization, Genetic Counseling, and Consanguinity within the Inborn Errors of Metabolism Collaborative (IBEMC)

Stein, Q. P., Vockley, C. W., Edick, M. J., Zhai, S., Hiner, S. J., Loman, R. S., Davis-Keppen, L., Zuck, T. A., Cameron, C. A., Berry, S. A. & For The Inborn Errors Of Metabolism Collaborative Dec 1 2017 In : Journal of Genetic Counseling. 26, 6, p. 1238-1243 6 p.

Research output: Research - peer-reviewArticle

Inborn Errors Metabolism
Genetic Counseling
Genetic Testing
Fatty Acids

Bilateral Labyrinthine and Internal Auditory Canal Enhancement in an Infant with Severe Labyrinthine Dysplasia: A Previously Unreported Phenomenon

Anzalone, C. L., Ho, M. L., Patel, N. S., Schimmenti, L. A., Dejong, M. D. & Carlson, M. L. Jun 1 2017 In : Otology and Neurotology. 38, 5, p. e21-e25

Research output: Research - peer-reviewArticle

Sensorineural Hearing Loss
Inner Ear
Cochlear Implantation
Temporal Bone

Activities 2015 2015

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

Doctoral Dissertation Fellowship

Ou, L. (Recipient)
Sep 2015Aug 2016

Activity: Types of Award - Prize (including medals and awards)


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)

NIH Lysosomal Disease Network Fellow

Li Ou (Recipient), 2015

Prize: Prize (including medals and awards)