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Fingerprint The Fingerprint is created by mining the titles and abstracts of the person's research outputs and projects/funding awards to create an index of weighted terms from discipline-specific thesauri.

  • 13 Similar Profiles
Noonan Syndrome Medicine & Life Sciences
Adrenoleukodystrophy Medicine & Life Sciences
Fragile X Syndrome Medicine & Life Sciences
Mutation Medicine & Life Sciences
Aptitude Medicine & Life Sciences
Language Medicine & Life Sciences
Down Syndrome Medicine & Life Sciences
Short-Term Memory Medicine & Life Sciences

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Projects 2014 2019

Hypophosphatasia
Child Health
Protective Factors
Cardiofaciocutaneous syndrome

Research Output 2005 2019

1 Citation (Scopus)

A report on state-wide implementation of newborn screening for X-linked Adrenoleukodystrophy

Wiens, K., Berry, S. A., Choi, H., Gaviglio, A., Gupta, A. O., Hietala, A., Kenney-Jung, D. L., Lund, T. C., Miller, W., Pierpont, R., Raymond, G., Winslow, H., Zierhut, H. & Orchard, P. J., Jul 1 2019, In : American Journal of Medical Genetics, Part A. 179, 7, p. 1205-1213 9 p.

Research output: Contribution to journalArticle

Open Access
Adrenoleukodystrophy
Newborn Infant
Adrenal Insufficiency
Lysophosphatidylcholines
Pedigree

Association between APOE4 and biomarkers in cerebral adrenoleukodystrophy

Orchard, P. J., Markowski, T. W., Higgins, L., Raymond, G. V., Nascene, D. R., Miller, W. P., Pierpont, R. & Lund, T. C., Dec 1 2019, In : Scientific reports. 9, 1, 7858.

Research output: Contribution to journalArticle

Open Access
Adrenoleukodystrophy
Biomarkers
Nervous System
Nervous System Trauma
Gadolinium

Intrathecal enzyme replacement for Hurler syndrome: biomarker association with neurocognitive outcomes

Eisengart, J., Pierpont, R., Kaizer, A. M., Rudser, K., King, K. E., Pasquali, M., Polgreen, L. E., Dickson, P. I., Le, S. Q., Miller, W. P., Tolar, J., Orchard, P. J. & Lund, T. C., Jan 1 2019, In : Genetics in Medicine.

Research output: Contribution to journalArticle

Open Access
Mucopolysaccharidosis I
Enzyme Replacement Therapy
Biomarkers
Cerebrospinal Fluid
Enzymes
1 Citation (Scopus)

Associations between medical history, cognition, and behavior in youth with down syndrome: A report from the down syndrome cognition project

Rosser, T. C., Edgin, J. O., Capone, G. T., Hamilton, D. R., Allen, E. G., Dooley, K. J., Anand, P., Strang, J. F., Armour, A. C., Frank-Crawford, M. A., Channell, M. M., Pierpont, R., Feingold, E., Maslen, C. L., Reeves, R. H. & Sherman, S. L., Nov 1 2018, In : American journal on intellectual and developmental disabilities. 123, 6, p. 514-528 15 p.

Research output: Contribution to journalArticle

Down Syndrome
Cognition
Congenital Heart Defects
Social Class
Medical Records
2 Citations (Scopus)
Open Access
Congenital Disorders of Glycosylation
Mosaicism
Transferrin
Mutation
Growth Hormone