Projects per year
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.
- 12 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
Network
Recent external collaboration on country level. Dive into details by clicking on the dots.
Projects 2014 2019
Neuroanatomical, Cognitive and Family Aspects to Recover
Nationwide Children's Hospital
11/2/16 → 10/30/19
Project: Research project
Brain Neoplasms
Hypophosphatasia
Child Health
Parent Perspectives on Child Behavioral Health Needs
VARIOUS SPONSORS - NON-FEDERAL
7/1/17 → 6/30/19
Project: Research project
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 journal › Article
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 journal › Article
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 journal › Article
Open Access
Mucopolysaccharidosis I
Enzyme Replacement Therapy
Biomarkers
Cerebrospinal Fluid
Enzymes
2
Citations
(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 journal › Article
Down Syndrome
Cognition
Congenital Heart Defects
Social Class
Medical Records
3
Citations
(Scopus)
Mosaicism of the UDP-Galactose transporter SLC35A2 in a female causing a congenital disorder of glycosylation: A case report
Westenfield, K., Sarafoglou, K. M., Speltz, L. C., Pierpont, R., Steyermark, J., Nascene, D. R., Bower, M. & Pierpont, M. E. M., Jun 15 2018, In : BMC medical genetics. 19, 1, 100.Research output: Contribution to journal › Article
Open Access
Congenital Disorders of Glycosylation
Mosaicism
Transferrin
Mutation
Growth Hormone