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.
- 9 Similar Profiles
Noonan Syndrome
Medicine & Life Sciences
Adrenoleukodystrophy
Medicine & Life Sciences
Fragile X Syndrome
Medicine & Life Sciences
Neurofibromatosis 1
Medicine & Life Sciences
Mutation
Medicine & Life Sciences
Aptitude
Medicine & Life Sciences
Language
Medicine & Life Sciences
Down Syndrome
Medicine & Life Sciences
Network
Recent external collaboration on country level. Dive into details by clicking on the dots.
Projects 2014 2024
Frontiers in Congenital Disorders of Glycosylation (Natural History Project)
Sarafoglou, K. M., Miller, B. S. & Pierpont, R.
9/15/19 → 7/31/24
Project: Research project
Semiology, treatment, and neurodevelopmental impact of seizures among individuals with CFC syndrome
Pierpont, R. & Kenney-Jung, D. L.
CARDIO-FACIO-CUTANEOUS INTERNATIONAL
8/1/19 → 7/31/20
Project: Research project
Post-Traumatic Epilepsy
Therapeutics
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
Neuroanatomical, Cognitive and Family Aspects to Recover
Nationwide Children's Hospital
11/2/16 → 10/30/19
Project: Research project
Brain Neoplasms
Research Output 2005 2019
3
Citations
(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., Hietala, A., Kenney-Jung, D., Lund, T., Miller, W., Pierpont, E. I., Raymond, G., Winslow, H., Zierhut, H. A. & Orchard, P. J., Jul 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. A., Raymond, G. V., Nascene, D. R., Miller, W. P., Pierpont, E. I. & 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
Emotional functioning among children with neurofibromatosis type 1 or Noonan syndrome
McNeill, A. M., Hudock, R. L., Foy, A. M. H., Shanley, R., Semrud-Clikeman, M., Pierpont, M. E., Berry, S. A., Sommer, K., Moertel, C. L. & Pierpont, E. I., Jan 1 2019, (Accepted/In press) In : American Journal of Medical Genetics, Part A.Research output: Contribution to journal › Article
Noonan Syndrome
Neurofibromatoses
Neurofibromatosis 1
Siblings
Attention Deficit Disorder with Hyperactivity
1
Citation
(Scopus)
Intrathecal enzyme replacement for Hurler syndrome: biomarker association with neurocognitive outcomes
Eisengart, J. B., Pierpont, E. I., Kaizer, A. M., Rudser, K. D., 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., Nov 1 2019, In : Genetics in Medicine. 21, 11, p. 2552-2560 9 p.Research output: Contribution to journal › Article
Open Access
Mucopolysaccharidosis I
Enzyme Replacement Therapy
Biomarkers
Cerebrospinal Fluid
Enzymes
4
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, E. I., Feingold, E., Maslen, C. L., Reeves, R. H. & Sherman, S. L., Nov 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