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Expertise related to UN Sustainable Development Goals
In 2015, UN member states agreed to 17 global Sustainable Development Goals (SDGs) to end poverty, protect the planet and ensure prosperity for all. This person’s work contributes towards the following SDG(s):
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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.
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Recent external collaboration on country/territory level. Dive into details by clicking on the dots or
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Assessment of repetitive, challenging, sensory, and pain behavior among individuals with CFC syndrome
CARDIO-FACIO-CUTANEOUS INTERNATIONAL
12/1/21 → 12/31/22
Project: Research project
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Delineating the influence of genotype on neurological complications in CFC syndrome
Pierpont, R. & Kenney-Jung, D. L.
CARDIO-FACIO-CUTANEOUS INTERNATIONAL
9/1/20 → 7/31/22
Project: Research project
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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
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Neurocognitive and mental health impact of X-linked adrenoleukodystrophy
11/2/21 → 4/30/22
Project: Research project
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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
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Social behavior in RASopathies and idiopathic autism
Foy, A. M. H., Hudock, R. L., Shanley, R. & Pierpont, E. I., Dec 2022, In: Journal of neurodevelopmental disorders. 14, 1, 5.Research output: Contribution to journal › Article › peer-review
Open Access -
The seventh international RASopathies symposium: Pathways to a cure—expanding knowledge, enhancing research, and therapeutic discovery
Kontaridis, M. I., Roberts, A. E., Schill, L., Schoyer, L., Stronach, B., Andelfinger, G., Aoki, Y., Axelrad, M. E., Bakker, A., Bennett, A. M., Broniscer, A., Castel, P., Chang, C. A., Cyganek, L., Das, T. K., den Hertog, J., Galperin, E., Garg, S., Gelb, B. D., Gordon, K. & 22 others, , 2022, (Accepted/In press) In: American Journal of Medical Genetics, Part A.Research output: Contribution to journal › Article › peer-review
Open Access1 Scopus citations -
Cobalamin J disease detected on newborn screening: Novel variant and normal neurodevelopmental course
Pillai, N. R., Miller, D., Pierpont, E. I., Berry, S. A. & Aggarwal, A., Jun 2021, In: American Journal of Medical Genetics, Part A. 185, 6, p. 1870-1874 5 p.Research output: Contribution to journal › Article › peer-review
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Differential outcomes for frontal versus posterior demyelination in childhood cerebral adrenoleukodystrophy
Gupta, A. O., Nascene, D. R., Shanley, R., Kenney‐Jung, D. L., Eisengart, J. B., Lund, T. C., Orchard, P. J. & Pierpont, E. I., Nov 2021, In: Journal of Inherited Metabolic Disease. 44, 6, p. 1434-1440 7 p.Research output: Contribution to journal › Article › peer-review
Open Access -
Impact of pediatric hypophosphatasia on behavioral health and quality of life
Pierpont, E. I., Simmons, J. H., Spurlock, K. J., Shanley, R. & Sarafoglou, K. M., Dec 2021, In: Orphanet Journal of Rare Diseases. 16, 1, 80.Research output: Contribution to journal › Article › peer-review
Open Access2 Scopus citations