Projects per year
Personal profile
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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Neurocognitive and Neuroimaging markers of emerging cerebral adrenoleukodystrophy
NIH NAT INST OF NEURO DISORDERS & STROKE
8/8/22 → 6/30/23
Project: Research project
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Assessment of repetitive, challenging, sensory, and pain behavior among individuals with CFC syndrome
CARDIO-FACIO-CUTANEOUS INTERNATIONAL
12/1/21 → 12/31/23
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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Neuroanatomical, Cognitive and Family Aspects to Recover
Nationwide Children's Hospital
11/2/16 → 8/31/25
Project: Research project
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Neurocognitive and mental health impact of X-linked adrenoleukodystrophy
Pierpont, R. & Isaia, A. R.
11/2/21 → 7/30/22
Project: Research project
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A dimensional approach to neurodevelopmental differences in genetically well-defined populations: What's next?
Pierpont, E. I., 2023, (Accepted/In press) In: Developmental Medicine and Child Neurology.Research output: Contribution to journal › Comment/debate › peer-review
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Infantile epileptic spasms syndrome in children with cardiofaciocutanous syndrome: Clinical presentation and associations with genotype
Kenney-Jung, D. L., Rogers, D. J., Kroening, S. J., Zatkalik, A. L., Whitmarsh, A. E., Roberts, A. E., Zenker, M., Gambardella, M. L., Contaldo, I., Leoni, C., Onesimo, R., Zampino, G., Tartaglia, M., Battaglia, D. I. & Pierpont, E. I., Dec 2022, In: American Journal of Medical Genetics, Part C: Seminars in Medical Genetics. 190, 4, p. 501-509 9 p.Research output: Contribution to journal › Article › peer-review
Open Access -
Neurocognitive and mental health impact of adrenoleukodystrophy across the lifespan: Insights for the era of newborn screening
Pierpont, E. I., Isaia, A. R., McCoy, E., Brown, S. J., Gupta, A. O. & Eisengart, J. B., Dec 2022, (E-pub ahead of print) In: Journal of Inherited Metabolic Disease. 46, 2, p. 174-193 20 p.Research output: Contribution to journal › Review article › peer-review
Open Access -
Neurologic and neurodevelopmental complications in cardiofaciocutaneous syndrome are associated with genotype: A multinational cohort study
Pierpont, E. I., Kenney-Jung, D. L., Shanley, R., Zatkalik, A. L., Whitmarsh, A. E., Kroening, S. J., Roberts, A. E. & Zenker, M., Jul 2022, In: Genetics in Medicine. 24, 7, p. 1556-1566 11 p.Research output: Contribution to journal › Article › peer-review
Open Access8 Scopus citations -
Primary Adrenal Insufficiency in a Boy with Type I Diabetes: The Importance of Considering X-linked Adrenoleukodystrophy
Wiersma, R. E., Gupta, A. O., Lund, T. C., Sarafoglou, K., Pierpont, E. I., Orchard, P. J. & Miller, B. S., May 1 2022, In: Journal of the Endocrine Society. 6, 5, bvac039.Research output: Contribution to journal › Article › peer-review
Open Access1 Scopus citations