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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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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Collaborations and top research areas from the last five years
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Projects
- 6 Active
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GenoKrabbe: A Comprehensive Genotype-Phenotype Database for Krabbe Disease
Orchard, P. J. (PI), Gupta, A. O. (CoI), Pillai, N. (CoI), Braun, J. A. (Other Role) & Shanley, R. M. (Other Role)
ROSENAU FAMILY RESEARCH FOUNDATION
11/1/24 → 10/31/27
Project: Research project
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A Multicenter Multinational Observational Study of Children withHypochondroplasia
Pillai, N. (PI)
1/10/24 → 1/31/34
Project: Research project
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A Multicenter, Multinational, Observational Study to Characterize Growth in Children with Idiopathic ShortStature
Pillai, N. (PI)
1/2/24 → 1/31/34
Project: Research project
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Bone marrow transplantation reverses metabolic alterations in multiple sulfatase deficiency: a case series
Pillai, N. R., Liu, N., Li, X., Li, X., Ahrens-Nicklas, R., Adang, L., Eisengart, J. B., Bronken, G., Gupta, A., Lund, T. C., Whitley, C. B., Elsea, S. H. & Orchard, P. J., Dec 2025, In: Communications Medicine. 5, 1, 12.Research output: Contribution to journal › Article › peer-review
Open Access -
Detecting the Difficult: An Intronic NPC1 Variant Hiding in Plain Sight
Brown, C. G., Bower, M., Schomaker, M., Goldstein, J., Jarnes, J., Whitley, C. B. & Pillai, N. R., 2025, (Accepted/In press) In: American Journal of Medical Genetics, Part A.Research output: Contribution to journal › Article › peer-review
Open Access -
Dose-intensive therapy (DIT) for infantile Pompe disease: A pilot study
Jarnes, J. R., Pillai, N. R., Ahmed, A., Shrestha, S., Stark, M. & Whitley, C. B., Mar 2025, In: Molecular Genetics and Metabolism Reports. 42, 101179.Research output: Contribution to journal › Article › peer-review
Open Access -
Insights From Minnesota on Newborn Screening for Adrenoleukodystrophy: A 5-Year Update
Rayannavar, A., Billington, C. J., Tryon, R., Kaye, T., Gupta, A., Lund, T. C., Lteif, A., Adriatico, K., Orchard, P. J., Miller, B. S. & Pillai, N. R., May 2025, In: American Journal of Medical Genetics, Part A. 197, 5, e63995.Research output: Contribution to journal › Article › peer-review
Open Access -
Phenotypic variability and the gender paradox in the R363C variant of Fabry disease
Leslie, A. C., Jarnes, J., Ahmed, A., Shrestha, S., Wang, J., Whitley, C. B. & Pillai, N. R., Jan 2025, In: JIMD Reports. 66, 1, e12466.Research output: Contribution to journal › Article › peer-review
Open Access