Projects per year
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Dive into the research topics where Nishitha Pillai is active. These topic labels come from the works of this person. Together they form a unique fingerprint.
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Projects and Grants
- 1 Active
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Collection of Gene Mutations for Laboratory Quality Assurance: Newborn Screening Accuracy Project
SEQUOIA FOUNDATION, CENTERS FOR DISEASE CONTROL & PREVENTION
5/15/23 → 5/14/28
Project: Research project
Research output
- 18 Article
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Arteriovenous malformations as a presenting sign of PTEN hamartoma tumor syndrome: A case series
Dykman, M., Pillai, N. R., Lenhart, K., Nicholson, C., Boull, C., Fritz, E., Flanagan, S. & Maguiness, S., Mar 1 2024, In: Pediatric Dermatology. 41, 2, p. 292-295 4 p.Research output: Contribution to journal › Article › peer-review
Open Access -
Biochemical signatures of disease severity in multiple sulfatase deficiency
Adang, L. A., Mowafy, S., Herbst, Z. M., Zhou, Z., Schlotawa, L., Radhakrishnan, K., Bentley, B., Pham, V., Yu, E., Pillai, N. R., Orchard, P. J., De Castro, M., Vanderver, A., Pasquali, M., Gelb, M. H. & Ahrens-Nicklas, R. C., Mar 2024, In: Journal of Inherited Metabolic Disease. 47, 2, p. 374-386 13 p.Research output: Contribution to journal › Article › peer-review
1 Scopus citations -
Parental request for familial carrier testing in early childhood: The genetic counseling perspective
Southwick, S. V., MacFarlane, I. M., Long, C., Pillai, N. R. & Tryon, R., Mar 2024, In: Clinical Genetics. 105, 3, p. 262-272 11 p.Research output: Contribution to journal › Article › peer-review
Open Access -
Disparities in late and lost: Pediatricians' role in following Pompe disease identified by newborn screening
Pillai, N. R., Fabie, N. A. V., Kaye, T. V., Rosendahl, S. D., Ahmed, A., Hietala, A. D., Jorgenson, A. B., Lanpher, B. C. & Whitley, C. B., Sep 1 2023, In: Molecular Genetics and Metabolism. 140, 1-2, 107633.Research output: Contribution to journal › Article › peer-review
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Hematopoietic cell transplantation for Mucopolysaccharidosis I in the presence of decreased cardiac function
Pillai, N. R., Elsbecker, S. A., Gupta, A. O., Lund, T. C., Orchard, P. J. & Braunlin, E., Nov 2023, In: Molecular Genetics and Metabolism. 140, 3, 107669.Research output: Contribution to journal › Article › peer-review