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Nishitha Pillai

20182026

Research activity per year

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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):

  1. SDG 3 - Good Health and Well-being
    SDG 3 Good Health and Well-being
  2. SDG 10 - Reduced Inequalities
    SDG 10 Reduced Inequalities

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Collaborations and top research areas from the last five years

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View all 8 projects and grants

  • A progeria syndrome links DNA hypermethylation to age-related pathology

    Sarni, D., Neary, G., Carroll, P. L., Vink, C. S., Billard, C. V., Isobe, T., Weng, X., Portman, J. R., McCartney, D. L., Heyn, P., van ‘t Hof, R. J., Morrison, L. R., Martin, C. A., Stok, C., Harley, M. E., Leitch, A., van den Ancker, M., Robertson, N., Kitto, L. & Clark, R. & 52 others, Rennie, M., Popravko, A., McClure, J. J., Parry, D. A., Camiolo, G., Leah, T., Jakobczyk, H., Megaw, R., McKie, L., Marshall, G. F., Balkic, N., Amiel, J., Barragán Arévalo, T., Bronken McCarthy, G., Buchanan, C. A., Buffet, A., Cascón, A., Cogne, B., Conrad, S., Cueto-González, A. M., Currás-Freixes, M., Houge, G. D., Fong, C. T., George-Abraham, J. K., Gibson, K., Ibáñez, L., Longo, N., Lussey-Lepoutre, C., Miller, B. S., Moles-Fernandez, A., Pillai, N. R., Tvrdik, T., Vincent, M., Yokoyama, E., Abbott, C. M., Sanchez-Luque, F. J., Ottersbach, K., De Bari, C., Roelofs, A. J., Tillotson, R., Kranc, K. R., Brown, S. J., Marioni, R. E., Crisan, M., Göttgens, B., Henderson, N. C., Semple, R. K., Myant, K. B., Dzierzak, E., Reijns, M. A. M., Sproul, D. & Jackson, A. P., Jul 2026, In: Nature Genetics. 58, 7, p. 1632-1642 11 p.

    Research output: Contribution to journal › Article › peer-review

    Open Access

  • A retrospective cohort study describing the disease burden in patients with Pompe disease treated with enzyme replacement therapy in the United States

    Pillai, N. R., Solomon, F., Steiner, R. D., Xie, B., Haselkorn, T., Young, C., Rozario, N., Walzer, M. & Schoser, B., May 1 2026, In: Journal of Neuromuscular Diseases. 13, 3, p. 362-372 11 p.

    Research output: Contribution to journal › Article › peer-review

    Open Access
    1   Link opens in a new tab Scopus citations

  • Beyond Detection: Comparing State-Based Newborn Screening Methods for Effective Mucopolysaccharidosis I Diagnosis

    Thampy, R., Pillai, N. R., Evans, M., Whitley, C. B., Orchard, P. J., Ellinwood, M. & Gaviglio, A., Mar 2026, In: International Journal of Neonatal Screening. 12, 1, 15.

    Research output: Contribution to journal › Article › peer-review

    Open Access

  • Central nervous system biomarkers in Fabry disease: Mechanisms, clinical evidence, and translational integration

    Casazza, K., Pillai, N. & Jarnes, J. R., Sep 1 2026, In: Molecular Genetics and Metabolism. 149, 1-2, 110236.

    Research output: Contribution to journal › Review article › peer-review

  • Delineating the clinical and molecular spectrum of the neurodevelopmental disorder associated with SET

    Shi, Y., Silva, A., Debuy, C., Ghosh, S., McConkey, H., Schot, R., Deng, R., Nikoncuk, A., van Slegtenhorst, M., Hoefsloot, L. H., van Ham, T. J., Simpson, B. N., Miller, D., Pillai, N. R., Holder-Espinasse, M., Almoguera, B., Blanco-Kelly, F., Clowes, V., Yoon, G. & Monteleone, B. & 39 others, Vasquez, J., Pérez de la Fuente, R., Bellido-Cuéllar, S., Barrios-Machain, U., Moreno-Sáez, Y., Steindl, K., Begemann, A., Rauch, A., Busa, T., Gorokhova, S., Lakhani, S., Grinspan, Z., Garde, A., Mau Them, F. T., Bruel, A. L., Delanne, J., Safraou, H., Colin, E., Parikh, A. S., Slavotinek, A., Devine, P., Shillington, A., Sorlin, A., Menzies, D., Mehta, L., Close, C., Heid, C., Ahmed, S. A., Gomes, A., Bird, L. M., Aref-Eshghi, E., Cardona-Londoño, K. J., Arold, S. T., Li, J. M., Hsieh, T. C., Kleefstra, T., Lanko, K., Sadikovic, B. & Barakat, T. S., Sep 2026, In: Genetics in Medicine. 28, 9, 102637.

    Research output: Contribution to journal › Article › peer-review

    Open Access
View all 35 Research outputs