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Collaborations and top research areas from the last five years
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Enhancement of Newborn Screening Diagnostic Paradigms to Improve the Efficacy of Treatment for Krabbe Disease, Pompe Disease, and Mucopolysaccharidosis Type 1
Langan, T. (PI), Langan, T. (PI), Galvin-Parton, P. (CoI) & Pellegrino, J. (CoI)
Eunice Kennedy Shriver National Institute of Child Health & Human Dev
03/18/22 → 02/28/27
University at Buffalo, Upstate Medical University
Project: Research
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Genetic Disease Screening Institutional Support
Pellegrino, J. (PI)
10/1/20 → 09/30/21
Project: Research
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A diagnosis of Birt–Hogg–Dubé syndrome in individuals with Smith–Magenis syndrome: Recommendation for cancer screening
Vocke, C. D., Fleming, L. R., Piskorski, A. M., Amin, A., Phornphutkul, C., de la Monte, S., Vilboux, T., Duncan, F., Pellegrino, J., Braddock, B., Middelton, L. A., Schmidt, L. S., Merino, M. J., Cowen, E. W., Introne, W. J., Linehan, W. M. & Smith, A. C. M., Feb 2023, In: American Journal of Medical Genetics, Part A. 191, 2, p. 490-497 8 p.Research output: Contribution to journal › Article › peer-review
Open Access10 Scopus citations -
Low psychosine in Krabbe disease with onset in late infancy: A case report
Corre, C. S., Matern, D., Pellegrino, J. E., Saavedra-Matiz, C. A., Orsini, J. J. & Thompson-Stone, R., Jun 2021, In: International Journal of Neonatal Screening. 7, 2, 28.Research output: Contribution to journal › Article › peer-review
Open Access5 Scopus citations -
The critical role of psychosine in screening, diagnosis, and monitoring of Krabbe disease
Guenzel, A. J., Turgeon, C. T., Nickander, K. K., White, A. L., Peck, D. S., Pino, G. B., Studinski, A. L., Prasad, V. K., Kurtzberg, J., Escolar, M. L., Lasio, M. L. D., Pellegrino, J. E., Sakonju, A., Hickey, R. E., Shallow, N. M., Ream, M. A., Orsini, J. J., Gelb, M. H., Raymond, K. & Gavrilov, D. K. & 4 others, , Jun 1 2020, In: Genetics in Medicine. 22, 6, p. 1108-1118 11 p.Research output: Contribution to journal › Article › peer-review
Open Access61 Scopus citations -
Clinical outcomes of children with abnormal newborn screening results for Krabbe disease in New York State
Wasserstein, M. P., Andriola, M., Arnold, G., Aron, A., Duffner, P., Erbe, R. W., Escolar, M. L., Estrella, L., Galvin-Parton, P., Iglesias, A., Kay, D. M., Kronn, D. F., Kurtzberg, J., Kwon, J. M., Langan, T. J., Levy, P. A., Naidich, T. P., Orsini, J. J., Pellegrino, J. E. & Provenzale, J. M. & 2 others, , Dec 1 2016, In: Genetics in Medicine. 18, 12, p. 1235-1243 9 p.Stony Brook University, Upstate Medical University, University at Buffalo
Research output: Contribution to journal › Article › peer-review
Open Access87 Scopus citations -
Newborn screening for Krabbe disease in New York State: The first eight years' experience
Orsini, J. J., Kay, D. M., Saavedra-Matiz, C. A., Wenger, D. A., Duffner, P. K., Erbe, R. W., Biski, C., Martin, M., Krein, L. M., Nichols, M., Kurtzberg, J., Escolar, M. L., Adams, D. J., Arnold, G. L., Iglesias, A., Galvin-Parton, P., Kronn, D. F., Kwon, J. M., Levy, P. A. & Pellegrino, J. E. & 3 others, , Mar 1 2016, In: Genetics in Medicine. 18, 3, p. 239-248 10 p.Stony Brook University, University at Buffalo, Upstate Medical University
Research output: Contribution to journal › Article › peer-review
Open Access95 Scopus citations