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Dive into the research topics where George Diaz is active. These topic labels come from the works of this person. Together they form a unique fingerprint.
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Collaborations and top research areas from the last five years
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Study the Cellular Functions of Tubulin Chaperone E
Parvari, R. (PI) & Diaz, G. (CoPI)
01/1/05 → …
Project: Research
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Study the Cellular Functions of Tubulin Chaperone E
Parvari, R. (PI) & Diaz, G. (CoPI)
United States-Israel Binational Science Foundation
01/1/05 → …
Project: Research
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Using electronic medical record data to shorten diagnostic odysseys for rare genetic disorders in children and adults in two New York City health care settings
Gelb, B. D. (PI), Diaz, G. (CoPI), Balwani, M. M. (CoPI) & Chen, R. (CoPI)
National Center for Advancing Translational Sciences
02/1/22 → 01/31/24
Project: Research
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LONGITUDINAL STUDY OF UREA CYCLE DISORDERS
Diaz, G. (PI)
National Center for Research Resources
03/1/09 → 07/31/09
Project: Research
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Cellular and Molecular Defects in Human B Cell Development
Cunningham-Rundles, C. (PI), Cerutti, A. (CoPI), Casanova, J. L. (CoPI), Furtado, G. C. (CoPI), Diaz, G. (CoPI), Mayer, L. F. (CoPI), Meffre, E. (CoPI) & Cortes, P. P. (CoPI)
09/15/04 → 07/31/22
Project: Research
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Characterizing the frequency of clinical events and assessing biomarkers in propionic acidemia: a natural history study
Schwahn, B. C., Berry, G. T., Vernon, H. J., Li, H., Merritt, J. L., Schiff, M., Chabrol, B., De las Heras, J., Vockley, J., Lee, C., Koeberl, D. D., Burton, B. K., Grunewald, S., Diaz, G. A., Ficicioglu, C., Morgan, T., Luo, J., Attarwala, H., Liang, M. & Perera, S. & 1 others, , Dec 2026, In: Orphanet Journal of Rare Diseases. 21, 1, 152.Research output: Contribution to journal › Article › peer-review
Open Access1 Scopus citations -
Benefits of early intervention with olipudase alfa in symptomatic children with acid sphingomyelinase deficiency: A sibling case-comparison study
Sinha, D. B., Simpson, W. L., Ting, A., Bier, L., Freeman, M., Mason, L. M., Diaz, G. A. & Ganesh, J., Jun 2025, In: Molecular Genetics and Metabolism Reports. 43, 101210.Research output: Contribution to journal › Article › peer-review
Open Access2 Scopus citations -
Investigating the Impact of Screen-Sharing Visual Aids during Genomic Results Disclosure via Telehealth in Diverse Families in the TeleKidSeq Pilot Study
Odgis, J. A., Kelly, N. R., Sebastin, M., Golfinopoulos, L., Insel, B. J., Suckiel, S. A., Bonini, K. E., Marathe, P. N., Di Biase, M., Brown, K., Gallagher, K. M., Ramos, M. A., Rodriguez, J. E., Yelton, N., López Aguiñiga, K., Rodriguez, M. A., María, E., Lopez, J., Zinberg, R. E. & Diaz, G. A. & 7 others, , Jan 17 2025, In: Public health genomics. 28, 1, p. 85-101 17 p.Research output: Contribution to journal › Article › peer-review
Open Access3 Scopus citations -
Long-Term Safety and Clinical Outcomes With Olipudase Alfa Enzyme Replacement Therapy in Children and Adolescents With Acid Sphingomyelinase Deficiency
Scarpa, M., Diaz, G. A., Giugliani, R., Jones, S. A., Mengel, E., Guffon, N., Witters, P., Ganesh, J., Armstrong, N. M., Srivastava, S. & Kim, Y., Sep 2025, In: Journal of Inherited Metabolic Disease. 48, 5, e70086.Research output: Contribution to journal › Article › peer-review
Open Access3 Scopus citations -
Patient and providers’ perspectives on using the GUÍA digital tool to enhance genomic results disclosure
Odgis, J. A., Suckiel, S. A., Golfinopoulos, L., Kelly, N. R., Bonini, K. E., Marathe, P. N., Gallagher, K. M., Sebastin, M., Di Biase, M., Brown, K., Ramos, M. A., Zinberg, R. E., Diaz, G. A., Greally, J. M., Abul-Husn, N. S., Bauman, L. J., Gelb, B. D., Horowitz, C. R., Wasserstein, M. P. & Kenny, E. E., Jan 2025, In: Genetics in Medicine Open. 3, 103451.Research output: Contribution to journal › Article › peer-review
Open Access1 Scopus citations