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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
Recent external collaboration on country/territory level. Dive into details by clicking on the dots or
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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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Chemokine Signaling Defects in Human Immunodeficiency
Diaz, G. (PI)
National Institute of Allergy and Infectious Diseases
09/15/04 → 02/28/09
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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Are asymptomatic carriers of OTC deficiency always asymptomatic? A multicentric retrospective study of risk using the UCDC longitudinal study database
Members of the Urea Cycle Disorders Consortium (UCDC), Apr 2024, In: Molecular Genetics and Genomic Medicine. 12, 4, e2443.Research output: Contribution to journal › Article › peer-review
Open Access -
Efficacy and safety of pegzilarginase in arginase 1 deficiency (PEACE): a phase 3, randomized, double-blind, placebo-controlled, multi-centre trial
PEACE Investigators, Feb 2024, In: eClinicalMedicine. 68, 102405.Research output: Contribution to journal › Article › peer-review
Open Access1 Scopus citations -
Evaluating parental personal utility of pediatric genetic and genomic testing in a diverse, multilingual population
Marathe, P. N., Suckiel, S. A., Bonini, K. E., Kelly, N. R., Scarimbolo, L., Insel, B. J., Odgis, J. A., Sebastin, M., Ramos, M. A., Di Biase, M., Gallagher, K. M., Brown, K., Rodriguez, J. E., Yelton, N., Aguiñiga, K. L., Rodriguez, M. A., Maria, E., Lopez, J., Zinberg, R. E. & Diaz, G. A. & 7 others, , Jul 18 2024, In: Human Genetics and Genomics Advances. 5, 3, 100321.Research output: Contribution to journal › Article › peer-review
Open Access -
Patient and Provider Experiences and Views on the Use of Telehealth in Genetics Clinics in Response to the COVID-19 Pandemic
Martinez, J. M., Zinberg, R. E., Diaz, G. A. & Naik, H., Jan 1 2024, In: Telemedicine and e-Health. 30, 1, p. 118-125 8 p.Research output: Contribution to journal › Article › peer-review
1 Scopus citations -
Severity-adjusted evaluation of liver transplantation on health outcomes in urea cycle disorders
Urea Cycle Disorders Consortium (UCDC) & European registry and network for Intoxication type Metabolic Diseases (E-IMD) Consortia Study Group, Apr 2024, In: Genetics in Medicine. 26, 4, 101039.Research output: Contribution to journal › Article › peer-review
Open Access1 Scopus citations