Personal profile
Digital Commons disciplines
- Pediatrics
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):
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SDG 2 Zero Hunger -
SDG 3 Good Health and Well-being -
SDG 12 Responsible Consumption and Production
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Dive into the research topics where Bushra Afroze 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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l-2-Hydroxyglutarate impairs neuronal differentiation through epigenetic activation of MYC expression
Gu, W., Wang, X., Solmonson, A., Cai, L., Xiao, Y., Tasdogan, A., Franklin, J., Zhang, Y., Zhang, H., Westfall, A. K., Rowe, A., Trivedi, H., Faubert, B., Wu, Z., Sudderth, J., Zacharias, L. G., Afroze, B., Bezprozvanny, I., Sudarshan, S. & Cai, F. & 3 others, , 1 May 2026, In: Journal of Clinical Investigation. 136, 9Research output: Contribution to journal › Article › peer-review
Open Access -
Clinical experience of next generation sequencing based expanded carrier screening in high-risk couples from a tertiary healthcare center in Pakistan
Akbar, F., Kirmani, S., Qazi, M. F., Ali, N. M., Ali, Z. H. & Afroze, B., Jun 2025, In: Prenatal Diagnosis. 45, 7, p. 867-877 11 p.Research output: Contribution to journal › Article › peer-review
Open Access3 Citations (Scopus) -
Evaluation of the clinical, biochemical, and molecular spectrum of Cobalamin C (CblC) defect in 33 patients from Pakistan
Ahmed, S., Cai, L., Akbar, F., Siddiqui, A., DeBerardinis, R. J., Ni, M., Vu, H. & Afroze, B., 2024, In: Scandinavian Journal of Clinical and Laboratory Investigation. 84, 6, p. 391-397 7 p.Research output: Contribution to journal › Article › peer-review
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Evaluation of the clinical, biochemical, and genetic presentation of neonatal and adult-onset 5,10-methylene tetrahydrofolate reductase (MTHFR) deficiency in patients from Pakistan
Ahmed, S., Akbar, F., Deberardinis, R. J., Ni, M. & Afroze, B., 1 Aug 2023, In: Journal of Pediatric Endocrinology and Metabolism. 36, 8, p. 761-771 11 p.Research output: Contribution to journal › Article › peer-review
2 Citations (Scopus) -
Experience in prenatal genetic testing and reproductive decision-making for monogenic disorders from a single tertiary care genetics clinic in a low-middle income country
Hanif, A., Akbar, F., Kirmani, S., Jaffarali, A., Zainab, G., Malik, A., Ansar, Z. & Afroze, B., Dec 2023, In: BMC Pregnancy and Childbirth. 23, 1, 431.Research output: Contribution to journal › Article › peer-review
Open Access7 Citations (Scopus)