Personal profile
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 3 Good Health and Well-being
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Dive into the research topics where Soumia Brakta 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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Mosaic variants in the LIM homeobox 1 (LHX1) gene contribute to Mayer–Rokitansky–Küster–Hauser (MRKH) syndrome
Kira, D., Brakta, S., Kim, H. G., Butler, J., Chorich, L. P., Phillips, J. A. & Layman, L. C., Dec 2026, In: Human Genetics. 145, 1, 18.Research output: Contribution to journal › Article › peer-review
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Heterozygous ZNHIT3 variants within the 17q12 recurrent deletion region are associated with Mayer-Rokitansky-Kuster Hauser (MRKH) syndrome
Brakta, S., Du, Q., Chorich, L. P., Hawkins, Z. A., Sullivan, M. E., Ko, E. K., Kim, H. G., Knight, J., Taylor, H. S., Friez, M., Phillips, J. A. & Layman, L. C., Aug 1 2024, In: Molecular and Cellular Endocrinology. 589, 112237.Research output: Contribution to journal › Article › peer-review
4 Link opens in a new tab Scopus citations -
Rare structural variants, aneuploidies, and mosaicism in individuals with Mullerian aplasia detected by optical genome mapping
Brakta, S., Hawkins, Z. A., Sahajpal, N., Seman, N., Kira, D., Chorich, L. P., Kim, H. G., Xu, H., Phillips, J. A., Kolhe, R. & Layman, L. C., Apr 2023, In: Human Genetics. 142, 4, p. 483-494 12 p.Research output: Contribution to journal › Article › peer-review
10 Link opens in a new tab Scopus citations -
Unexplained Female Infertility Associated with Genetic Disease Variants.
Dougherty, M. P., Poch, A. M., Chorich, L. P., Hawkins, Z. A., Xu, H., Roman, R. A., Liu, H., Brakta, S., Taylor, H. S., Knight, J., Kim, H. G., Diamond, M. P. & Layman, L. C., 2023, In: New England Journal of Medicine. 388, 11, p. 1055-1056 2 p.Research output: Contribution to journal › Letter › peer-review
Open Access18 Link opens in a new tab Scopus citations -
Long-term follow-up and treatment of a female with complete estrogen insensitivity
Brakta, S., Chorich, L. P., Kimt, H. G., Coons, L. A., Katzenellenbogen, J. A., Hall, J. E., Korach, K. S. & Layman, L. C., May 1 2020, In: Journal of Clinical Endocrinology and Metabolism. 105, 5, dgaa106.Research output: Contribution to journal › Article › peer-review
Open Access5 Link opens in a new tab Scopus citations