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Dive into the research topics where Reproductive Endocrinology, Infertility and Genetics is active. These topic labels come from the works of this organization's members. Together they form a unique fingerprint.
Collaborations and top research areas from the last five years
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Profiles
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Genetics of Mullerian Development
Layman, L. C. (PI)
National Institute of Child Health and Human Development
9/13/18 → 6/30/23
Project: Research project
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Dual functions of WDR11 in the pathogenesis of hypogonadotrophic hypogonadism
Layman, L. C. (CoPI) & Kim, S. H. (PI)
7/1/14 → 2/28/18
Project: Research project
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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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Novel Digital Anomalies, Hippocampal Atrophy, and Mutations Expand the Genotypic and Phenotypic Spectra of CNKSR2 in the Houge Type of X-Linked Syndromic Intellectual Development Disorder (MRXSHG)
Ghasemi, M. R., Fateh, S. T., Ben-Mahmoud, A., Gupta, V., Stühn, L. G., Lesca, G., Chatron, N., Platzer, K., Edery, P., Sadeghi, H., Isidor, B., Cogné, B., Schulz, H. L., Krauspe-Stübecke, I., Periyasamy, R., Nampoothiri, S., Mirfakhraie, R., Alijanpour, S., Syrbe, S. & Pfeifer, U. & 15 others, , May 2025, In: American Journal of Medical Genetics, Part A. 197, 5, e63963.Research output: Contribution to journal › Article › peer-review
Open Access -
The prevalence of pathogenic variants in medically actionable genes among individuals with idiopathic hypogonadotropic hypogonadism/Kallmann syndrome
Kwal, J. M., Chorich, L. P., Navitski, A., Hawkins, Z., Grater, L., Taylor, H. S., Kim, H. G. & Layman, L. C., 2025, (Accepted/In press) In: Journal of Assisted Reproduction and Genetics.Research output: Contribution to journal › Article › peer-review