Research output per year
Research output per year
Personal profile
Clinical interests
Disorders of sex development, congenital anomalies, developmental delay, family history of genetic disorders
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Dive into the research topics where Jennifer Heeley is active. These topic labels come from the works of this person and are generated automatically. Together they form a unique fingerprint. Contact the Profiles team with questions.
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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
Research output
- 14 Article
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Reference Growth Charts for Children With 47,XXY/Klinefelter Syndrome
Davis, S. M., Marshall, T. E., Swenson, K. S., Bothwell, S., Nokoff, N. J., Middleton, A., Furniss, A., Alkhdour, M., Christakis, D. A., Elliott, V. A., Heeley, J., Ikomi, C., Ross, J., Stone, S. I., Vogiatzi, M. G. & Tartaglia, N. R., Dec 2025, In: Pediatrics. 156, 6, e2025072193.Research output: Contribution to journal › Article › peer-review
Open Access -
Genetics and Primary Care: Raising Awareness and Enhancing Cooperation
Bengur, E. T. & Heeley, J., Jul 1 2024, In: Missouri Medicine. 121, 4, p. 277-283 7 p.Research output: Contribution to journal › Article › peer-review
1 Link opens in a new tab Scopus citations -
TELO2-related syndrome (You-Hoover-Fong syndrome): Description of 14 new affected individuals and review of the literature
Albokhari, D., Pritchard, A. B., Beil, A., Muss, C., Bupp, C., Grange, D. K., Delplancq, G., Heeley, J., Zuteck, M., Morrow, M. M., Kuentz, P., Palculict, T. B. & Hoover-Fong, J. E., May 2023, In: American Journal of Medical Genetics, Part A. 191, 5, p. 1261-1272 12 p.Research output: Contribution to journal › Article › peer-review
Open Access10 Link opens in a new tab Scopus citations -
De Novo KAT5 Variants Cause a Syndrome with Recognizable Facial Dysmorphisms, Cerebellar Atrophy, Sleep Disturbance, and Epilepsy
Humbert, J., Salian, S., Makrythanasis, P., Lemire, G., Rousseau, J., Ehresmann, S., Garcia, T., Alasiri, R., Bottani, A., Hanquinet, S., Beaver, E., Heeley, J., Smith, A. C. M., Berger, S. I., Antonarakis, S. E., Yang, X. J., Côté, J. & Campeau, P. M., Sep 3 2020, In: American journal of human genetics. 107, 3, p. 564-574 11 p.Research output: Contribution to journal › Article › peer-review
Open Access31 Link opens in a new tab Scopus citations -
Mobile element insertion detection in 89,874 clinical exomes
Torene, R. I., Galens, K., Liu, S., Arvai, K., Borroto, C., Scuffins, J., Zhang, Z., Friedman, B., Sroka, H., Heeley, J., Beaver, E., Clarke, L., Neil, S., Walia, J., Hull, D., Juusola, J. & Retterer, K., May 1 2020, In: Genetics in Medicine. 22, 5, p. 974-978 5 p.Research output: Contribution to journal › Article › peer-review
Open Access64 Link opens in a new tab Scopus citations