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. Together they form a unique fingerprint.
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Collaborations and top research areas from the last five years
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Research output
- 12 Article
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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 Access5 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 Access16 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 Access45 Scopus citations -
Clinical and genetic characterization of individuals with predicted deleterious PHIP variants
Craddock, K. E., Okur, V., Wilson, A., Gerkes, E. H., Ramsey, K., Heeley, J. M., Juusola, J., Vitobello, A., Dupeyron, M. N. B., Faivre, L. & Chung, W. K., 2019, In: Cold Spring Harbor molecular case studies. 5, 4, a004200.Research output: Contribution to journal › Article › peer-review
Open Access17 Scopus citations -
Missense variants in the chromatin remodeler CHD1 are associated with neurodevelopmental disability
Pilarowski, G. O., Vernon, H. J., Applegate, C. D., Boukas, L., Cho, M. T., Gurnett, C. A., Benke, P. J., Beaver, E., Heeley, J. M., Medne, L., Krantz, I. D., Azage, M., Niyazov, D., Henderson, L. B., Wentzensen, I. M., Baskin, B., Sacoto, M. J. G., Bowman, G. D. & Bjornsson, H. T., Aug 1 2018, In: Journal of Medical Genetics. 55, 8, p. 561-566 6 p.Research output: Contribution to journal › Article › peer-review
Open Access42 Scopus citations