June-Anne Gold, MBBS

Pathogenic XPO1 variants cause a dominant neurodevelopmental disorder

van Oirsouw, A. S. E., Nedbalova, P., Hancarova, M., Prchal, J., Prchalova, D., Vlckova, M., Bendova, S., Monaghan, K. G., Dyer, L. M., Chen, Y., Carere, D. A., te Bogt, E. A. M., Fisher, H., Scheuerle, A. E., Riley, S., Jain, M., Mu, W., Bodurtha, J. N., van Eerde, A. M. & Stokman, M. F. & 59 others, Longo, N., Balasubramanian, M., Spiller, M., Costain, G., von der Lippe, C., Tveten, K., Jortveit, M., Holla, Ø. L., Isidor, B., Cogné, B., Glinton, K. E., Vuocolo, B., Sierra, R. A., Angle, B., Bontempo, K., Koop, K., Rabin, R., Pappas, J., Staffenberg, D. A., Joset, P., Miny, P., Filges, I., Alali, A., Vitalone, K., Rosenfeld, J. A., Bi, W., Bradbrook, S., Perrier, R., Ramanathan, S., Gold, J. A., Palomares Bralo, M., Ángeles Gómez-Cano, M., Olney, A. H., Nielsen, S., Ziegler, A., Bonneau, D., Prouteau, C., Bruel, A. L., Caille-Benigni, C., Lambert, L., Yu, A. C., Robin, N. H., Goodloe, D., Fischer, J., Porrmann, J., Hennig, Y. D., Abou Jamra, R., Herman, I., Johnson, I. R., Hérissant, L., Jouret, G., van Gassen, K. L. I., van Binsbergen, E., van der Zwaag, B., Kamermans, A., Oegema, R., Sedlacek, Z., Fenckova, M. & van Jaarsveld, R. H., Nov 2025, In: Genetics in Medicine. 27, 11, 101555.

Research output: Contribution to journal › Article › peer-review

Relationship of thyroid function with genetic subtypes and treatment with growth hormone in Prader–Willi syndrome

Schmok, T., Surampalli, A., Khare, M., Zandihaghighi, S., Baghbaninogourani, R., Patolia, B., Gold, J. A., Naidu, A., Cassidy, S. B. & Kimonis, V. E., Oct 2024, In: American Journal of Medical Genetics, Part A. 194, 10, e63724.

Research output: Contribution to journal › Article › peer-review

Genetic Corner: Two Different Unbalanced Translocations of 15q and 21q in Dizygotic Twins Presenting with Differing Phenotypes

Mueller, A., Muchmore, S. & Gold, J. A., Aug 2023, In: Neonatology Today. 18, 8, p. 149-155 7 p.

Research output: Contribution to journal › Article › peer-review

Molecular Classes and Growth Hormone Treatment Effects on Behavior and Emotion in Patients with Prader–Willi Syndrome

Mahmoud, R., Swanson, H. D., Butler, M. G., Flodman, P., Gold, J. A., Miller, J. L., Roof, E., Osann, K., Dykens, E., Driscoll, D. J. & Kimonis, V., May 1 2022, In: Journal of Clinical Medicine. 11, 9, 2572.

Research output: Contribution to journal › Article › peer-review

Evaluating Sleep Disturbances in Children With Rare Genetic Neurodevelopmental Syndromes

Veatch, O. J., Malow, B. A., Lee, H. S., Knight, A., Barrish, J. O., Neul, J. L., Lane, J. B., Skinner, S. A., Kaufmann, W. E., Miller, J. L., Driscoll, D. J., Bird, L. M., Butler, M. G., Dykens, E. M., Gold, J. A., Kimonis, V., Bacino, C. A., Tan, W. H., Kothare, S. V. & Peters, S. U. & 2 others, Percy, A. K. & Glaze, D. G., Oct 2021, In: Pediatric Neurology. 123, p. 30-37 8 p.

Research output: Contribution to journal › Article › peer-review