Subhadra Ramanathan, MSc, MS, CGC

Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a severe developmental disorder spectrum

Calame, D. G., Wong, J. H., Panda, P., Nguyen, D. T., Leong, N. C. P., Sangermano, R., Patankar, S. G., Abdel-Hamid, M. S., AlAbdi, L., Safwat, S., Flannery, K. P., Dardas, Z., Fatih, J. M., Murali, C., Kannan, V., Lotze, T. E., Herman, I., Ammouri, F., Rezich, B. & Efthymiou, S. & 47 others, Alavi, S., Murphy, D., Firoozfar, Z., Nasab, M. E., Bahreini, A., Ghasemi, M., Haridy, N. A., Goldouzi, H. R., Eghbal, F., Karimiani, E. G., Begtrup, A., Elloumi, H., Srinivasan, V. M., Gowda, V. K., Du, H., Jhangiani, S. N., Coban-Akdemir, Z., Marafi, D., Rodan, L., Isikay, S., Rosenfeld, J. A., Ramanathan, S., Staton, M., Oberg, K. C., Clark, R. D., Wenman, C., Loughlin, S., Saad, R., Ashraf, T., Male, A., Tadros, S., Boostani, R., Abdel-Salam, G. M. H., Zaki, M., Mardi, A., Hashemi-Gorji, F., Abdalla, E., Manzini, M. C., Pehlivan, D., Posey, J. E., Gibbs, R. A., Houlden, H., Alkuraya, F. S., Bujakowska, K., Maroofian, R., Lupski, J. R. & Nguyen, L. N., Jan 2025, In: Genetics in Medicine. 27, 1, 101273.

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

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

Genetics Corner: A Consultation for Familial Polysyndactyly

Ramanathan, S. & Clark, R. D., Jun 2024, In: Neonatology Today. 19, 6, p. 171-174 4 p.

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

Genetics Corner: A Consultation for Joint Limitations that Developed After Birth

Ramanathan, S., Wang, H. & Clark, R. D., Jul 2024, In: Neonatology Today. 19, 7, p. 178-182 5 p.

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

Genetics Corner: PHOX2B-Associated Congenital Central Hypoventilation Syndrome in a 2-Year-Old Male with Autism

Clark, R. D. & Ramanathan, S., Dec 2024, In: Neonatology Today. 19, 12, p. 185-187 3 p.

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