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

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

Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype–phenotype correlations and common mechanisms

Kaur, M., Blair, J., Devkota, B., Fortunato, S., Clark, D., Lawrence, A., Kim, J., Do, W., Semeo, B., Katz, O., Mehta, D., Yamamoto, N., Schindler, E., Al Rawi, Z., Wallace, N., Wilde, J. J., McCallum, J., Liu, J., Xu, D. & Jackson, M. & 77 others, Rentas, S., Tayoun, A. A., Zhe, Z., Abdul-Rahman, O., Allen, B., Angula, M. A., Anyane-Yeboa, K., Argente, J., Arn, P. H., Armstrong, L., Basel-Salmon, L., Baynam, G., Bird, L. M., Bruegger, D., Ch'ng, G. S., Chitayat, D., Clark, R., Cox, G. F., Dave, U., DeBaere, E., Field, M., Graham, J. M., Gripp, K. W., Greenstein, R., Gupta, N., Heidenreich, R., Hoffman, J., Hopkin, R. J., Jones, K. L., Jones, M. C., Kariminejad, A., Kogan, J., Lace, B., Leroy, J., Lynch, S. A., McDonald, M., Meagher, K., Mendelsohn, N., Micule, I., Moeschler, J., Nampoothiri, S., Ohashi, K., Powell, C. M., Ramanathan, S., Raskin, S., Roeder, E., Rio, M., Rope, A. F., Sangha, K., Scheuerle, A. E., Schneider, A., Shalev, S., Siu, V., Smith, R., Stevens, C., Tkemaladze, T., Toimie, J., Toriello, H., Turner, A., Wheeler, P. G., White, S. M., Young, T., Loomes, K. M., Pipan, M., Harrington, A. T., Zackai, E., Rajagopalan, R., Conlin, L., Deardorff, M. A., McEldrew, D., Pie, J., Ramos, F., Musio, A., Kline, A. D., Izumi, K., Raible, S. E. & Krantz, I. D., Aug 2023, In: American Journal of Medical Genetics, Part A. 191, 8, p. 2113-2131 19 p.

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

Genotype-phenotype correlations in RHOBTB2-associated neurodevelopmental disorders

Langhammer, F., Maroofian, R., Badar, R., Gregor, A., Rochman, M., Ratliff, J. B., Koopmans, M., Herget, T., Hempel, M., Kortüm, F., Heron, D., Mignot, C., Keren, B., Brooks, S., Botti, C., Ben-Zeev, B., Argilli, E., Sherr, E. H., Gowda, V. K. & Srinivasan, V. M. & 44 others, Bakhtiari, S., Kruer, M. C., Salih, M. A., Kuechler, A., Muller, E. A., Blocker, K., Kuismin, O., Park, K. L., Kochhar, A., Brown, K., Ramanathan, S., Clark, R. D., Elgizouli, M., Melikishvili, G., Tabatadze, N., Stark, Z., Mirzaa, G. M., Ong, J., Grasshoff, U., Bevot, A., von Wintzingerode, L., Jamra, R. A., Hennig, Y., Goldenberg, P., Al Alam, C., Charif, M., Boulouiz, R., Bellaoui, M., Amrani, R., Al Mutairi, F., Tamim, A. M., Abdulwahab, F., Alkuraya, F. S., Khouj, E. M., Alvi, J. R., Sultan, T., Hashemi, N., Karimiani, E. G., Ashrafzadeh, F., Imannezhad, S., Efthymiou, S., Houlden, H., Sticht, H. & Zweier, C., Aug 2023, In: Genetics in Medicine. 25, 8, 100885.

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