Subhadra Ramanathan, MS

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 othersRentas, 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 othersBakhtiari, 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

O'Donnell-Luria-Rodan syndrome: description of a second multinational cohort and refinement of the phenotypic spectrum

Velmans, C., O'Donnell-Luria, A. H., Argilli, E., Tran Mau-Them, F., Vitobello, A., Chan, M. C. Y., Fung, J. L. F., Rech, M., Abicht, A., Aubert Mucca, M., Carmichael, J., Chassaing, N., Clark, R., Coubes, C., Denommé-Pichon, A. S., De Dios, J. K., England, E., Funalot, B., Gerard, M., Joseph, M., & 19 othersKennedy, C., Kumps, C., Willems, M., Van De Laar, I. M. B. H., Aarts-Tesselaar, C., Van Slegtenhorst, M., Lehalle, D., Leppig, K., Lessmeier, L., Pais, L. S., Paterson, H., Ramanathan, S., Rodan, L. H., Superti-Furga, A., Chung, B. H. Y., Sherr, E., Netzer, C., Schaaf, C. P. & Erger, F., Jul 1 2022, In: Journal of Medical Genetics. 59, 7, p. 697-705 9 p.

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

CHEDDA syndrome is an underrecognized neurodevelopmental disorder with a highly restricted ATN1 mutation spectrum

Palmer, E. E., Whitton, C., Hashem, M. O., Clark, R. D., Ramanathan, S., Starr, L. J., Velasco, D., De Dios, J. K., Singh, E., Cormier-Daire, V., Chopra, M., Rodan, L. H., Nellaker, C., Lakhani, S., Mallack, E. J., Panzer, K., Sidhu, A., Wentzensen, I. M., Lacombe, D., Michaud, V., & 1 othersAlkuraya, F. S., Oct 2021, In: Clinical Genetics. 100, 4, p. 468-477 10 p.

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

Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms

Yabumoto, M., Kianmahd, J., Singh, M., Palafox, M. F., Wei, A., Elliott, K., Goodloe, D. H., Dean, S. J., Gooch, C., Murray, B. K., Swartz, E., Schrier Vergano, S. A., Towne, M. C., Nugent, K., Roeder, E. R., Kresge, C., Pletcher, B. A., Grand, K., Graham, J. M., Gates, R., & 25 othersGomez-Ospina, N., Ramanathan, S., Clark, R. D., Glaser, K., Benke, P. J., Cohen, J. S., Fatemi, A., Mu, W., Baranano, K. W., Madden, J. A., Gubbels, C. S., Yu, T. W., Agrawal, P. B., Chambers, M. K., Phornphutkul, C., Pugh, J. A., Tauber, K. A., Azova, S., Smith, J. R., O’Donnell-Luria, A., Medsker, H., Srivastava, S., Krakow, D., Schweitzer, D. N. & Arboleda, V. A., Oct 2021, In: Molecular Genetics and Genomic Medicine. 9, 10, e1809.

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