Pediatric - Genetics Division

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  • 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

  • PLS3 missense variants affecting the actin-binding domains cause X-linked congenital diaphragmatic hernia and body-wall defects

    Petit, F., Longoni, M., Wells, J., Maser, R. S., Bogenschutz, E. L., Dysart, M. J., Contreras, H. T. M., Frénois, F., Pober, B. R., Clark, R. D., Giampietro, P. F., Ropers, H. H., Hu, H., Loscertales, M., Wagner, R., Ai, X., Brand, H., Jourdain, A. S., Delrue, M. A., Gilbert-Dussardier, B., & 19 othersDevisme, L., Keren, B., McCulley, D. J., Qiao, L., Hernan, R., Wynn, J., Scott, T. M., Calame, D. G., Coban-Akdemir, Z., Hernandez, P., Hernandez-Garcia, A., Yonath, H., Lupski, J. R., Shen, Y., Chung, W. K., Scott, D. A., Bult, C. J., Donahoe, P. K. & High, F. A., Oct 5 2023, In: American Journal of Human Genetics. 110, 10, p. 1787-1803 17 p.

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

    Open Access
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