Robin D. Clark, MD

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

ANKLE2-related microcephaly: A variable microcephaly syndrome resembling Zika infection

Thomas, A. X., Link, N., Robak, L. A., Demmler-Harrison, G., Pao, E. C., Squire, A. E., Michels, S., Cohen, J. S., Comi, A., Prontera, P., Verrotti di Pianella, A., Di Cara, G., Garavelli, L., Caraffi, S. G., Fusco, C., Zuntini, R., Parks, K. C., Sherr, E. H., Hashem, M. O., Maddirevula, S., & 8 othersAlkuraya, F. S., Contractar, I. A. F., Neil, J. E., Walsh, C. A., Bellen, H. J., Chao, H. T., Clark, R. D. & Mirzaa, G. M., Aug 2022, In: Annals of Clinical and Translational Neurology. 9, 8, p. 1276-1288 13 p.

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

Delayed diagnosis and racial bias in children with genetic conditions

Omorodion, J., Dowsett, L., Clark, R. D., Fraser, J., Abu-El-Haija, A., Strong, A., Wojcik, M. H., Bryant, A. S. & Gold, N. B., Apr 2022, In: American Journal of Medical Genetics, Part A. 188, 4, p. 1118-1123 6 p.

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