Robin Clark, MD

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

Genetics Corner: A Premature Infant with Meconium Peritonitis Inspires an Update on the First Cases of In Utero Therapy for Meconium Ileus Due to Cystic Fibrosis

Clark, R. D., Jan 2024, In: Neonatology Today. 19, 1, p. 179-181 3 p.

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

Genetics Corner: COL4A1-Associated Brain Small Vessel Disease with or without Vascular Anomalies in an Infant with Schizencephaly and Congenital Intracranial Calcifications: A Genetic Disorder that can Mimic Congenital CMV Infection

Espinoza, G., Ly, A. T. & Clark, R. D., Sep 2024, In: Neonatology Today. 19, 9, p. 205-209 5 p.

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