Moreno Traspas, R., Teoh, T.S., Wong, P.M., Maier, M., Chia, C.Y., Lay, K., Ali, N.A., Larson, A., Al Mutairi, F., Al-Sannaa, N.A., Faqeih, E.A., Alfadhel, M., Cheema, H.A., Dupont, J., Bézieau, S., Isidor, B., Low, D.Y., Wang, Y., Tan, G., Lai, P.S., Piloquet, H., Joubert, M., Kayserili, H., Kripps, K.A., Nahas, S.A., Wartchow, E.P., Warren, M., Bhavani, G.S., Dasouki, M., Sandoval, R., Carvalho, E., Ramos, L., Porta, G., Wu, B., Lashkari, H.P., AlSaleem, B., BaAbbad, R.M., Abreu Ferrão, A.N., Karageorgou, V., Ordonez-Herrera, N., Khan, S., Bauer, P., Cogne, B., Bertoli-Avella, A.M., Vincent, M., Girisha, K.M., Reversade, B. (2022) Loss of FOCAD, operating via the SKI messenger RNA surveillance pathway, causes a pediatric syndrome with liver cirrhosis. Nature Genetics. 54(8):1214-1226

Moreno Traspas, R., Teoh, T.S., Wong, P.M., Maier, M., Chia, C.Y., Lay, K., Ali, N.A., Larson, A., Al Mutairi, F., Al-Sannaa, N.A., Faqeih, E.A., Alfadhel, M., Cheema, H.A., Dupont, J., Bézieau, S., Isidor, B., Low, D.Y., Wang, Y., Tan, G., Lai, P.S., Piloquet, H., Joubert, M., Kayserili, H., Kripps, K.A., Nahas, S.A., Wartchow, E.P., Warren, M., Bhavani, G.S., Dasouki, M., Sandoval, R., Carvalho, E., Ramos, L., Porta, G., Wu, B., Lashkari, H.P., AlSaleem, B., BaAbbad, R.M., Abreu Ferrão, A.N., Karageorgou, V., Ordonez-Herrera, N., Khan, S., Bauer, P., Cogne, B., Bertoli-Avella, A.M., Vincent, M., Girisha, K.M., Reversade, B. (2022) Loss of FOCAD, operating via the SKI messenger RNA surveillance pathway, causes a pediatric syndrome with liver cirrhosis. Nature Genetics. 54(8):1214-1226