Identification and validation of candidate risk genes in endocytic vesicular trafficking associated with esophageal atresia and tracheoesophageal fistulas

by Ahimaz, P., Chung, W.K, Edwards, N.A, El Fiky, M., Faure, C., Fialkowski, E., Forlenza, S., Hagen, J.J, Kashyap, A., Kenny, A.P, Khlevner, J., Kingma, P., Lu, Q., Middlesworth, W., Schindel, D., Shen, Y., Zhong, G., Zorn, A.M
Published 2022

Radiological findings of partial expression pentalogy of Cantrell and other multiple congenital anomalies: A rare case report

by Sensusiati, A.D, Sulistyowati, R.
Published 2022

Damaging novel mutations in PIGN cause developmental epileptic-dyskinetic encephalopathy: a case report

by Chen, J., Lei, W., Li, J., Pan, H., Shu, X., Tian, M.
Published 2022

Genetic Analysis Algorithm for the Study of Patients with Multiple Congenital Anomalies and Isolated Congenital Heart Disease

by Barbero, P., Berenstein, A., Bidondo, M.P, Brun, P., Bruque, C.D, Cosentino, V., Dain, L., Delea, M., Espeche, L.D, Fabro, M., Fernández, C.S, Furforo, L., Galain, M., Groisman, B., Izquierdo, A., Kolomenski, J.E, Liascovich, R., Martinoli, C., Massara, L.S, Mendez, R., Oliveri, J., on behalf of the PID ACM-CC Group, Rittler, M., Rozental, S., Taboas, M., Vilas, M.
Published 2022

Massive intrapericardial cyst: A rare cause of chronic cough

by Kasim, S., Raja Shariff, R.E.F
Published 2020

Reverse phenotyping facilitates disease allele calling in exome sequencing of patients with CAKUT

by Awad, H.S, Bauer, S.B, Baum, M.A, Buerger, F., Connaughton, D.M, Daga, A., Dai, R., Daouk, G.H, Deutsch, K., Eid, L.A, El Desoky, S., Fathy, H.M, Ferguson, M.A, Hildebrandt, F., Kari, J.A, Kause, F., Klämbt, V., Kolvenbach, C.M, Lai, E.W, Majmundar, A.J, Mane, S.M, Mann, N., Mao, Y., Nakayama, M., Nicolas-Frank, C., Onuchic-Whitford, A.C, Ottlewski, I., Pantel, D., Rodig, N.M, Salmanullah, D., Schierbaum, L., Schneider, R., Schneider, S., Seltzsam, S., Shalaby, M., Shril, S., Soliman, N.A, Somers, M.J.G, Stein, D.R, Tasic, V., Traum, A.Z, Wang, C., Wu, C.-H.W, Yousef, K., Zheng, B.
Published 2022