Fibrinogen storage disease in a Chinese boy with de novo fibrinogen Aguadilla mutation: Incomplete response to carbamazepine and ursodeoxycholic acid

by Zhang, Mei-Hong, Knisely, A. S., Wang, Neng-li, Gong, Jing-Yu, Wang, Jian-She
Published 2016

Primary Biliary Cirrhosis-Specific Antimitochondrial Antibodies in Neonatal Haemochromatosis

by Smyk, Daniel S., Mytilinaiou, Maria G., Grammatikopoulos, Tassos, Knisely, A. S., Mieli-Vergani, Giorgina, Bogdanos, Dimitrios P., Vergani, Diego
Published 2013

CCBE1 Mutation in Two Siblings, One Manifesting Lymphedema-Cholestasis Syndrome, and the Other, Fetal Hydrops

by Shah, Sohela, Conlin, Laura K., Gomez, Luis, Aagenaes, Øystein, Eiklid, Kristin, Knisely, A. S., Mennuti, Michael T., Matthews, Randolph P., Spinner, Nancy B., Bull, Laura N.
Published 2013

Mutation detection in cholestatic patients using microarray resequencing of ATP8B1 and ABCB11

by McKay, Kirsten E, Bruce, Christopher K, Hartley, Jane L, Knisely, A S, Baumann, Ulrich, Bockisch, Sonja-Stephanie, Sturm, Ekkehard, Hendriksz, Christian J, Kelly, Deidre A, Macdonald, Fiona, Gissen, Paul
Published 2013

ATP8B1-mediated spatial organization of Cdc42 signaling maintains singularity during enterocyte polarization

by Bruurs, Lucas J.M., Donker, Lisa, Zwakenberg, Susan, Zwartkruis, Fried J., Begthel, Harry, Knisely, A.S., Posthuma, George, van de Graaf, Stan F.J., Paulusma, Coen C., Bos, Johannes L.
Published 2015

Associations Among Genotype, Clinical Phenotype, and Intracellular Localization of Trafficking Proteins in ARC Syndrome

by Smith, Holly, Galmes, Romain, Gogolina, Ekaterina, Straatman-Iwanowska, Anna, Reay, Kim, Banushi, Blerida, Bruce, Christopher K, Cullinane, Andrew R, Romero, Rene, Chang, Richard, Ackermann, Oanez, Baumann, Clarisse, Cangul, Hakan, Cakmak Celik, Fatma, Aygun, Canan, Coward, Richard, Dionisi-Vici, Carlo, Sibbles, Barbara, Inward, Carol, Ae Kim, Chong, Klumperman, Judith, Knisely, A S, Watson, Steven P, Gissen, Paul
Published 2012

Mutations in the nuclear bile acid receptor FXR cause progressive familial intrahepatic cholestasis

by Gomez-Ospina, Natalia, Potter, Carol J., Xiao, Rui, Manickam, Kandamurugu, Kim, Mi-Sun, Kim, Kang Ho, Shneider, Benjamin L., Picarsic, Jennifer L., Jacobson, Theodora A., Zhang, Jing, He, Weimin, Liu, Pengfei, Knisely, A. S., Finegold, Milton J., Muzny, Donna M., Boerwinkle, Eric, Lupski, James R., Plon, Sharon E., Gibbs, Richard A., Eng, Christine M., Yang, Yaping, Washington, Gabriel C., Porteus, Matthew H., Berquist, William E., Kambham, Neeraja, Singh, Ravinder J., Xia, Fan, Enns, Gregory M., Moore, David D.
Published 2016