Dent's disease complicated by an acute Budd-Chiari syndrome

Por Platt, Caroline, Jadresic, Lyda, Dudley, Jan, Hartley, Jane L
Publicado em 2014

Polymorphisms in ABCB11 and ATP8B1 Associated with Development of Severe Intrahepatic Cholestasis in Hodgkin's Lymphoma

Por Blackmore, Laura, Knisely, A.S., Hartley, Jane L., McKay, Kirsten, Gissen, Paul, Marcus, Robert, Shawcross, Debbie L.
Publicado em 2013

Investigation of Primary Cilia in the Pathogenesis of Biliary Atresia

Por Hartley, Jane L., O'Callaghan, Christopher, Rossetti, Sandro, Consugar, Mark, Ward, Christopher J., Kelly, Deirdre A., Harris, Peter C.
Publicado em 2011

The SKIV2L RNA exosome limits activation of the RIG-I-like receptors

Por Eckard, Sterling C., Rice, Gillian I., Fabre, Alexandre, Badens, Catherine, Gray, Elizabeth E., Hartley, Jane L., Crow, Yanick J., Stetson, Daniel B.
Publicado em 2014

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

Por 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
Publicado em 2013

A combination of mutations in AKR1D1 and SKIV2L in a family with severe infantile liver disease

Por Morgan, Neil V, Hartley, Jane L, Setchell, Kenneth DR, Simpson, Michael A, Brown, Rachel, Tee, Louise, Kirkham, Sian, Pasha, Shanaz, Trembath, Richard C, Maher, Eamonn R, Gissen, Paul, Kelly, Deirdre A
Publicado em 2013

Combined NGS Approaches Identify Mutations in the Intraflagellar Transport Gene IFT140 in Skeletal Ciliopathies with Early Progressive Kidney Disease

Por Schmidts, Miriam, Frank, Valeska, Eisenberger, Tobias, al Turki, Saeed, Bizet, Albane A., Antony, Dinu, Rix, Suzanne, Decker, Christian, Bachmann, Nadine, Bald, Martin, Vinke, Tobias, Toenshoff, Burkhard, Donato, Natalia Di, Neuhann, Theresa, Hartley, Jane L., Maher, Eamonn R., Bogdanović, Radovan, Peco-Antić, Amira, Mache, Christoph, Hurles, Matthew E., Joksić, Ivana, Guć-Šćekić, Marija, Dobricic, Jelena, Brankovic-Magic, Mirjana, Bolz, Hanno J., Pazour, Gregory J., Beales, Philip L., Scambler, Peter J., Saunier, Sophie, Mitchison, Hannah M., Bergmann, Carsten
Publicado no Hum Mutat (2013)

Defects in the IFT-B Component IFT172 Cause Jeune and Mainzer-Saldino Syndromes in Humans

Por Halbritter, Jan, Bizet, Albane A., Schmidts, Miriam, Porath, Jonathan D., Braun, Daniela A., Gee, Heon Yung, McInerney-Leo, Aideen M., Krug, Pauline, Filhol, Emilie, Davis, Erica E., Airik, Rannar, Czarnecki, Peter G., Lehman, Anna M., Trnka, Peter, Nitschké, Patrick, Bole-Feysot, Christine, Schueler, Markus, Knebelmann, Bertrand, Burtey, Stéphane, Szabó, Attila J., Tory, Kálmán, Leo, Paul J., Gardiner, Brooke, McKenzie, Fiona A., Zankl, Andreas, Brown, Matthew A., Hartley, Jane L., Maher, Eamonn R., Li, Chunmei, Leroux, Michel R., Scambler, Peter J., Zhan, Shing H., Jones, Steven J., Kayserili, Hülya, Tuysuz, Beyhan, Moorani, Khemchand N., Constantinescu, Alexandru, Krantz, Ian D., Kaplan, Bernard S., Shah, Jagesh V., Hurd, Toby W., Doherty, Dan, Katsanis, Nicholas, Duncan, Emma L., Otto, Edgar A., Beales, Philip L., Mitchison, Hannah M., Saunier, Sophie, Hildebrandt, Friedhelm
Publicado em 2013