Persistent Mosaicism for 12p Duplication/Triplication Chromosome Structural Abnormality in Peripheral Blood by Amy L. Shackelford, Laura K. Conlin, Marybeth Hummel, Nancy B. Spinner, Sharon L. Wenger

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Investigation of cryptic JAG1 splice variants as a cause of Alagille syndrome and performance evaluation of splice predictor tools by Ernest Keefer-Jacques, Nicolette Valente, Anastasia M. Jacko, Grace Matwijec, Apsara Reese, Aarna Tekriwal, Kathleen M. Loomes, Nancy B. Spinner, Melissa A. Gilbert

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CCBE1 mutation in two siblings, one manifesting lymphedema-cholestasis syndrome, and the other, fetal hydrops. by Sohela Shah, Laura K Conlin, Luis Gomez, Øystein Aagenaes, Kristin Eiklid, A S Knisely, Michael T Mennuti, Randolph P Matthews, Nancy B Spinner, Laura N Bull

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Generation of an Alagille Syndrome (ALGS) patient-derived induced pluripotent stem cell line (TRNDi036-A) carrying a heterozygous mutation (p.Cys693*) in the JAG1 gene by Omer Hatim, Miao Xu, Ivan Pavlinov, Kaari Linask, Jeanette Beers, Jizhong Zou, Chengyu Liu, Steven Rodems, Karsten Baumgärtel, Melissa A. Gilbert, Nancy B. Spinner, Catherine Chen, Wei Zheng

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Generation of induced pluripotent stem cell lines TRNDi037-A and TRNDi038-A from two patients with Alagille syndrome carrying heterozygous JAG1 mutations by Elena F. Evans, Guibin Chen, Ivan Pavlinov, Xiuli Huang, Kaari Linask, Chengyu Liu, Alexander Rodriguez Lopez, Melissa A. Gilbert, Nancy B. Spinner, Steven Rodemse, Karsten Baumgärtele, Catherine Z. Chen, Jizhong Zou, Wei Zheng

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Transcriptional dysregulation in NIPBL and cohesin mutant human cells. by Jinglan Liu, Zhe Zhang, Masashige Bando, Takehiko Itoh, Matthew A Deardorff, Dinah Clark, Maninder Kaur, Stephany Tandy, Tatsuro Kondoh, Eric Rappaport, Nancy B Spinner, Hugo Vega, Laird G Jackson, Katsuhiko Shirahige, Ian D Krantz

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Outcomes of Childhood Cholestasis in Alagille Syndrome: Results of a Multicenter Observational Study by Binita M. Kamath, Wen Ye, Nathan P. Goodrich, Kathleen M. Loomes, Rene Romero, James E. Heubi, Daniel H. Leung, Nancy B. Spinner, David A. Piccoli, Estella M. Alonso, Stephen L. Guthery, Saul J. Karpen, Cara L. Mack, Jean P. Molleston, Karen F. Murray, Philip Rosenthal, James E. Squires, Jeffrey Teckman, Kasper S. Wang, Richard Thompson, John C. Magee, Ronald J. Sokol, for the Childhood Liver Disease Research Network (ChiLDReN)

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