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
Published 2013-01-01

Genomic Diagnosis for Pediatric Disorders: Revolution and Evolution

by Emilie Lalonde, Stefan Rentas, Fumin Lin, Matthew C. Dulik, Cara M. Skraban, Nancy B. Spinner
Published 2020-07-01

Genome-wide expression analysis in fibroblast cell lines from probands with Pallister Killian syndrome.

by Maninder Kaur, Kosuke Izumi, Alisha B Wilkens, Kathryn C Chatfield, Nancy B Spinner, Laura K Conlin, Zhe Zhang, Ian D Krantz
Published 2014-01-01

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
Published 2013-01-01

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
Published 2009-05-01

A genome-wide association study identifies a susceptibility locus for biliary atresia on 2p16.1 within the gene EFEMP1.

by Ying Chen, Melissa A Gilbert, Christopher M Grochowski, Deborah McEldrew, Jessica Llewellyn, Orith Waisbourd-Zinman, Hakon Hakonarson, Joan E Bailey-Wilson, Pierre Russo, Rebecca G Wells, Kathleen M Loomes, Nancy B Spinner, Marcella Devoto
Published 2018-08-01

THBS2 Is a Candidate Modifier of Liver Disease Severity in Alagille SyndromeSummary

by Ellen A. Tsai, Melissa A. Gilbert, Christopher M. Grochowski, Lara A. Underkoffler, He Meng, Xiaojie Zhang, Michael M. Wang, Hailu Shitaye, Kurt D. Hankenson, David Piccoli, Henry Lin, Binita M. Kamath, Marcella Devoto, Nancy B. Spinner, Kathleen M. Loomes
Published 2016-09-01

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)
Published 2020-03-01