A Novel Deletion of IGF1 in a Patient With Idiopathic Short Stature Provides Insight Into IGF1 Haploinsufficiency

Por Batey, Lara, Moon, Jennifer E., Yu, Yongguo, Wu, Bingbing, Hirschhorn, Joel N., Shen, Yiping, Dauber, Andrew
Publicado em 2014

Whole exome sequencing to identify genetic causes of short stature

Por Guo, Michael H., Shen, Yiping, Walvoord, Emily C., Miller, Timothy C., Moon, Jennifer E., Hirschhorn, Joel N, Dauber, Andrew
Publicado em 2014

Large-Scale Pooled Next-Generation Sequencing of 1077 Genes to Identify Genetic Causes of Short Stature

Por Wang, Sophie R., Carmichael, Heather, Andrew, Shayne F., Miller, Timothy C., Moon, Jennifer E., Derr, Michael A., Hwa, Vivian, Hirschhorn, Joel N., Dauber, Andrew
Publicado em 2013

Heterozygous mutations in natriuretic peptide receptor-B (NPR2) gene as a cause of short stature

Por Wang, Sophie R., Jacobsen, Christina M., Carmichael, Heather, Edmund, Aaron B., Robinson, Jerid W., Olney, Robert C., Miller, Timothy C., Moon, Jennifer E., Mericq, Veronica, Potter, Lincoln R., Warman, Matthew L., Hirschhorn, Joel N., Dauber, Andrew
Publicado no Hum Mutat (2015)

Novel Microcephalic Primordial Dwarfism Disorder Associated with Variants in the Centrosomal Protein Ninein

Por Dauber, Andrew, LaFranchi, Stephen H., Maliga, Zoltan, Lui, Julian C., Moon, Jennifer E., McDeed, Cailin, Henke, Katrin, Zonana, Jonathan, Kingman, Garrett A., Pers, Tune H., Baron, Jeffrey, Rosenfeld, Ron G., Hirschhorn, Joel N., Harris, Matthew P., Hwa, Vivian
Publicado em 2012

Functional Significance of Single Nucleotide Polymorphisms in the Lactase Gene in Diverse United States Subjects and Evidence for a Novel Lactase Persistence Allele at -13909 in Th...

Por Baffour-Awuah, Nana Yaa, Fleet, Sarah, Baker, Susan S., Butler, Johannah L., Campbell, Catarina, Tischfield, Samuel, Mitchell, Paul D., Moon, Jennifer E., Allende-Richter, Sophie, Fishman, Laurie, Bousvaros, Athos, Fox, Victor, Kuokkanen, Mikko, Montgomery, Robert K., Grand, Richard J., Hirschhorn, Joel N.
Publicado no J Pediatr Gastroenterol Nutr (2015)

Structural forms of the human amylase locus and their relationships to SNPs, haplotypes, and obesity

Por Usher, Christina L, Handsaker, Robert E, Esko, Tõnu, Tuke, Marcus A, Weedon, Michael N, Hastie, Alex R, Cao, Han, Moon, Jennifer E, Kashin, Seva, Fuchsberger, Christian, Metspalu, Andres, Pato, Carlos N, Pato, Michele T, McCarthy, Mark I, Boehnke, Michael, Altshuler, David M, Frayling, Timothy M, Hirschhorn, Joel N, McCarroll, Steven A
Publicado no Nat Genet (2015)