Nancy J. Carpenter

Down syndrome phenotypes: the consequences of chromosomal imbalance.

Julie R. Korenberg, X N Chen, Roberton D. Schipper et al. · Proceedings of the National Academy of Sciences · 1994 · 788 citations · Full text

Down Syndrome, Chromatin, Developmental Biology +13

The genetic architecture of Down syndrome phenotypes revealed by high-resolution analysis of human segmental trisomies

Jan O. Korbel, Tal Tirosh‐Wagner, Alexander E. Urban et al. · Proceedings of the National Academy of Sciences · 2009 · 393 citations · Full text

Down Syndrome, Severe Mental Retardation, Developmental Biology +14

Allan-Herndon-Dudley Syndrome and the Monocarboxylate Transporter 8 (MCT8) Gene

Charles E. Schwartz, Melanie May, Nancy J. Carpenter et al. · The American Journal of Human Genetics · 2005 · 366 citations · Full text

Molecular Physiology, Mendelian Disorder, Genetic Disorder +5

Mutations of <i>ARX</i> are associated with striking pleiotropy and consistent genotype–phenotype correlation

Mitsuhiro Kato, Soma Das, Kristin Petras et al. · Human Mutation · 2004 · 327 citations

Genetics, Pathology, Molecular Genetics +17

Mutations in the Gene Encoding the Sigma 2 Subunit of the Adaptor Protein 1 Complex, AP1S2, Cause X-Linked Mental Retardation

Patrick Tarpey, Claire Stevens, Jon W. Teague et al. · The American Journal of Human Genetics · 2006 · 122 citations · Full text

Genome Instability, Adaptor Protein 1, Mendelian Disorder +11