Mary Ella Pierpont

Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1

Linheng Li, Ian D. Krantz, Yu Deng et al. · Nature Genetics · 1997 · 1.3K citations

Mendelian Disorder, Genetic Disorder, Genetics +7

Atenolol versus Losartan in Children and Young Adults with Marfan's Syndrome

Ronald V. Lacro, Harry C. Dietz, Lynn A. Sleeper et al. · New England Journal of Medicine · 2014 · 509 citations · Full text

Different <i>TBX5</i> interactions in heart and limb defined by Holt–Oram syndrome mutations

Craig T. Basson, Taosheng Huang, Robert C. Lin et al. · Proceedings of the National Academy of Sciences · 1999 · 365 citations

An Absence of Cutaneous Neurofibromas Associated with a 3-bp Inframe Deletion in Exon 17 of the NF1 Gene (c.2970-2972 delAAT): Evidence of a Clinically Significant NF1 Genotype-Phenotype Correlation

Meena Upadhyaya, Susan Huson, D. M. Davies et al. · The American Journal of Human Genetics · 2006 · 360 citations · Full text

Mendelian Disorder, Genetic Disorder, Genetic Epidemiology +8

The Mutational Spectrum of the Sonic Hedgehog Gene in Holoprosencephaly: SHH Mutations Cause a Significant Proportion of Autosomal Dominant Holoprosencephaly

Luisa Nanni, Jeffrey E. Ming, Maureen Bocian et al. · Human Molecular Genetics · 1999 · 359 citations · Full text