Mary Ella Pierpont
Publications by Year
Research Areas
Congenital heart defects research, Congenital Heart Disease Studies, Metabolism and Genetic Disorders, Connective tissue disorders research, Mitochondrial Function and Pathology
Most-Cited Works
- → Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1(1997)1,281 cited
- → Genetic Basis for Congenital Heart Defects: Current Knowledge(2007)850 cited
- → Mutation of the PAX2 gene in a family with optic nerve colobomas, renal anomalies and vesicoureteral reflux(1995)660 cited
- → Genetic Basis for Congenital Heart Disease: Revisited: A Scientific Statement From the American Heart Association(2018)636 cited
- → Noonan Syndrome: Clinical Features, Diagnosis, and Management Guidelines(2010)613 cited
- → Atenolol versus Losartan in Children and Young Adults with Marfan's Syndrome(2014)511 cited
- → Different TBX5 interactions in heart and limb defined by Holt–Oram syndrome mutations(1999)365 cited
- → 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(2006)360 cited
- → The Mutational Spectrum of the Sonic Hedgehog Gene in Holoprosencephaly: SHH Mutations Cause a Significant Proportion of Autosomal Dominant Holoprosencephaly(1999)359 cited
- → Germline PTEN Promoter Mutations and Deletions in Cowden/Bannayan-Riley-Ruvalcaba Syndrome Result in Aberrant PTEN Protein and Dysregulation of the Phosphoinositol-3-Kinase/Akt Pathway(2003)283 cited