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Mary Ella Pierpont | Researchclopedia

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Mary Ella Pierpont

145

Works

11,566

Citations

50

h-index

95

i10-index

Research Topics

Congenital heart defects research Congenital Heart Disease Studies Metabolism and Genetic Disorders

Affiliations

Boston Children's Hospital2003–2003

Google (United States)2010–2010

University of Minnesota1899–2020

Minneapolis Institute of Arts1981–1987

Children’s Minnesota - St. Paul Hospital1982–2018

Top Works

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

Linheng Li,Ian D. Krantz,et al.

19971,281 citations

Connective tissue disorders research

Mitochondrial Function and Pathology

Genetic Basis for Congenital Heart Defects: Current Knowledge

Mary Ella Pierpont,Craig T. Basson,et al.

2007850 citations

Mutation of the PAX2 gene in a family with optic nerve colobomas, renal anomalies and vesicoureteral reflux

Phaikasame Sanyanusin,Lisa A. Schimmenti,et al.

1995661 citations

Genetic Basis for Congenital Heart Disease: Revisited: A Scientific Statement From the American Heart Association

Mary Ella Pierpont,Martina Brueckner,et al.

2018636 citations

Noonan Syndrome: Clinical Features, Diagnosis, and Management Guidelines

Alicia Romanó,Judith Allanson,et al.

2010613 citations

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

Ronald V. Lacro,Harry C. Dietz,et al.

2014512 citations

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

Craig T. Basson,Taosheng Huang,et al.

1999365 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,et al.

2006360 citations

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,et al.

1999359 citations