D
David A. Piccoli
Researcher at Children's Hospital of Philadelphia
Publications - 19
Citations - 3198
David A. Piccoli is an academic researcher from Children's Hospital of Philadelphia. The author has contributed to research in topics: Alagille syndrome & JAG1. The author has an hindex of 15, co-authored 19 publications receiving 3000 citations. Previous affiliations of David A. Piccoli include University of Washington & University of Pennsylvania.
Papers
More filters
Journal ArticleDOI
Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1
Linheng Li,Ian D. Krantz,Yu Deng,Yu Deng,Anna Genin,Amy B. Banta,Colin Collins,Ming Qi,Barbara J. Trask,Wen Lin Kuo,Joanne Cochran,Teresa Costa,Mary Ella M Pierpont,Elizabeth B. Rand,David A. Piccoli,Leroy Hood,Nancy B. Spinner +16 more
TL;DR: Four distinct coding mutations in JAG1 are demonstrated, providing evidence that it is the causal gene for Alagille syndrome, and supporting the hypothesis that haploinsufficiency for this gene is one of the mechanisms causing the Alagile syndrome phenotype.
Journal ArticleDOI
Features of alagille syndrome in 92 patients: Frequency and relation to prognosis
Karan M. Emerick,Elizabeth B. Rand,Elizabeth Goldmuntz,Ian D. Krantz,Nancy B. Spinner,David A. Piccoli +5 more
TL;DR: The hepatic histology of these AGS patients showed a significant increase in the prevalence of bile duct paucity and fibrosis with increasing age, and initial measures of hepatic function in infancy including absence of scintiscan excretion were not predictive of risk for transplantation or increased mortality.
Journal ArticleDOI
Vascular anomalies in Alagille syndrome: a significant cause of morbidity and mortality.
Binita M. Kamath,Nancy B. Spinner,Karan M. Emerick,Albert E. Chudley,Carol Booth,David A. Piccoli,Ian D. Krantz +6 more
TL;DR: The vascular anomalies described in this cohort of AGS individuals identify an underrecognized and potentially devastating complication of this disorder.
Journal ArticleDOI
Analysis of Cardiovascular Phenotype and Genotype-Phenotype Correlation in Individuals With a JAG1 Mutation and/or Alagille Syndrome
Doff B. McElhinney,Ian D. Krantz,Lynn Bason,David A. Piccoli,Karan M. Emerick,Nancy B. Spinner,Elizabeth Goldmuntz +6 more
TL;DR: More than 90% of individuals with a JAG1 mutation or AGS have cardiovascular anomalies, with branch PA stenosis the most common abnormality, and cardiovascular phenotype does not correlate with the type or location of J AG1 mutation.
Journal ArticleDOI
Jagged1 mutations in patients ascertained with isolated congenital heart defects.
Ian D. Krantz,Rosemarie Smith,Ray P. Colliton,Hilary Tinkel,Elaine H. Zackai,David A. Piccoli,Elizabeth Goldmuntz,Nancy B. Spinner +7 more
TL;DR: It is hypothesized that defects in Jagged1 can be found in patients with presumably isolated heart defects, such as tetralogy of Fallot or pulmonic stenosis, and two patients with heart defects of the type seen in AGS and their relatives were investigated for alterations in theJagged1 gene.