Nancy B. Spinner

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

Mutations in the human Jagged1 gene are responsible for Alagille syndrome

Takaya Oda, Abdel Elkahloun, Brian L. Pike et al. · Nature Genetics · 1997 · 1.2K citations

Mendelian Disorder, Human Jagged1 Gene, Genetic Disorder +8

NOTCH2 Mutations Cause Alagille Syndrome, a Heterogeneous Disorder of the Notch Signaling Pathway

Ryan M. McDaniell, Daniel M. Warthen, Pedro A. Sanchez‐Lara et al. · The American Journal of Human Genetics · 2006 · 728 citations · Full text

Developmental Biology, Genetic Disorder, Heterogeneous Disorder +5

Features of Alagille Syndrome in 92 Patients: Frequency and Relation to Prognosis

Karan M. Emerick, Elizabeth B. Rand, Elizabeth Goldmuntz et al. · Hepatology · 1999 · 660 citations · Full text

Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis

Laura K. Conlin, Brian Thiel, Carsten G. Bönnemann et al. · Human Molecular Genetics · 2010 · 496 citations · Full text

Cytogenetics, Genetics, Human Polymorphism +23