Ian D. Krantz

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

Rare Variants Create Synthetic Genome-Wide Associations

Samuel P. Dickson, Kai Wang, Ian D. Krantz et al. · PLoS Biology · 2010 · 862 citations · Full text

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

Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B

Ian D. Krantz, Jennifer McCallum, Cheryl DeScipio et al. · Nature Genetics · 2004 · 715 citations · Full text

Genome Instability, Developmental Biology, Genetic Disorder +8

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