Absence of <i>NOTCH2</i> and <i>Hey2</i> mutations in a familial Alagille syndrome case with a novel frameshift mutation in <i>JAG1</i>

Embryonic Lethality and Vascular Defects in Mice Lacking the Notch Ligand Jagged1

Yun Xue, Xiang Gao, C.E. Lindsell et al. · Human Molecular Genetics · 1999 · 762 citations · Full text

Life Sciences, Developmental Biology, Genetics +17

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 · 743 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

A mouse model of Alagille syndrome:<i>Notch2</i>as a genetic modifier of<i>Jag1</i>haploinsufficiency

Brent McCright, Julie Lozier, Thomas Gridley · Development · 2002 · 478 citations

Life Sciences, Genetics, Molecular Genetics +17

Jagged1 (<i>JAG1</i>) mutations in Alagille syndrome: increasing the mutation detection rate

DM Warthen, EC Moore, BM Kamath et al. · Human Mutation · 2006 · 205 citations

Life Sciences, Genetics, Molecular Genetics +17

Parental consanguinity and congenital heart malformations in a developing country

Mona Nabulsi, Hala Tamim, Maha Sabbagh et al. · American Journal of Medical Genetics Part A · 2002 · 106 citations

Medicine, Cardiology, Pediatrics +12