Exome sequencing revealed Notch ligand JAG1 as a novel candidate gene for familial exudative vitreoretinopathy

Mutant RAMP2 causes primary open-angle glaucoma via the CRLR-cAMP axis

(2019) Bo Gong et al.   GENETICS IN MEDICINE

A splicing mutation in aryl hydrocarbon receptor associated with retinitis pigmentosa

(2018) Yu Zhou et al.   HUMAN MOLECULAR GENETICS

Mutations in TSPAN12 Cause Autosomal-Dominant Familial Exudative Vitreoretinopathy

(2016) James A. Poulter et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in CEP78 Cause Cone-Rod Dystrophy and Hearing Loss Associated with Primary-Cilia Defects

(2016) Konstantinos Nikopoulos et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Haploinsufficiency ofRCBTB1is associated with Coats disease and familial exudative vitreoretinopathy

(2016) Jeng-Hung Wu et al.   HUMAN MOLECULAR GENETICS

Endothelial Jagged1 Antagonizes Dll4 Regulation of Endothelial Branching and Promotes Vascular Maturation Downstream of Dll4/Notch1

(2015) A.-R. Pedrosa et al.   ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY

Whole-Exome Sequencing Identifies KIZ as a Ciliary Gene Associated with Autosomal-Recessive Rod-Cone Dystrophy

(2014) Said El Shamieh et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Phenotypic Overlap Between Familial Exudative Vitreoretinopathy and Microcephaly, Lymphedema, and Chorioretinal Dysplasia Caused byKIF11Mutations

(2014) Johane M. Robitaille et al.   JAMA Ophthalmology

High Prevalence of Peripheral Retinal Vascular Anomalies in Family Members of Patients with Familial Exudative Vitreoretinopathy

(2013) Amir H. Kashani et al.   OPHTHALMOLOGY

ZNF408 is mutated in familial exudative vitreoretinopathy and is crucial for the development of zebrafish retinal vasculature

(2013) R. W. J. Collin et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Whole-Exome Sequencing Identifies LRIT3 Mutations as a Cause of Autosomal-Recessive Complete Congenital Stationary Night Blindness

(2012) Christina Zeitz et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Next generation sequencing identifies mutations in Atonal homolog 7 (ATOH7) in families with global eye developmental defects

(2011) Kamron Khan et al.   HUMAN MOLECULAR GENETICS

Next-Generation Sequencing of a 40 Mb Linkage Interval Reveals TSPAN12 Mutations in Patients with Familial Exudative Vitreoretinopathy

(2010) Konstantinos Nikopoulos et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Inducible gene targeting in the neonatal vasculature and analysis of retinal angiogenesis in mice

(2010) Mara E Pitulescu et al.   Nature Protocols

The Notch Ligands Dll4 and Jagged1 Have Opposing Effects on Angiogenesis

(2009) Rui Benedito et al.   CELL

Angiogenesis: A Team Effort Coordinated by Notch

(2009) L.-K. Phng et al.   DEVELOPMENTAL CELL

Efficient, inducible Cre-recombinase activation in vascular endothelium

(2008) Suzanne Claxton et al.   GENESIS