Joe Rainger
Roslin Institute(GB)Department of Embryology(US)University of Edinburgh(GB)
Publications by Year
Research Areas
Ocular Disorders and Treatments, Congenital Ear and Nasal Anomalies, Hedgehog Signaling Pathway Studies, Developmental Biology and Gene Regulation, Retinal Development and Disorders
Most-Cited Works
- → Mutations in SOX2 cause anophthalmia-esophageal-genital (AEG) syndrome(2006)222 cited
- → SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome(2017)160 cited
- → Heterozygous Loss-of-Function Mutations in YAP1 Cause Both Isolated and Syndromic Optic Fissure Closure Defects(2014)108 cited
- → A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect(2016)101 cited
- → Loss of the BMP Antagonist, SMOC-1, Causes Ophthalmo-Acromelic (Waardenburg Anophthalmia) Syndrome in Humans and Mice(2011)93 cited
- → Monoallelic and Biallelic Mutations in MAB21L2 Cause a Spectrum of Major Eye Malformations(2014)89 cited