The Syndrome of Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus (MMCAT) Is Caused by Mutations inADAMTS18

No evidence for locus heterogeneity in Knobloch syndrome

(2013) Mohammed A Aldahmesh et al.   JOURNAL OF MEDICAL GENETICS

Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia

(2013) Virginie J M Verhoeven et al.   NATURE GENETICS

The ADAMTS18 gene is responsible for autosomal recessive early onset severe retinal dystrophy

(2013) Ivana Peluso et al.   Orphanet Journal of Rare Diseases

Genome-Wide Analysis Points to Roles for Extracellular Matrix Remodeling, the Visual Cycle, and Neuronal Development in Myopia

(2013) Amy K. Kiefer et al.   PLoS Genetics

The distinct ophthalmic phenotype of Knobloch syndrome in children

(2012) Arif O Khan et al.   BRITISH JOURNAL OF OPHTHALMOLOGY

Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes

(2012) L. Abu-Safieh et al.   GENOME RESEARCH

Myopia

(2012) Ian G Morgan et al.   LANCET

Microcornea with myopic chorioretinal atrophy, telecanthus and posteriorly-rotated ears: a distinct clinical syndrome

(2012) Arif O. Khan   OPHTHALMIC GENETICS

Identification of ADAMTS18 as a gene mutated in Knobloch syndrome

(2011) M. A. Aldahmesh et al.   JOURNAL OF MEDICAL GENETICS

Nature and nurture: the complex genetics of myopia and refractive error

(2010) R Wojciechowski   CLINICAL GENETICS

Mutational and Functional Analysis Reveals ADAMTS18 Metalloproteinase as a Novel Driver in Melanoma

(2010) X. Wei et al.   MOLECULAR CANCER RESEARCH

A genome-wide association study for myopia and refractive error identifies a susceptibility locus at 15q25

(2010) Pirro G Hysi et al.   NATURE GENETICS

HomozygosityMapper--an interactive approach to homozygosity mapping

(2009) D. Seelow et al.   NUCLEIC ACIDS RESEARCH