Associated Papers
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.
AlAbdi L et al.
Nature Communications, 2023
37644014 (PubMed )
Supplement: 41467_2023_40909_MOESM17_ESM.xlsx › Sheet1
Severe retinal complications in Knobloch Syndrome - Three siblings without clinically apparent occipital defects and a review of the literature.
Arepalli S et al.
Ophthalmic Genetics, 2022
Genetic Variants and Somatic Alterations Associated with MITF-E318K Germline Mutation in Melanoma Patients.
Vergani E et al.
Genes, 2021
34573422 (PubMed )
Supplement: genes-12-01440-s001.zip › genes-1321629-supplementary.xlsx › Table_S3
Comprehensive establishment and characterization of orthoxenograft mouse models of malignant peripheral nerve sheath tumors for personalized medicine.
Castellsagué J et al.
Embo Molecular Medicine, 2015
25810463 (PubMed )
Supplement: emmm0007-0608-sd2.xlsx › MPNST-SP-002_SNV
The ADAMTS18 gene is responsible for autosomal recessive early onset severe retinal dystrophy.
Peluso I et al.
Orphanet Journal of Rare Diseases, 2013
The distinct ophthalmic phenotype of Knobloch syndrome in children.
Khan AO et al.
The British Journal of Ophthalmology, 2012
Identification of ADAMTS18 as a gene mutated in Knobloch syndrome.
Aldahmesh MA et al.
Journal of Medical Genetics, 2011
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