Associated Papers
ADAMTSL4 ectopia lentis associated with Poland syndrome: a case report.
Cool D et al.
Ophthalmic Genetics, 2026
The Phenotypic and Genotypic Features of ADAMTSL4-Related Ocular Disease.
Williams KM et al.
Clinical Genetics, 2025
Comprehensive genetic screening of 70 severe adolescent idiopathic scoliosis probands reveals novel pathogenic variants and syndromic associations.
Horbacz M et al.
Frontiers in Medicine, 2025
Ectopia lentis associated with a 20-base deletion in the ADAMTSL4 gene in the Old Order Amish population.
Kuang G et al.
Ophthalmic Genetics, 2024
Biallelic ADAMTSL4 variants in a Chinese cohort of congenital ectopia lentis: Implications for genotype-phenotype relationships.
Chen ZX et al.
Human Mutation, 2022
ADAMTSL4-related ectopia lentis: A case of pseudodominance with an asymptomatic parent.
Scanga HL et al.
American Journal of Medical Genetics. Part A, 2022
Mechanism of Disease: Recessive ADAMTSL4 Mutations and Craniosynostosis with Ectopia Lentis.
Gustafson J et al.
Case Reports in Genetics, 2022
The phenotypic spectrum of ADAMTSL4-associated ectopia lentis: Additional cases, complications, and review of literature.
Knight LSW et al.
Molecular Vision, 2022
Clinical and technical assessment of MedExome vs. NGS panels in patients with suspected genetic disorders in Southwestern Ontario.
Aref-Eshghi E et al.
Journal of Human Genetics, 2021
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.
Stranneheim H et al.
Genome Medicine, 2021
Sources of discordance among germ-line variant classifications in ClinVar.
Yang S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
NGS panel analysis in 24 ectopia lentis patients; a clinically relevant test with a high diagnostic yield.
Overwater E et al.
European Journal of Medical Genetics, 2017
Disruption of murine Adamtsl4 results in zonular fiber detachment from the lens and in retinal pigment epithelium dedifferentiation.
Collin GB et al.
Human Molecular Genetics, 2015
ADAMTSL4-associated isolated ectopia lentis: Further patients, novel mutations and a detailed phenotype description.
Neuhann TM et al.
American Journal of Medical Genetics. Part A, 2015
A genotype-phenotype comparison of ADAMTSL4 and FBN1 in isolated ectopia lentis.
Chandra A et al.
Investigative Ophthalmology & Visual Science, 2012
Autosomal Recessive ADAMTSL4-Related Isolated Ectopia Lentis in the Ohio Old Order Amish and Mennonite Communities.
Chiang T et al.
Journal of Vitreoretinal Diseases, 0