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
Rare variants and founder effect in the Beauce region of Quebec.
Gagnon M et al.
Communications Biology, 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
The Role of Genetic Testing in Children Requiring Surgery for Ectopia Lentis.
Musleh M et al.
Genes, 2023
Biallelic ADAMTSL4 variants in a Chinese cohort of congenital ectopia lentis: Implications for genotype-phenotype relationships.
Chen ZX et al.
Human Mutation, 2022
Aggregated Genomic Data as Cohort-Specific Allelic Frequencies can Boost Variants and Genes Prioritization in Non-Solved Cases of Inherited Retinal Dystrophies.
Iancu IF et al.
International Journal of Molecular Sciences, 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
Clinical utility of genetic testing in 201 preschool children with inherited eye disorders.
Lenassi E et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
Actionable perturbations of damage responses by TCL1/ATM and epigenetic lesions form the basis of T-PLL.
Schrader A et al.
Nature Communications, 2018
ADAMTSL4 assessment in ectopia lentis reveals a recurrent founder mutation in Polynesians.
van Bysterveldt KA et al.
Ophthalmic Genetics, 2017
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
A founder mutation in ADAMTSL4 causes early-onset bilateral ectopia lentis among Jews of Bukharian origin.
Reinstein E et al.
Molecular Genetics and Metabolism, 2016
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
A homozygous microdeletion within ADAMTSL4 in patients with isolated ectopia lentis: evidence of a founder mutation.
Neuhann TM et al.
Investigative Ophthalmology & Visual Science, 2011
A novel ADAMTSL4 mutation in autosomal recessive ectopia lentis et pupillae.
Christensen AE et al.
Investigative Ophthalmology & Visual Science, 2010
Role of ADAMTSL4 mutations in FBN1 mutation-negative ectopia lentis patients.
Aragon-Martin JA et al.
Human Mutation, 2010
Craniosynostosis with ectopia lentis and a homozygous 20-base deletion in ADAMTSL4.
Chandra A et al.
Ophthalmic Genetics, 0
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