Associated Papers
Utilization of next-generation sequencing to define the role of heterozygous FOXN1 variants in immunodeficiency.
Pasternak Y et al.
The Journal of Allergy and Clinical Immunology. Global, 2024
38800615 (PubMed )
Supplement: mmc2.xlsx › P2-dominant
RP1 Dominant p.Ser740* Pathogenic Variant in 20 Knowingly Unrelated Families Affected by Rod-Cone Dystrophy: Potential Founder Effect in Western Sicily.
D'Esposito F et al.
Medicina (kaunas, Lithuania), 2024
A comprehensive WGS-based pipeline for the identification of new candidate genes in inherited retinal dystrophies.
González-Del Pozo M et al.
Npj Genomic Medicine, 2022
35246562 (PubMed )
Supplement: 41525_2022_286_MOESM1_ESM.pdf
Genetic screening for macular dystrophies in patients clinically diagnosed with dry age-related macular degeneration.
Kersten E et al.
Clinical Genetics, 2018
30215852 (PubMed )
Supplement: CGE-94-569-s001.pdf
High Diagnostic Yield of Whole Exome Sequencing in Participants With Retinal Dystrophies in a Clinical Ophthalmology Setting.
Lee K et al.
American Journal of Ophthalmology, 2015
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