Associated Papers
Enhancing Molecular Diagnostic Accuracy in Genetic Eye Disorders Through a Personalized Re-Evaluation Strategy.
Martins PM et al.
Investigative Ophthalmology & Visual Science, 2026
Clinical exome sequencing efficacy and phenotypic expansions involving non-isolated congenital anomalies of kidney and urinary tract (CAKUT+).
Rivera-Munoz EA et al.
European Journal of Human Genetics : Ejhg, 2025
Clinical and genetic landscape of IRD in Portugal: pooled data from the nationwide IRD-PT registry.
Marta A et al.
Npj Genomic Medicine, 2025
IQCB1 (NPHP5)-Retinopathy: Clinical and Genetic Characterization and Natural History.
Sen S et al.
American Journal of Ophthalmology, 2024
Single Center Experience with Voretigene Neparvovec Gene Augmentation Therapy in RPE65 Mutation-Associated Inherited Retinal Degeneration in a Clinical Setting.
Lorenz B et al.
Ophthalmology, 2024
Genetic and Clinical Profile of Retinopathies Due to Disease-Causing Variants in Leber Congenital Amaurosis (LCA)-Associated Genes in a Large German Cohort.
Zobor D et al.
International Journal of Molecular Sciences, 2023
Dual phenotype: co-occurring Leber congenital amaurosis and familial exudative vitreoretinopathy: a case report.
Miraldi Utz V et al.
Ophthalmic Genetics, 2023
Prevalence of hereditary tubulointerstitial kidney diseases in the German Chronic Kidney Disease study.
Popp B et al.
European Journal of Human Genetics : Ejhg, 2022
In vitro modeling and rescue of ciliopathy associated with IQCB1/NPHP5 mutations using patient-derived cells.
Kruczek K et al.
Stem Cell Reports, 2022
Panel-based genetic testing for inherited retinal disease screening 176 genes.
Sheck LHN et al.
Molecular Genetics & Genomic Medicine, 2021
Clinical and molecular findings in a cohort of 152 Brazilian severe early onset inherited retinal dystrophy patients.
Sallum JMF et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2020
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
Wright CF et al.
American Journal of Human Genetics, 2019
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
Jespersgaard C et al.
Scientific Reports, 2019
Diagnostic value of partial exome sequencing in developmental disorders.
Gieldon L et al.
Plos One, 2018
Characterizing the morbid genome of ciliopathies.
Shaheen R et al.
Genome Biology, 2016
Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.
Unknown Author
Genome Biology, 2015
Pinpointing clinical diagnosis through whole exome sequencing to direct patient care: a case of Senior-Loken syndrome.
Ellingford JM et al.
Lancet (london, England), 2015
Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing.
Wang X et al.
Journal of Medical Genetics, 2013
High-throughput mutation analysis in patients with a nephronophthisis-associated ciliopathy applying multiplexed barcoded array-based PCR amplification and next-generation sequencing.
Halbritter J et al.
Journal of Medical Genetics, 2012
IQCB1 mutations in patients with leber congenital amaurosis.
Estrada-Cuzcano A et al.
Investigative Ophthalmology & Visual Science, 2011