Associated Papers
Genetic testing results of retinal dystrophies in a diverse population: impact of race and ethnicity.
Miller C et al.
Ophthalmic Genetics, 2025
39763302 (PubMed )
Supplement: supplement_1.xlsx › Supplementary_Table_2
The Tip of the Iceberg: Genotype of Puerto Rican Pediatric Obesity.
Melendez-Montañez JM et al.
Genes, 2024
Implementation of genomic medicine for rare disease in a tertiary healthcare system: Mayo Clinic Program for Rare and Undiagnosed Diseases (PRaUD).
Pinto E Vairo F et al.
Journal of Translational Medicine, 2023
37353797 (PubMed )
Supplement: 12967_2023_4183_MOESM3_ESM.xlsx › Table_S3
Comprehensive genomic diagnosis of inherited retinal and optical nerve disorders reveals hidden syndromes and personalized therapeutic options.
Diñeiro M et al.
Acta Ophthalmologica, 2020
32483926 (PubMed )
Supplement: AOS-98-e1034-s012.xlsx › Table_S12
Exome sequencing of cases with neural tube defects identifies candidate genes involved in one-carbon/vitamin B12 metabolisms and Sonic Hedgehog pathway.
Renard E et al.
Human Genetics, 2019
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
Jespersgaard C et al.
Scientific Reports, 2019
30718709 (PubMed )
Supplement: 41598_2018_38007_MOESM2_ESM.xlsx › Ark1
Photoreceptor Cilia and Retinal Ciliopathies.
Bujakowska KM et al.
Cold Spring Harbor Perspectives in Biology, 2017
Diagnostic exome sequencing in 266 Dutch patients with visual impairment.
Haer-Wigman L et al.
European Journal of Human Genetics : Ejhg, 2017
Case Report: Whole-exome analysis of a child with polycystic kidney disease and ventriculomegaly.
Nabhan MM et al.
Genetics and Molecular Research : Gmr, 2015
In vivo modeling of the morbid human genome using Danio rerio.
Niederriter AR et al.
Journal of Visualized Experiments : Jove, 2013
TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum.
Davis EE et al.
Nature Genetics, 2011
Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy.
Otto EA et al.
Journal of Medical Genetics, 2011
A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies.
Khanna H et al.
Nature Genetics, 2009
Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome.
Leitch CC et al.
Nature Genetics, 2008
Select a paper to view details