Associated Papers
Exome sequencing unravels genetic variants associated with chronic kidney disease in Saudi Arabian patients.
Al-Hamed MH et al.
Human Mutation, 2022
Refining Kidney Survival in 383 Genetically Characterized Patients With Nephronophthisis.
König JC et al.
Kidney International Reports, 2022
36090483 (PubMed )
Supplement: mmc1.pdf
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
The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.
Cao Y et al.
Cell Research, 2020
32355288 (PubMed )
Supplement: 41422_2020_322_MOESM14_ESM.xlsx › S7
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
TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum.
Davis EE et al.
Nature Genetics, 2011
Mutational analysis of the NPHP4 gene in 250 patients with nephronophthisis.
Hoefele J et al.
Human Mutation, 2005
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