Associated Papers
Functional genomics in age-related macular degeneration: From genetic associations to understanding disease mechanisms.
Ratnapriya R et al.
Experimental Eye Research, 2025
SLC16A8 is a causal contributor to age-related macular degeneration risk.
Nouri N et al.
Npj Genomic Medicine, 2024
Rare variant association analyses reveal the significant contribution of carbohydrate metabolic disturbance in severe adolescent idiopathic scoliosis.
Wen W et al.
Journal of Medical Genetics, 2024
The landscape of rare genetic variants in familial Waldenström macroglobulinemia.
Pemov A et al.
Blood Neoplasia, 2024
39036705 (PubMed )
Supplement: BNEO_NEO-2023-000111-mmc4.xlsx › Supplementary_Table_4
A Splice Variant in SLC16A8 Gene Leads to Lactate Transport Deficit in Human iPS Cell-Derived Retinal Pigment Epithelial Cells.
Klipfel L et al.
Cells, 2021
A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants.
Fritsche LG et al.
Nature Genetics, 2016
De novo mutations in moderate or severe intellectual disability.
Hamdan FF et al.
Plos Genetics, 2014
25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 1907.666
Glucose metabolism transporters and epilepsy: only GLUT1 has an established role.
Hildebrand MS et al.
Epilepsia, 2014
Latest Development on Genetics of Common Retinal Diseases.
Chen LJ et al.
Asia-pacific Journal of Ophthalmology (philadelphia, Pa.), 0
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