Associated Papers
Highly efficient capture approach for the identification of diverse inherited retinal disorders.
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Supplement: 41525_2023_388_MOESM4_ESM.xlsx › Solved_cases
Targeted sequencing and in vitro splice assays shed light on ABCA4-associated retinopathies missing heritability.
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Supplement: mmc9.xlsx › Table_S11
Compendium of Clinical Variant Classification for 2,246 Unique ABCA4 Variants to Clarify Variant Pathogenicity in Stargardt Disease Using a Modified ACMG/AMP Framework.
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Human Mutation, 2023
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Supplement: 6815504.f1.zip › S1_ACMG_Categorisation.xlsx › Overview_S1
Rare POLN mutations confer risk for familial nasopharyngeal carcinoma through weakened Epstein-Barr virus lytic replication.
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Ebiomedicine, 2022
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Supplement: mmc3.xlsx › Table_S3
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