Associated Papers
Functional genomics in age-related macular degeneration: From genetic associations to understanding disease mechanisms.
Ratnapriya R et al.
Experimental Eye Research, 2025
Joint genotypic and phenotypic outcome modeling improves base editing variant effect quantification.
Ryu J et al.
Nature Genetics, 2024
Integration of genetic fine-mapping and multi-omics data reveals candidate effector genes for hypertension.
van Duijvenboden S et al.
American Journal of Human Genetics, 2023
Vitronectin and Its Interaction with PAI-1 Suggests a Functional Link to Vascular Changes in AMD Pathobiology.
Biasella F et al.
Cells, 2022
Genetic Determinants of Plasma Low-Density Lipoprotein Cholesterol Levels: Monogenicity, Polygenicity, and "Missing" Heritability.
Martín-Campos JM
Biomedicines, 2021
34829957 (PubMed )
Supplement: biomedicines-09-01728-s001.zip › biomedicines-1435333-sup2.pdf
Why does SARS-CoV-2 hit in different ways? Host genetic factors can influence the acquisition or the course of COVID-19.
Monticelli M et al.
European Journal of Medical Genetics, 2021
33872774 (PubMed )
Supplement: mmc2.xlsx › Foglio1
Loss-of-function genomic variants highlight potential therapeutic targets for cardiovascular disease.
Nielsen JB et al.
Nature Communications, 2020
33339817 (PubMed )
Supplement: 41467_2020_20086_MOESM4_ESM.xlsx › Data_S12
Whole exome sequencing in three families segregating a pediatric case of sarcoidosis.
Calender A et al.
Bmc Medical Genomics, 2018
29510755 (PubMed )
Supplement: 12920_2018_338_MOESM6_ESM.xlsx › T1
An integrative functional genomics framework for effective identification of novel regulatory variants in genome-phenome studies.
Zhao J et al.
Genome Medicine, 2018
29378629 (PubMed )
Supplement: 13073_2018_513_MOESM4_ESM.xlsx › Sheet1
Exome-wide association study of plasma lipids in >300,000 individuals.
Liu DJ et al.
Nature Genetics, 2017
Clinical proteome informatics workbench detects pathogenic mutations in hereditary amyloidoses.
Dasari S et al.
Journal of Proteome Research, 2014
24650283 (PubMed )
Supplement: pr4011475_si_001.pdf
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