Associated Papers
Common and rare variant analyses reveal genetic factors underlying idiopathic pulmonary fibrosis and its shared aetiology with severe COVID-19.
Kousathanas A et al.
Ebiomedicine, 2025
41314149 (PubMed )
Supplement: mmc2.docx
Rare protective variants and glaucoma-relevant cell stressors modulate Angiopoietin-like 7 expression.
Aboobakar IF et al.
Human Molecular Genetics, 2023
FinnGen provides genetic insights from a well-phenotyped isolated population.
Kurki MI et al.
Nature, 2023
Whole-exome sequencing study identifies rare variants and genes associated with intraocular pressure and glaucoma.
Gao XR et al.
Nature Communications, 2022
ANGPTL7, a therapeutic target for increased intraocular pressure and glaucoma.
Praveen K et al.
Communications Biology, 2022
Whole-exome sequencing reveals damaging gene variants associated with hypoalphalipoproteinemia.
Dong W et al.
Journal of Lipid Research, 2022
35460704 (PubMed )
Supplement: mmc1.pdf
Exome sequencing and analysis of 454,787 UK Biobank participants.
Backman JD et al.
Nature, 2021
34662886 (PubMed )
Supplement: 41586_2021_4103_MOESM5_ESM.xlsx › SD2
Rare protein-altering variants in ANGPTL7 lower intraocular pressure and protect against glaucoma.
Tanigawa Y et al.
Plos Genetics, 2020
Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients.
Fichna JP et al.
Human Genomics, 2018
29970176 (PubMed )
Supplement: 40246_2018_167_MOESM3_ESM.xlsx › skeletal_muscle
Identification of NCAN as a candidate gene for developmental dyslexia.
Einarsdottir E et al.
Scientific Reports, 2017
28839234 (PubMed )
Supplement: 41598_2017_10175_MOESM3_ESM.xls › 3935-rare_exonic_variants
Benchmarking of Whole Exome Sequencing and Ad Hoc Designed Panels for Genetic Testing of Hereditary Cancer.
Feliubadaló L et al.
Scientific Reports, 2017
28050010 (PubMed )
Supplement: srep37984-s2.xls › Exome_geMODERATE_variants
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