Associated Papers
Protein domains provide a new layer of information for classifying human variations in rare diseases.
Corcuff M et al.
Frontiers in Bioinformatics, 2023
36896423 (PubMed )
Supplement: Table1.XLSX › Supplementary_Table_1
Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.
Pejaver V et al.
American Journal of Human Genetics, 2022
36413997 (PubMed )
Supplement: mmc2.xlsx › mmc2
Candidate genes and sequence variants for susceptibility to mycobacterial infection identified by whole-exome sequencing.
Varzari A et al.
Frontiers in Genetics, 2022
Genomic and Transcriptomic Characterization Links Cell Lines with Aggressive Head and Neck Cancers.
Cheng H et al.
Cell Reports, 2018
30380422 (PubMed )
Supplement: NIHMS1511993-supplement-6.xlsx › Table_S5
Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration.
Seddon JM et al.
Nature Genetics, 2013
24036952 (PubMed )
Supplement: NIHMS512112-supplement-2.xlsx › Supplementary_Table_2B
High-throughput retina-array for screening 93 genes involved in inherited retinal dystrophy.
Song J et al.
Investigative Ophthalmology & Visual Science, 2011
Case-control genetic association study of fibulin-6 (FBLN6 or HMCN1) variants in age-related macular degeneration (AMD).
Fisher SA et al.
Human Mutation, 2007
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