Associated Papers
Scalable approaches for generating, validating and incorporating data from high-throughput functional assays to improve clinical variant classification.
Padigepati SR et al.
Human Genetics, 2024
39085601 (PubMed )
Supplement: 439_2024_2691_MOESM2_ESM.xlsx › IFIH1
Dissecting genetics of spectrum of epilepsies with eyelid myoclonia by exome sequencing.
Coppola A et al.
Epilepsia, 2024
Identification of variants in genes associated with autoinflammatory disorders in a cohort of patients with psoriatic arthritis.
Atschekzei F et al.
Rmd Open, 2022
Multiple Sclerosis patients carry an increased burden of exceedingly rare genetic variants in the inflammasome regulatory genes.
Vidmar L et al.
Scientific Reports, 2019
31235738 (PubMed )
Supplement: 41598_2019_45598_MOESM2_ESM.xlsx › Sheet1
Mutational heterogeneity in non-serous ovarian cancers.
Teer JK et al.
Scientific Reports, 2017
28852190 (PubMed )
Supplement: 41598_2017_10432_MOESM2_ESM.xlsx › Supp_Table_11
Recurrent rhinovirus infections in a child with inherited MDA5 deficiency.
Lamborn IT et al.
The Journal of Experimental Medicine, 2017
28606988 (PubMed )
Supplement: JEM_20161759_TableS3.xlsx › Sheet6
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