Associated Papers
De novo missense variants in FBXO11 alter its protein expression and subcellular localization.
Gregor A et al.
Human Molecular Genetics, 2022
34505148 (PubMed )
Supplement: table_s3_050721_ddab265.xlsx › Sheet1
A data-driven architecture using natural language processing to improve phenotyping efficiency and accelerate genetic diagnoses of rare disorders.
Parikh JR et al.
Hgg Advances, 2021
34514437 (PubMed )
Supplement: mmc2.xlsx › Sheet1
Unique bioinformatic approach and comprehensive reanalysis improve diagnostic yield of clinical exomes.
Schmitz-Abe K et al.
European Journal of Human Genetics : Ejhg, 2019
De novo variants in FBXO11 cause a syndromic form of intellectual disability with behavioral problems and dysmorphisms.
Jansen S et al.
European Journal of Human Genetics : Ejhg, 2019
FBXO11 targets BCL6 for degradation and is inactivated in diffuse large B-cell lymphomas.
Duan S et al.
Nature, 2012
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