Benjamin Cogné

1. Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome
   2022/04/01 by Sarah Stephenson, Sarah E.M. Stephenson, Gregory Costain +127 · 20 citations
   Biochemistry, Genetics and Molecular Biology · #Genomic variations and chromosomal abnormalities #Genetics and Neurodevelopmental Disorders #Ubiquitin and proteasome pathways
2. ALG13 X‐linked intellectual disability: New variants, glycosylation analysis, and expanded phenotypes
   2021/03/18 by Hind Alsharhan, Miao He, Andrew C. Edmondson +30 · 1 citation
   Biochemistry, Genetics and Molecular Biology · #Biochemical and Molecular Research #Genomics and Rare Diseases #Glycosylation and Glycoproteins Research
3. Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption
   2025/05/16 by Caroline Nava, Benjamin Cogné, Amandine Santini +97 · 1 voice · 1 citation
   Biochemistry, Genetics and Molecular Biology · #RNA Research and Splicing #RNA modifications and cancer #RNA and protein synthesis mechanisms