Ophir Geminder

MD-PhD Candidate @Hujimed @hebrewU

Learning the importance of splicing in neurodevelopment

[Ophir Geminder @ophir_geminder]

Our work describes for the first time a mutation in a core spliceosome subunit as a potential cause for neurodevelopmental syndromes.

[Eden Engal @EdenEngal_]

Happy to share our new preprint!
In this study, we report on 11 patients with a variable neurodevelopmental syndrome caused by homozygous LOF variants in WBP4, a spliceosome complex component. https://t.co/fw008zscgN
@MaayanSalton @ophir_geminder