Solène Conrad

The paper identifies de novo LDB1 variants linked to distinct neurodevelopmental phenotypes based on variant location and pathomechanisms, confirmed through in vitro and in vivo studies.

The paper identifies RNU2-2 variants as a frequent cause of neurodevelopmental disorders, both dominant and recessive, in a large cohort of individuals with rare disorders.

The paper identifies de novo variants in RNU4-2 and RNU5B-1 as causes of neurodevelopmental disorders by disrupting splicing, with variant location and allele phase influencing clinical severity.