Skip to content
Log in
Sponsored AI AM CLAUDE, A Beginner's Guide: Learn the basics of working with AI AI AM CLAUDE, A Beginner's Guide: Learn the basics of working with AI

Author

Q. Waisfisz

h-index 55 View on Semantic Scholar

We have 2 of 187 papers

We haven’t gathered this author’s papers yet. Follow them and we’ll fetch their work.

Not the right person? Other researchers publish under this name.

Open access Sep 2026

Haploinsufficiency, de novo and biallelic missense variants in CSMD2 are associated with neurodevelopmental disorders

CUB and Sushi domains-containing CSMD proteins are involved in neuron development. Variants in the CSMD1-3 paralogs were GWAS-associated with cognition, attention-deficit hyperactivity disorder (ADHD), schizophrenia and brain structure, suggesting that these genes could be linked to neurodevelopmental disorders (NDD)....

C. Pailler-Pradeau, M. Lemée, Caterina Cevallos et al. · 0 citations
Open access Jun 2026

Hemizygous loss-of-function variants of EIF1AX are associated with a syndromic neurodevelopmental disorder

Overall, EIF1AX is a novel gene for which loss-of-function variants appear to produce syndromic neurodevelopmental disorders in males, and its pathogenicity was evaluated using a molecular dynamic simulation and transgenic Drosophila models.

Kazuyuki Komatsu, Atsushi Sugie, Yohei Nitta et al. · 1 citation

We use cookies to run the site and, with your consent, for analytics and to show ads. See our Cookie Policy.