Skip to content
Log in
Sponsored AI Networking Cookbook: Practical recipes for AI-assisted network automation and development AI Networking Cookbook: Practical recipes for AI-assisted network automation and development

Author

C. Rooryck

h-index 39 View on Semantic Scholar

We have 3 of 146 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 Aug 2026

Towards routine genetic testing of repeat expansions in neurogenetic diseases using multiplex CRISPR-Cas9-targeted long read sequencing

This work evaluated CRISPR-Cas9-mediated target enrichment coupled to Oxford Nanopore Technologies (ONT) long read sequencing, to accelerate and improve the time-consuming molecular diagnosis of repeat expansion disorders.

P. Fergelot, C. Boury, B. Penaud et al. · 0 citations
Open access Jul 2026

Delineation of a Novel Mirror Syndrome: NFIC Variants Cause Syndromic Intellectual Disability With Macrocephaly

NFIC-related disorder represents a novel neurodevelopmental syndrome characterized by intellectual disability and macrocephaly, highlighting the importance of NFIC dosage supporting a mirror-syndrome model.

Nathalie Vanden Eynde, L. Hérissant, E. Landais et al. · 0 citations
Open access Jul 2026

Further characterization of the BRSK2-associated neurodevelopmental disorder.

Variants in BRSK2, encoding brain specific kinase-2, have recently been associated with an autosomal dominant neurodevelopmental disorder (NDD). We have assembled 52 cases with heterozygous BRSK2 variants and variable neurodevelopmental phenotypes with frequent neuropsychiatric and behavioral symptoms. The variant spec...

Palak Singhal, Tzung-Chien Hsieh, Nadja Ehmke et al. · 0 citations

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