Author

P. Fergelot

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Open access Sep 2026

Monoallelic loss-of-function variants in ZNF536 are associated with a neurodevelopmental disorder with prominent behavioral features

Clinical cohort findings that rare monoallelic LoF variants in ZNF536 underlie a genetic neurodevelopmental disorder characterized by developmental delay, autism, and behavioral dysregulation support a role for ZNF536 as a dosage-sensitive regulator of cortical development.

S. Hiatt, Wen-Jing Zhao, Zhong-Qing Wang et al. · American Journal of Human Ge... · 0 citations

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. · Scientific Reports · 0 citations

Open access Aug 2026

Functional Homology of WIPI4 and Atg18 Enables WDR45 Variant Interpretation for BPAN Diagnosis

This study identified the yeast ortholog of WDR45 and established a Saccharomyces cerevisiae-based functional complementation assay to assess the pathogenicity of WDR45 variants, establishing a simple, robust, and scalable yeast model that enables functional interpretation of WDR45 variants and improves molecular diagn...

Vincent Morin, C. Durand, C. Angelini et al. · International Journal of Mol... · 0 citations