D. Le Duc

Lithium chloride in vitro treatment shows potential to rescue the neuronal phenotype caused by WDFY3 haploinsufficiency.

We provide a comprehensive phenotypic characterization of loss-of-function (LoF) variants in WDFY3 based on the largest cohort reported to date (n = 32). Our findings define a monogenic disorder marked by neuropsychiatric features (including autism and ADHD), mild to moderate neurodevelopmental delay, and variable brai...

Established polygenic risk score for hypercholesterinemia demonstrates discriminatory value and risk stratification in an independent German Cohort

Polygenic risk scores (PRS) have emerged as promising tools for stratifying inherited disease risk, yet their translation into clinical practice is constrained by a critical and frequently unmet requirement: demonstration that scores derived in one cohort retain discriminatory value when applied independently in a diff...

Minigene-based characterization and classification of splice-associated variants in succinate dehydrogenase B

It is demonstrated that targeted sequencing of minigene-derived transcripts provides a scalable approach to evaluate splice-associated SDHB variants and improve variant classification.

Beyond in silico prediction: multi-omics to identify a pathogenic deep intronic HNRNPK variant in Au-Kline syndrome.