Diana 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 neu...

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

Abstract Pathogenic germline variants in SDHB are associated with an increased risk for tumors such as pheochromocytoma and paraganglioma. However, limited functional evidence for rare variants poses a major challenge for clinical decision making. To systematically investigate po...