Lee-kai Wang

Genotype-Phenotype Correlation in RBM10-Associated Syndromes. How Variant Function Shapes a Broad Phenotypic Landscape

The paper reports 37 new cases of RBM10 variants, identifies two phenotypic groups, and establishes a genotype-phenotype correlation based on functional studies.

Full-length isoform sequencing for resolving the molecular basis of Charcot-Marie-Tooth 2A

The paper uses full-length isoform sequencing to identify a splicing defect in MFN2 causing CMT2A in a patient with undiagnosed neuropathy.

De Novo Variants in MRTFB have gain of function activity in Drosophila and are associated with a novel neurodevelopmental phenotype with dysmorphic features.

The paper identifies de novo MRTFB variants in humans linked to a neurodevelopmental disorder and shows their gain of function activity in Drosophila with specific phenotypes.

Brain gene co-expression networks link complement signaling with convergent synaptic pathology in schizophrenia

The paper investigates the role of the complement system and C4A in schizophrenia by analyzing gene co-expression networks and finds that synaptic pathways, not the complement system, are linked to schizophrenia risk.

Whole genome sequencing in multiplex families reveals novel inherited and de novo genetic risk in autism

This study uses whole-genome sequencing in multiplex families to identify novel inherited and de novo genetic risk factors for autism, revealing 16 new ASD-risk genes and supporting 69 total genes.