Calwing Liao

This study identifies ultra-rare damaging variants in schizophrenia risk genes and shows they are associated with earlier hospitalizations, greater childhood adversity, and poorer neuropsychological outcomes across psychotic disorders.

The paper identifies a founder variant in ADAP1 associated with increased risk of schizophrenia and bipolar disorder in a Colombian genetic isolate.

Ultra-rare damaging coding variants in 87,959 schizophrenia cases and 150,587 controls implicate 40 genes (16 exome-wide, 24 at 5% FDR), half overlapping autism, developmental delay or bipolar genes.

The paper presents a large reference panel of 515,579 genomes to improve rare-variant imputation across underrepresented populations, enhancing accuracy for variants with frequencies as low as 0.002%.

The paper identifies 253 autism-associated genes using rare variation from 62,429 individuals and finds pleiotropy across physiological systems and developmental disorders.

The paper investigates how POGZ loss-of-function affects transcription factor binding and gene expression in neurons, revealing shared molecular changes with other NDD-related genes.

The paper identifies convergent coexpressed genes shared between common and rare variant risk genes in six neuropsychiatric disorders, revealing shared biological mechanisms and therapeutic targets.

This study identifies rare copy number duplications in protein coding regions as risk factors for essential tremor, but does not reliably identify specific susceptibility genes.

This study shows lithium partially rescues transcriptomic and epigenomic changes in AKAP11 heterozygous knockout neurons, suggesting potential therapeutic relevance for bipolar disorder and schizophrenia.

The paper introduces BGE, a sequencing method that combines low-pass whole genome and deep whole exome data, showing high accuracy and cost-effectiveness for genetic variant discovery.

This study identifies nine risk loci and two additional risk genes for restless legs syndrome through genome-wide association and transcriptome-wide analysis.

This paper introduces GISMO and GISMO-mis metrics to quantify gene loss and missense variation across mammals, identifying essential genes and improving gene-disease associations.

The paper quantifies regional missense mutational intolerance using 730,947 exomes to identify constrained gene regions and improve variant interpretation.

This study investigates transcriptomic and epigenomic changes in human neurons with heterozygous AKAP11 loss-of-function mutations, revealing dysregulation of enhancers and gene networks linked to bipolar disorder and schizophrenia.

The paper identifies novel autism risk genes by analyzing convergent coexpression patterns in brain samples, showing these genes may not be detected by sequencing studies.

This study analyzes rare and common variants in ALS using French-Canadian data, finding that PRS and rare variants independently affect risk but do not interact significantly.

The paper investigates the association between STMN2 CA repeats and ALS risk using whole genome sequencing data and finds no significant association.

This study identifies convergent transcriptomic targets of propranolol and primidone in essential tremor, highlighting potential biomarkers and molecular mechanisms for drug response.

This study shows chronic lithium treatment reduces neuronal excitability and shifts the excitatory/inhibitory balance toward inhibition in mouse cortical neurons.

This study identifies genetic associations with Parkinson disease motor subtypes using GWAS, finding novel variants and suggesting overlap with essential tremor genetics.

This study overexpresses STK32B in human cerebellar cells and identifies differentially expressed genes and pathways potentially relevant to essential tremor.

This study identifies nine genetic loci associated with age at onset in Machado-Joseph disease, suggesting roles for DNA repair and synaptic pathways in disease progression.

The paper investigates RFC1 repeat expansions in ataxia cohorts, identifying novel repeat conformations and their potential pathogenicity.

The paper identifies increased FLT3 expression in the dorsolateral prefrontal cortex as associated with Tourette Syndrome through transcriptome-wide association study.

This study performs a transcriptome-wide association study (TWAS) of ADHD, identifying 9 significant hits and linking them to dopaminergic and norepinephrine pathways, as well as several phenotypes.

This study performs a transcriptome-wide association study on 373,733 individuals to identify genes associated with miserableness, finding 104 signals across brain tissue panels and prioritizing 95 genes into credible sets.

The paper integrates multi-omics data to identify genes and pathways associated with essential tremor, finding dysregulated genes and enriched pathways in cerebellar regions.