Timothy W. Yu

This study uses a humanized mouse model to show that antisense oligonucleotides reduce seizure activity and mortality in DRPLA.

The paper presents a hybrid transcriptome assembly and annotation of Japanese macaque prefrontal cortex using short- and long-read RNA sequencing data.

The paper presents a framework for prioritizing targets and patients for antisense oligonucleotide therapies in rare diseases, focusing on equitable and systematic decision-making.

This study shows that restoring the ALDH5A1 gene in a mouse model of SSADHD reverses hyperactivity and reduces GHB levels, improving survival.

This paper demonstrates that antisense oligonucleotides targeting human ATN1 protect against DRPLA pathology in a fully humanized mouse model.

The paper estimates the proportion of genetic diagnoses in a pediatric cohort that are amenable to antisense oligonucleotide therapy, finding 4.9% eligible or likely eligible.

The paper presents consensus guidelines for assessing pathogenic variants' eligibility for antisense oligonucleotide treatments, including classification criteria and considerations for different therapeutic approaches.

This study investigates RFX3's role in human neurons, showing that monoallelic loss disrupts synaptic gene expression and activity-dependent responses by impairing CREB binding.

The paper demonstrates that ASO therapy targeting KCNT1 reduces seizures in a severe childhood epilepsy condition by normalizing neuronal function in prenatally enriched neurons.

This study shows that ATM deficiency causes microglial activation, which contributes to neurodegeneration in Ataxia-Telangiectasia by inducing cytotoxicity in neurons.

The paper evaluates unanticipated monogenic disease risks found in newborns through genomic screening, finding most risks are actionable and lead to medical interventions.

The paper identifies RFX3, RFX4, and RFX7 mutations as causes of neurodevelopmental disorders including autism, ADHD, and intellectual disability, and links these genes to ASD risk genes through bioinformatic analysis.