Gregory Costain

This paper identifies population-scale SNV targets for allele-specific ASO therapy design, achieving high coverage across diverse ancestry groups and supporting clinical relevance.

The paper describes a structured initiative to assess patient eligibility for genetic medicines, showing high uptake and feasibility of a multidisciplinary approach.

The paper develops a scalable platform for designing exon-skipping ASOs to treat genetic diseases by identifying dispensable exons and validating their therapeutic potential.

The paper identifies PSMC5 variants causing neurodevelopmental disorders and shows their impact on neuronal function and immune signaling, suggesting therapeutic targets.

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 describes a consultation service for evaluating genomic research findings in a paediatric hospital, highlighting its role in assessing variant pathogenicity and managing clinical implications.

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

This study evaluates how blood transcriptome profiling adds value to genome sequencing in diagnosing rare genetic disorders in a pediatric cohort.

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 shows that partial loss of DOT1L causes transcriptional, morphological, and behavioral defects in neurons across multiple models.

The paper identifies AP2S1 variants linked to neurodevelopmental disorders by showing they impair clathrin-mediated endocytosis and disrupt protein interactions.

The paper compares pathogenicity features of missense variants in non-human livestock to human genomic data, finding higher odds of pathogenic classification in cross-species variants.

This study uses cancer mutation data and machine learning to predict the pathogenicity of germline missense variants, showing strong performance in identifying disease-causing variants.

The paper reviews phenotype reporting in genetic disorders and proposes guidelines to improve clinical relevance.

The paper assesses the impact of rare canonical splice site variants on splicing using functional and in silico methods, finding that 24% of variants do not cause loss-of-function.

The paper identifies genome-wide rare tandem repeat expansions associated with schizophrenia risk by comparing cases and controls.

This study identifies 135 ASD-associated protein-coding genes using whole-genome sequencing data from 11,312 individuals and exome sequencing from over 18,000 trios, with a false discovery rate of 80%.

The paper develops a cell-based assay to identify pathogenic CAD variants and identifies 11 individuals likely to benefit from uridine therapy.