Christian R. Marshall

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 revises a human diploid genome assembly using a scalable workflow with Oxford Nanopore reads, achieving high accuracy and contiguity without ultra-long reads or other technologies.

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.

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

The paper analyzes VUS rates in genetic testing and finds lower rates in exome/genome sequencing compared to multi-gene panels, suggesting improvements in variant reporting practices.

This study identifies somatic copy number variants (sCNVs) in schizophrenia cases, revealing their contribution to risk and specific NRXN1 disruptions.

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 chromatin regulatory genes as genetic modifiers of conotruncal heart defects in 22q11.2 deletion syndrome and links them to sporadic congenital heart disease.

The paper investigates the association between gene copy number variation and mental health traits in children, finding links to ADHD, OCD, and cognitive biomarkers.

This paper conducts a multi-ancestry GWAS meta-analysis of suicide attempt, identifying 12 genome-wide significant loci and finding shared genetic risks with ADHD, smoking, and risk tolerance.

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 identifies a recurrent SHANK3 frameshift variant in Autism Spectrum Disorder, showing de novo mutations and variable expressivity.

This study identifies genetic loci associated with suicide attempts and shows shared genetic architecture with psychiatric disorders and non-psychiatric risk factors.

The paper identifies clinically relevant genetic variants in TOF patients and constructs a protein interaction network linking these variants to disease mechanisms.

The paper identifies 21 candidate haploinsufficient genes associated with congenital heart disease through integrative analysis of CNVs and DNMs in CHD cases and controls.

This paper identifies ultra-rare variants in NOTCH1 and FLT4 associated with tetralogy of Fallot using burden analysis of genome sequences from 231 individuals.