Adam Shlien

Extensive and differential platinum chemotherapy mutagenesis in children

This study uses duplex sequencing to analyze platinum chemotherapy-induced mutagenesis in pediatric tissues, revealing extensive mutational signatures and tissue-specific effects.

Assessing the diagnostic impact of blood transcriptome profiling in a pediatric cohort previously assessed by genome sequencing

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

DNA Damage Response Deficiency Enhances Neuroblastoma Progression and Sensitivity to Combination PARP and ATR Inhibition

This study shows DDR gene mutations enhance neuroblastoma progression and sensitivity to PARP + ATR inhibitors in zebrafish models and human cells.

tp53 R217H and R242H Mutant Zebrafish Exhibit Dysfunctional p53 Hallmarks and Recapitulate Li-Fraumeni Syndrome Phenotypes

This study characterizes zebrafish models of Li-Fraumeni syndrome with TP53 mutations, showing dysfunctional p53 pathways, tumor development, and mutation-specific phenotypes.

BARD1 germline variants induce haploinsufficiency and DNA repair defects in neuroblastoma

This study identifies BARD1 germline variants associated with reduced BARD1 expression and DNA repair defects in neuroblastoma, showing haploinsufficiency and increased genomic instability.

A systematic assessment of the impact of rare canonical splice site variants on splicing using functional and in silico methods

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.

Life without mismatch repair

The paper quantifies mismatch repair (MMR) activity in human tissues by analyzing mutation rates in individuals with constitutional MMR deficiency, revealing genotype-specific mutational signatures and the role of MMR components in DNA repair.

Successful optimization of CRISPR/Cas9-mediated defined point mutation knock-in using allele-specific PCR assays in zebrafish

The paper optimizes CRISPR/Cas9-mediated point mutation knock-in in zebrafish using allele-specific PCR assays and identifies key factors improving knock-in efficiency and reducing false positives.