Abin Abraham

Haplotype editing with CRISPR/Cas9 as a therapeutic approach for dominant-negative missense mutations in NEFL

This paper demonstrates haplotype editing with CRISPR/Cas9 to target NEFL missense mutations in iPSC-derived motor neurons, showing therapeutic potential and challenges in disrupting mutant allele expression.

Discovering latent subtypes of preterm birth and genetic risk using tensor decomposition on electronic health records

This study uses tensor decomposition on EHR data to identify latent subtypes of preterm birth and links them to genetic risk factors for comorbid diseases.

Disease-specific prioritization of non-coding GWAS variants based on chromatin accessibility

The paper develops a disease-specific variant prioritization method that improves the association of non-coding variants with diseases by aggregating tissue/cell-type specific scores.

Genetic effects on the timing of parturition and links to fetal birth weight

This study identifies genetic loci associated with gestational duration and preterm delivery, showing maternal and fetal genetic effects and antagonistic pleiotropy with birth weight.