Marena I. Trinidad

This paper develops yeast-selected SpCas9 variants with re-specified PAM recognition to enable allele-specific editing, demonstrating improved specificity and catalytic efficiency compared to PAM-broadened variants.

Ymu1 TnpB unwinds DNA via a long-lived partially unwound intermediate before a rarely stable open state; the WFR triple variant stabilizes both, boosting plant editing.

The paper improves a virus-mediated genome editing method in plants by using multiple gRNAs and an enhanced TnpB variant for efficient multiplexed editing.

This paper introduces spligation, a method using CRISPR-Csm complexes to generate chimeric RNA in living cells by enabling site-specific RNA cleavage and trans-ligation.

The paper introduces Gene Portals, a framework that integrates clinical, functional, and structural data for rare disease variant classification, demonstrating its utility across five gene-specific portals.

The paper identifies CRISPR-Cas12a variants with expanded PAM recognition, enabling targeting of ~25% of the human genome.

This study identifies a trade-off between PAM recognition breadth and CRISPR-Cas9 editing efficiency, proposing a two-step target capture mechanism to improve genome editing.

The paper evaluates variant effect predictions for ARSA gene variants, finding that a bootcamp-trained model outperformed others and that deep learning slightly improved performance over simpler methods.

The paper shows eIF3 binds to 3'-UTR termini of highly translated mRNAs, suggesting a general role in translation regulation and mRNA circularization.

The paper develops an RNA language model to predict mutations that enhance RNA thermostability using a new database of RNA sequences linked to environmental temperatures.

The paper shows that engineered GeoCas9 variants enhance genome editing by accelerating DNA unwinding, revealing a new role for the WED domain in this process.

The paper traces the evolutionary origin of eukaryotic RNA-guided endonucleases, showing they evolved from a specific clade of bacterial IS607 TnpB enzymes.

This study enhances CRISPR-Cas9-mediated HDR efficiency by fusing Cas9 with PRDM9, increasing HDR by three-fold and HDR:indel ratio by five-fold without increasing off-target effects.

The paper demonstrates programmable enveloped delivery vehicles (EDVs) that enable cell-specific genome editing in vivo and ex vivo by targeting CRISPR-Cas9 to specific cell types.

The paper investigates the functional consequences of SLC6A1 variants, finding haploinsufficiency underlies neurodevelopmental phenotypes and identifying missense residues sensitive to substitution.

The paper identifies bidirectional effect genes associated with short stature using GWAS data and validates their therapeutic potential through functional assays and clinical trial success.