Evgueni A. Ivakine

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 uses long-read sequencing to detect transgene concatenation and off-target integration in a mouse model, revealing hidden genomic complexity and phenotypic disruption.

The paper identifies a novel TUBB mutation linked to both ciliopathy and tubulinopathy brain features, showing it impairs ciliogenesis by altering microtubule dynamics.

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 uses Saturation Genome Editing to functionally assess VHL variants, identifying pathogenic alleles and their mechanisms in cancer.

The paper generates a mouse model with an in-frame deletion of exons 52-55 in Dmd, mimicking Becker Muscular Dystrophy, and characterizes its long-term effects on muscle and heart function.

This paper introduces a knock-in mouse model of ATR-X syndrome carrying a common patient mutation, showing craniofacial defects, microcephaly, and impaired neurological function.

This paper describes a CRISPR/Cas9-based method to create a mouse model with a tandem duplication of Irak1 and Mecp2, which exhibits MDS-like neurological and immune phenotypes.

The paper uses CRISPR prime editing to functionally interpret variants in NPC1 and BRCA2 genes by haploidizing cell lines and scoring 256 and 465 variants respectively.

This paper develops a haploid cell model for Niemann-Pick disease type C to characterize patient variants and enable clinical interpretation.

This paper demonstrates that upregulating a disease modifier gene using CRISPR/dCas9 can rescue muscular dystrophy in mice, showing that muscle fibrosis may be reversible.