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Publications

Mutations and structural variants arising during double-strand break repair.

Dalin S, Webster S, Sugawara N, et al. Mutations and structural variants arising during double-strand break repair. bioRxiv : the preprint server for biology. 2025. doi:10.1101/2025.02.28.640809

Recurrent patterns of widespread neuronal genomic damage shared by major neurodegenerative disorders.

Zhou Z, Luquette LJ, Dong G, et al. Recurrent patterns of widespread neuronal genomic damage shared by major neurodegenerative disorders. bioRxiv : the preprint server for biology. 2025. doi:10.1101/2025.03.03.641186

ADAT3 variants disrupt the activity of the ADAT tRNA deaminase complex and impair neuronal migration.

Del-Pozo-Rodriguez J, Tilly P, Lecat R, et al. ADAT3 variants disrupt the activity of the ADAT tRNA deaminase complex and impair neuronal migration. Brain : a journal of neurology. 2025. doi:10.1093/brain/awaf109

The metabolic sensor LKB1 regulates ILC3 homeostasis and mitochondrial function.

Fonseca-Pereira D, Bae S, Clay SL, et al. The metabolic sensor LKB1 regulates ILC3 homeostasis and mitochondrial function. Cell reports. 2025;44(4):115456. doi:10.1016/j.celrep.2025.115456

Integrative analysis of single-cell transcriptomics and genetic associations identify cell states associated with vascular disease.

Pepin ME, Schwartzman WE, Fang S, et al. Integrative analysis of single-cell transcriptomics and genetic associations identify cell states associated with vascular disease. Atherosclerosis. 2025;403:119108. doi:10.1016/j.atherosclerosis.2025.119108

The bleeding edge: broadening horizons for hematopoietic stem cell therapies.

Shelton SD, Sankaran VG. The bleeding edge: broadening horizons for hematopoietic stem cell therapies. Trends in molecular medicine. 2025. doi:10.1016/j.molmed.2025.03.003

Unique Signatures of Highly Constrained Genes Across Publicly Available Genomic Databases.

Schmitz-Abe K, Li Q, Greene S, et al. Unique Signatures of Highly Constrained Genes Across Publicly Available Genomic Databases. Genetics in medicine : official journal of the American College of Medical Genetics. 2025:101413. doi:10.1016/j.gim.2025.101413

Learning-augmented sketching offers improved performance for privacy preserving and secure GWAS.

Xu J, Zhu K, Cai J, et al. Learning-augmented sketching offers improved performance for privacy preserving and secure GWAS. iScience. 2025;28(3):112011. doi:10.1016/j.isci.2025.112011

Identification of small molecule inhibitors of PPM1D using an integrated drug discovery platform.

Shaw S, Jiang W, Rush J, et al. Identification of small molecule inhibitors of PPM1D using an integrated drug discovery platform. iScience. 2025;28(3):112069. doi:10.1016/j.isci.2025.112069

Shifting the needle in cognitive health: urgent action on modifiable risk factors to prevent dementia in Singapore.

Tan BYQ, Tan LF, Rosand J. Shifting the needle in cognitive health: urgent action on modifiable risk factors to prevent dementia in Singapore. Singapore medical journal. 2025. doi:10.4103/singaporemedj.SMJ-2024-216