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Publications

Building the first base editors.

Waterbury AL, Iram I, Liau BB. Building the first base editors. Nature chemical biology. 2025;21(1):16-17. doi:10.1038/s41589-024-01790-3

Analysis-ready VCF at Biobank scale using Zarr.

Czech E, Millar TR, Tyler W, et al. Analysis-ready VCF at Biobank scale using Zarr. bioRxiv : the preprint server for biology. 2025. doi:10.1101/2024.06.11.598241

Phyla: Towards a foundation model for phylogenetic inference.

Shen A, Ektefaie Y, Jain L, Farhat M, Zitnik M. Phyla: Towards a foundation model for phylogenetic inference. bioRxiv : the preprint server for biology. 2025. doi:10.1101/2025.01.17.633626

Insights into global antimicrobial resistance dynamics through the sequencing of enteric bacteria from U.S. international travelers.

Sridhar S, Worby CJ, Bronson RA, et al. Insights into global antimicrobial resistance dynamics through the sequencing of enteric bacteria from U.S. international travelers. bioRxiv : the preprint server for biology. 2025. doi:10.1101/2025.01.27.635056

ClinGen recuration of hearing loss associated-genes demonstrates significant changes in gene-disease validity over time.

Tshering KC, DiStefano MT, Oza AM, et al. ClinGen recuration of hearing loss associated-genes demonstrates significant changes in gene-disease validity over time. Genetics in medicine : official journal of the American College of Medical Genetics. 2025:101392. doi:10.1016/j.gim.2025.101392

The subtype-free average causal effect for heterogeneous disease etiology.

Sasson A, Wang M, Ogino S, Nevo D. The subtype-free average causal effect for heterogeneous disease etiology. Biometrics. 2025;81(1). doi:10.1093/biomtc/ujaf016

Genetic and Iatrogenic Defects in Peripheral Tolerance Associated with Anti-Nephrin Antibody-Associated Minimal Change Disease.

Jefferson A, Chen K, Hingorani S, et al. Genetic and Iatrogenic Defects in Peripheral Tolerance Associated with Anti-Nephrin Antibody-Associated Minimal Change Disease. Glomerular diseases. 2025;5(1):74-83. doi:10.1159/000543334

Label-Free Detection of Biochemical Changes during Cortical Organoid Maturation via Raman Spectroscopy and Machine Learning.

Bruno G, Lipinski M, Kobayashi-Kirschvink KJ, et al. Label-Free Detection of Biochemical Changes during Cortical Organoid Maturation via Raman Spectroscopy and Machine Learning. Analytical chemistry. 2025. doi:10.1021/acs.analchem.4c05661

Machine Learning-Based Prediction of Substance Use in Adolescents in Three Independent Worldwide Cohorts: Algorithm Development and Validation Study.

Kim S, Kim H, Kim S, et al. Machine Learning-Based Prediction of Substance Use in Adolescents in Three Independent Worldwide Cohorts: Algorithm Development and Validation Study. Journal of medical Internet research. 2025;27:e62805. doi:10.2196/62805

PTEN mutations impair CSF dynamics and cortical networks by dysregulating periventricular neural progenitors.

DeSpenza T, Kiziltug E, Allington G, et al. PTEN mutations impair CSF dynamics and cortical networks by dysregulating periventricular neural progenitors. Nature neuroscience. 2025. doi:10.1038/s41593-024-01865-3