Publications

Multi-trait and multi-ancestry genetic analysis of comorbid lung diseases and traits improves genetic discovery and polygenic risk prediction.

He Y, Lu W, Jee YH, et al. Multi-trait and multi-ancestry genetic analysis of comorbid lung diseases and traits improves genetic discovery and polygenic risk prediction. medRxiv : the preprint server for health sciences. 2024. doi:10.1101/2024.08.25.24312558

Single-cell multi-omics map of human fetal blood in Down syndrome.

Marderstein AR, De Zuani M, Moeller R, et al. Single-cell multi-omics map of human fetal blood in Down syndrome. Nature. 2024. doi:10.1038/s41586-024-07946-4

A foundation model for clinician-centered drug repurposing.

Huang K, Chandak P, Wang Q, et al. A foundation model for clinician-centered drug repurposing. Nature medicine. 2024. doi:10.1038/s41591-024-03233-x

Comparing Ancestry Standardization Approaches for a Transancestry Colorectal Cancer Polygenic Risk Score.

Rosenthal EA, Hsu L, Thomas M, et al. Comparing Ancestry Standardization Approaches for a Transancestry Colorectal Cancer Polygenic Risk Score. Genetic epidemiology. 2024. doi:10.1002/gepi.22590

Amphiphilic shuttle peptide delivers base editor ribonucleoprotein to correct the CFTR R553X mutation in well-differentiated airway epithelial cells.

Kulhankova K, Cheng AX, Traore S, et al. Amphiphilic shuttle peptide delivers base editor ribonucleoprotein to correct the CFTR R553X mutation in well-differentiated airway epithelial cells. Nucleic acids research. 2024. doi:10.1093/nar/gkae819

Forebrain Eml1 depletion reveals early centrosomal dysfunction causing subcortical heterotopia.

Zaidi D, Chinnappa K, Yigit BN, et al. Forebrain Eml1 depletion reveals early centrosomal dysfunction causing subcortical heterotopia. The Journal of cell biology. 2024;223(12). doi:10.1083/jcb.202310157

Structure and inhibition mechanisms of essential transporter efflux protein A.

Khandelwal NK, Gupta M, Gomez JE, et al. Structure and inhibition mechanisms of essential transporter efflux protein A. bioRxiv : the preprint server for biology. 2024. doi:10.1101/2024.09.04.611325

Corrigendum to "Brain health scores to predict neurological outcomes from electronic health records" [Int. J. Med. Inform. (2023) 105270].

Fernandes M, Sun H, Chemali Z, et al. Corrigendum to "Brain health scores to predict neurological outcomes from electronic health records" [Int. J. Med. Inform. (2023) 105270]. International journal of medical informatics. 2024:105633. doi:10.1016/j.ijmedinf.2024.105633

Prenatal Ultrasonographic Features Associated With ARSL and X-Linked Chondrodysplasia Punctata 1 (CDPX1): Literature Review and Case Series.

Broeren E, Stover S, Bennett K, et al. Prenatal Ultrasonographic Features Associated With ARSL and X-Linked Chondrodysplasia Punctata 1 (CDPX1): Literature Review and Case Series. Prenatal diagnosis. 2024. doi:10.1002/pd.6649

Federated analysis of autosomal recessive coding variants in 29,745 developmental disorder patients from diverse populations.

Chundru K, Zhang Z, Walter K, et al. Federated analysis of autosomal recessive coding variants in 29,745 developmental disorder patients from diverse populations. Nature genetics. 2024. doi:10.1038/s41588-024-01910-8