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Publications

Postmortem neuropathology in early Huntington disease.

Hedreen JC, Berretta S, White CL Iii. Postmortem neuropathology in early Huntington disease. Journal of neuropathology and experimental neurology. 2024. doi:10.1093/jnen/nlae022

Randomized Phase II Study Evaluating the Addition of Pembrolizumab to Radium-223 in Metastatic Castration-resistant Prostate Cancer.

Choudhury AD, Kwak L, Cheung A, et al. Randomized Phase II Study Evaluating the Addition of Pembrolizumab to Radium-223 in Metastatic Castration-resistant Prostate Cancer. Cancer immunology research. 2024:OF1-OF15. doi:10.1158/2326-6066.CIR-22-0306

Prevalence, Morbidity, and Mortality of Men With Sex Chromosome Aneuploidy in the Million Veteran Program Cohort.

Davis SM, Teerlink C, Lynch JA, et al. Prevalence, Morbidity, and Mortality of Men With Sex Chromosome Aneuploidy in the Million Veteran Program Cohort. JAMA network open. 2024;7(3):e244113. doi:10.1001/jamanetworkopen.2024.4113

Mapping cell-to-tissue graphs across human placenta histology whole slide images using deep learning with HAPPY.

Vanea C, Džigurski J, Rukins V, et al. Mapping cell-to-tissue graphs across human placenta histology whole slide images using deep learning with HAPPY. Nature communications. 2024;15(1):2710. doi:10.1038/s41467-024-46986-2

Comprehensive mutational scanning of EGFR reveals TKI sensitivities of extracellular domain mutants.

Hayes TK, Aquilanti E, Persky NS, et al. Comprehensive mutational scanning of EGFR reveals TKI sensitivities of extracellular domain mutants. Nature communications. 2024;15(1):2742. doi:10.1038/s41467-024-45594-4

Genetic variation across and within individuals.

Yu Z, Coorens THH, Uddin MM, Ardlie KG, Lennon N, Natarajan P. Genetic variation across and within individuals. Nature reviews. Genetics. 2024. doi:10.1038/s41576-024-00709-x

Protein-altering variants at copy number-variable regions influence diverse human phenotypes.

Hujoel MLA, Handsaker RE, Sherman MA, et al. Protein-altering variants at copy number-variable regions influence diverse human phenotypes. Nature genetics. 2024. doi:10.1038/s41588-024-01684-z

Perspectives of Oncologists on the Ethical Implications of Using Artificial Intelligence for Cancer Care.

Hantel A, Walsh TP, Marron JM, et al. Perspectives of Oncologists on the Ethical Implications of Using Artificial Intelligence for Cancer Care. JAMA network open. 2024;7(3):e244077. doi:10.1001/jamanetworkopen.2024.4077

Advancing access to genome sequencing for rare genetic disorders: recent progress and call to action.

Jobanputra V, Schroeder B, Rehm HL, et al. Advancing access to genome sequencing for rare genetic disorders: recent progress and call to action. NPJ genomic medicine. 2024;9(1):23. doi:10.1038/s41525-024-00410-2

Genome and RNA sequencing boost neuromuscular diagnoses to 62% from 34% with exome sequencing alone.

Marchant RG, Bryen SJ, Bahlo M, et al. Genome and RNA sequencing boost neuromuscular diagnoses to 62% from 34% with exome sequencing alone. Annals of clinical and translational neurology. 2024. doi:10.1002/acn3.52041