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Publications

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

Lipoprotein(a) Concentrations Are Independent of Polygenic Score for Coronary Artery Disease.

Trinh MN, Pournamdari A, Small AM, Peloso GM, Patel AP, Natarajan P. Lipoprotein(a) Concentrations Are Independent of Polygenic Score for Coronary Artery Disease. JACC. Advances. 2024;3(2). doi:10.1016/j.jacadv.2023.100800

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

Identification and Analysis of Axolotl Homologs for Proteins Implicated in Human Neurodegenerative Proteinopathies.

James LM, Strickland Z, Lopez N, Whited JL, Maden M, Lewis J. Identification and Analysis of Axolotl Homologs for Proteins Implicated in Human Neurodegenerative Proteinopathies. Genes. 2024;15(3). doi:10.3390/genes15030310

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

A noncoding regulatory variant in IKZF1 increases acute lymphoblastic leukemia risk in Hispanic/Latino children.

de Smith AJ, Wahlster L, Jeon S, et al. A noncoding regulatory variant in IKZF1 increases acute lymphoblastic leukemia risk in Hispanic/Latino children. Cell genomics. 2024:100526. doi:10.1016/j.xgen.2024.100526

Polygenic Scores and Preclinical Cardiovascular Disease in Individuals With HIV: Insights From the REPRIEVE Trial.

Zou RS, Ruan Y, Truong B, et al. Polygenic Scores and Preclinical Cardiovascular Disease in Individuals With HIV: Insights From the REPRIEVE Trial. Journal of the American Heart Association. 2024:e033413. doi:10.1161/JAHA.123.033413

Tissue-specific silencing of integrated transgenes achieved through endogenous RNA interference in .

Chen S, Liu W, Xiong L, Tao Z, Zhao D. Tissue-specific silencing of integrated transgenes achieved through endogenous RNA interference in . RNA biology. 2024;21(1):1-10. doi:10.1080/15476286.2024.2332856

The multimodality cell segmentation challenge: toward universal solutions.

Ma J, Xie R, Ayyadhury S, et al. The multimodality cell segmentation challenge: toward universal solutions. Nature methods. 2024. doi:10.1038/s41592-024-02233-6