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Publications

High-quality nuclei isolation from postmortem human heart muscle tissues for single-cell studies.

Araten S, Mathieu R, Jetly A, et al. High-quality nuclei isolation from postmortem human heart muscle tissues for single-cell studies. Journal of molecular and cellular cardiology. 2023;179:7-17. doi:10.1016/j.yjmcc.2023.03.010

A cryptic pathogenic NDUFV1 variant identified by RNA-seq in a patient with normal complex I activity in muscle and transient magnetic resonance imaging changes.

Kiss S, Christodoulou J, Thorburn DR, et al. A cryptic pathogenic NDUFV1 variant identified by RNA-seq in a patient with normal complex I activity in muscle and transient magnetic resonance imaging changes. American journal of medical genetics. Part A. 2023;191(6):1599-1606. doi:10.1002/ajmg.a.63170

It is better to light a candle than to curse the darkness: single-cell transcriptomics sheds new light on pancreas biology and disease.

Cephas AT, Hwang WL, Maitra A, Parnas O, DelGiorno KE. It is better to light a candle than to curse the darkness: single-cell transcriptomics sheds new light on pancreas biology and disease. Gut. 2023;72(6):1211-1219. doi:10.1136/gutjnl-2022-329313

Impact of an Expanded Definition of Family History on Outcomes of Active Surveillance for Prostate Cancer.

Schneider AC, Chandrasekar T, Bowler N, et al. Impact of an Expanded Definition of Family History on Outcomes of Active Surveillance for Prostate Cancer. The Journal of urology. 2023;209(6):1112-1119. doi:10.1097/JU.0000000000003396

Transfer learning identifies sequence determinants of cell-type specific regulatory element accessibility.

Salvatore M, Horlacher M, Marsico A, Winther O, Andersson R. Transfer learning identifies sequence determinants of cell-type specific regulatory element accessibility. NAR genomics and bioinformatics. 2023;5(2):lqad026. doi:10.1093/nargab/lqad026

Predicting ExWAS findings from GWAS data: a shorter path to causal genes.

Liang KYH, Farjoun Y, Forgetta V, et al. Predicting ExWAS findings from GWAS data: a shorter path to causal genes. Human genetics. 2023;142(6):749-758. doi:10.1007/s00439-023-02548-y

Soluble adhesion molecules and functional outcome after ischemic stroke: A Mendelian randomization study.

Wang M, Zhang Z, Liu D, et al. Soluble adhesion molecules and functional outcome after ischemic stroke: A Mendelian randomization study. Journal of stroke and cerebrovascular diseases : the official journal of National Stroke Association. 2023;32(6):107136. doi:10.1016/j.jstrokecerebrovasdis.2023.107136

Double trouble: Synchronous and metachronous primaries confound ctHPVDNA monitoring.

Naegele S, Efthymiou V, Hirayama S, et al. Double trouble: Synchronous and metachronous primaries confound ctHPVDNA monitoring. Head & neck. 2023;45(6):E25-E30. doi:10.1002/hed.27378

Relationship of HPV16 E6 seropositivity with circulating tumor tissue modified HPV16 DNA before head and neck cancer diagnosis.

Rettig EM, Waterboer T, Sim E, et al. Relationship of HPV16 E6 seropositivity with circulating tumor tissue modified HPV16 DNA before head and neck cancer diagnosis. Oral oncology. 2023;141:106417. doi:10.1016/j.oraloncology.2023.106417

Systematic identification of anticancer drug targets reveals a nucleus-to-mitochondria ROS-sensing pathway.

Zhang J, Simpson C, Berner J, et al. Systematic identification of anticancer drug targets reveals a nucleus-to-mitochondria ROS-sensing pathway. Cell. 2023;186(11):2361-2379.e25. doi:10.1016/j.cell.2023.04.026