Publications

Molecular map of chronic lymphocytic leukemia and its impact on outcome.

Knisbacher BA, Lin Z, Hahn CK, et al. Molecular map of chronic lymphocytic leukemia and its impact on outcome. Nat Genet. 2022. doi:10.1038/s41588-022-01140-w.

A cross-disorder dosage sensitivity map of the human genome.

Collins RL, Glessner JT, Porcu E, et al. A cross-disorder dosage sensitivity map of the human genome. Cell. 2022;185(16):3041-3055.e25. doi:10.1016/j.cell.2022.06.036.

Nanozyme-catalysed CRISPR assay for preamplification-free detection of non-coding RNAs.

Broto M, Kaminski MM, Adrianus C, et al. Nanozyme-catalysed CRISPR assay for preamplification-free detection of non-coding RNAs. Nat Nanotechnol. 2022. doi:10.1038/s41565-022-01179-0.

Transcriptome variation in human tissues revealed by long-read sequencing.

Glinos DA, Garborcauskas G, Hoffman P, et al. Transcriptome variation in human tissues revealed by long-read sequencing. Nature. 2022. doi:10.1038/s41586-022-05035-y.

Duration of Symptoms and Association With Positive Home Rapid Antigen Test Results After Infection With SARS-CoV-2.

Cosimi LA, Kelly C, Esposito S, et al. Duration of Symptoms and Association With Positive Home Rapid Antigen Test Results After Infection With SARS-CoV-2. JAMA Netw Open. 2022;5(8):e2225331. doi:10.1001/jamanetworkopen.2022.25331.

A first update on mapping the human genetic architecture of COVID-19.

A first update on mapping the human genetic architecture of COVID-19. Nature. 2022;608(7921):E1-E10. doi:10.1038/s41586-022-04826-7.

Huntingtin turnover: modulation of huntingtin degradation by cAMP-dependent protein kinase A (PKA) phosphorylation of C-HEAT domain Ser2550.

Lee Y, Kim H, Barker D, et al. Huntingtin turnover: modulation of huntingtin degradation by cAMP-dependent protein kinase A (PKA) phosphorylation of C-HEAT domain Ser2550. Hum Mol Genet. 2022. doi:10.1093/hmg/ddac165.

Mouse fetal growth restriction through parental and fetal immune gene variation and intercellular communications cascade.

Kaur G, Porter CBM, Ashenberg O, et al. Mouse fetal growth restriction through parental and fetal immune gene variation and intercellular communications cascade. Nat Commun. 2022;13(1):4398. doi:10.1038/s41467-022-32171-w.

Efficient in vivo base editing via single adeno-associated viruses with size-optimized genomes encoding compact adenine base editors.

Davis JR, Wang X, Witte IP, et al. Efficient in vivo base editing via single adeno-associated viruses with size-optimized genomes encoding compact adenine base editors. Nat Biomed Eng. 2022. doi:10.1038/s41551-022-00911-4.

Single-nucleus and spatial transcriptome profiling of pancreatic cancer identifies multicellular dynamics associated with neoadjuvant treatment.

Hwang WL, Jagadeesh KA, Guo JA, et al. Single-nucleus and spatial transcriptome profiling of pancreatic cancer identifies multicellular dynamics associated with neoadjuvant treatment. Nat Genet. 2022. doi:10.1038/s41588-022-01134-8.